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8/21/2019 Case Report Tetralogy of Fallot-complete
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CASE REPORT
CYANOTIC CONGENITAL HEART DISEASE:
TETRALOGY OF FALLOT
Supervisor
dr. Muhaad A!i" Sp.A#$%
Prese&'a'ors:
Ci'ra Ar(a&'i )*)+))),)
Maria&'o )*)+))++-
DEPARTMENT OF PEDIATRICS
MEDICAL FACLTY
NI/ERSITY OF SMATERA TARA
HA0I ADAM MALI$ GENERAL HOSPITAL CENTER
MEDAN -)+1
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PREFACE
Praise the God for His gratitude and blessing so that we are finally able to
finish this case report entitled Tetralogy of Fallot well. This case report is
written in order to fulfill the duties of senior clinical assitance of clinical rotation
in Pediatrics Department. This paper is expected to increase the nowledge and
insight! especially about tetralogy of fallot.
This case report is done to fulfill the clinical rotation"s duty in pediatrics
department. The authors would also lie to than the super#isor! dr. $uhammad
%li! &p.%'()! who gi#e guidance! suggesstion! and assessment for this case report.
*ast of all! we reali+e that despite the effort we ha#e put into this case
report! there are still errors and flaws in our wor. Therefore! we encourage and
welcome suggestions! ad#ices! and criticisms that will facilitate the impro#ement
of this paper. Hopefully this scientific wor can contribute to the de#elopment of
medical science in particular.
$edan! ,,th -anuary /,0
%uthors
ii
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A2STRACT
Tetralogy of fallot is the most common cyanotic congenital heart disease found in infant.
Tetralogy of Fallot is a tetra cardiac malformation comprising ventricular septal defect,
right ventricular outflow tract obstruction, overriding of the aorta, and right ventricular
hypertrophy. This disease can be asymptomatic and symptomatic while majority will
remain asymptomatic until they outgrow their pulmonal blood supply. It is important of
early diagnosis of TOF because surgical procedures should be done precisely. This case
report presented a 6 year old boy with main complaint history of bluish skin since he was
months. !orkup diagnostic has been made and patient has been referred for surgical
intervention.
"eywords# tetralogy of fallot, bluish
iii
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TA2LE OF CONTENTS
PagesCO/ER.......................................................................................................... i
PREFACE..................................................................................................... ii
A2STRACT.................................................................................................. iii
TA2LE OF CONTENTS............................................................................. i#
LIST OF PICTRES" CHARTS" AND TA2LES..................................... #
CHAPTER + INTRODCTION............................................................ ,
,.,. 1acground........................................................................ ,
,.. 2b3ecti#es........................................................................... 0
,.0. 1enefits.............................................................................. 0
CHAPTER - LITERATRE RE/IE3................................................ 4
.,. Definition........................................................................... 4
.. 5tiology and Pathogenesis................................................. 4
.0. Pathophysiology................................................................. ,/
.4. Diagnosis............................................................................ ,
.6. $anagement....................................................................... ,7
.6.,. $anagement tetralogy of fallot.............................. ,7
.6.. $anagement of hypoxic spell................................ 4
.7. 8omplication...................................................................... 7
.9. Prognosis............................................................................ 9
CHAPTER 1 CASE REPORT............................................................... :
CHAPTER 4 DISCSSION................................................................... 69
CHAPTER , SMMARY...................................................................... 7/
REFERENCES
i#
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LIST OF FIGRES" CHARTS" AND TA2LES
Fi5ures
Figure .,. De#elopment of cardiac structures................................................ 9
Figure .. Hemodynamics of acyanotic '%) and cyanotic '1) tetralogy of
fallot............................................................................................... ,,
Figure .0. 2b3ecti#e measurement of clubbing fingers.................................. ,0
Figure .4. Palliati#e shunts for tetralogy of fallot.......................................... ,:
Figure .6. &urgical correction for tetralogy of fallot...................................... ,;
Figure .7.
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CHAPTER +
INTRODCTION
+.+. 2a785rou&d
8ongenital heart disease '8HD) accounts for nearly one=third of all ma3or
congenital anomalies. *inde! et al. systematic re#iew included ,,4 papers
identified ,74!0;7 indi#iduals '/.7:>) of total 4!/;,!:79 li#e births identified.
?ncidence of congenital heart diseases '8HDs) among infants born ali#e is about
,.>.,@eported total 8HD birth pre#alence increased substantially o#er time!
from /.7 per ,!/// li#e births ';6> confidence inter#al A8?BC /.4 to /.:) in ,;0/ to
,;04 to ;., per ,!/// li#e births ';6> 8?C ;./ to ;.) after ,;;6. %sia reported the
highest 8HD birth pre#alence! with ;.0 per ,!/// li#e births ';6> 8?C :.; to ;.9)!
with relati#ely more pulmonary outflow obstructions and fewer left #entricular
outflow tract obstructions. ?n ?ndonesia! same of that with %sia! incidence of
8HD was ;=,/ in ,/// li#e births.0
8ongenital heart diase can be simply di#ided into acyanotic and cyanotic
groups. ?n the cyanotic 8HD group! there were predominant defects! tetralogy
of Fallot 'T2F) and transposition of the great arteries 'TG%)! while T2F was the
most common and twice as pre#alent as TG% '4.9,/!/// births #s .0,/!///
births! respecti#ely). The total pre#alence of all other cyanotic defects combined
was 6.6,/ /// births.4T2F is also the most common cyanotic 8HD that is liely
to result in sur#i#al to infancy and adulthood.65pidemiologic study showed that
T2F occurs in ,/ per thousand li#e births worldwide.7There hasn"t been done an
epidemiological studies for pre#alence of T2F in ?ndonesia.
Tetralogy of Fallot 'T2F) is a cardiac malformation comprising #entricular
septal defect '
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bleu and the term tetralogy of Fallot a tetrad of #entricular septal defect!
o#erriding of the aorta! right #entricular outflow obstruction! and right #entricular
hyperthropy.,/
1oth en#ironmental and genetic factors were thought to be strongly
associated with T2F. $any of gene mutations has been identified to be
responsible for de#eloping of T2F. Thus! forty percent of the T2F patients are
associated with other congenital cardiac abnormalities.,,-enins! et al. postulated
that en#ironmental factors played more important to cause T2F because smoe
influenced gene mutations and destruction of tissues.,
Tetralogy of fallot can be asymptomatic and symptomatic. $a3ority will
remain asymptomatic until they outgrow their pulmonal blood supply.,0 ?nfant
with tetralogy of fallot will come with presentation of cyanosis! shortess of breath!
easy fatiguability! clubbing finger! nee chest position to relie#e spells. ?n many
conditions! spell will occur and need treatment as soon as possible. ,4
This clinical presentation will be improtant to consider the option for
management although many contro#ersies came out wheter to do early correction
or to precede shunting procedure. ithout surgical treatment! the estimated , year
sur#i#al rate is 77> and the estimated 0/ year sur#i#al rate is 7>. ith surgical
treatment o#er :6> of children sur#i#e to adulthood. The patients who sur#i#e
into adulthood without surgical treatment reuire uniue management based on
their indi#idual anatomy and physiology. $anagement should be directional and
precise because prolonged hypoxia will bring many complications entire of
human body.;!,,
1ased on the rising of morbidity and mortality of tetralogy of fallot! it
became the biggest challenge to impro#e the care globally. %ccess to health care
is still limited in many parts of the world! as well as the diagnostic facilities.
hile in other hand! there needs to be further in#estigation to tailor the
management of this global health problem.,6Indoubtedly! the authors feels that it
is necessary to re#iew more about tetralogy of fallot. Therefore! the authors
presented a case report of uncomplicated tetralogy of fallot in a 7=year=old boy.
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The authors expected that this case report will gi#e more understanding about
tetralogy of fallot! its diagnostic and management approach.
+.-. O69e7'ives
The ob3ecti#es of this case report is to raise the nowledge and preferences of
tetralogy of fallot and to complete the clinical rotation tas in pediatrics
department.
+.1. 2e&ei's
This case report is expected to pro#ide benefits to authors and readers about better
understanding in tetralogy of fallot cases.
0
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CHAPTER -
LITERATRE RE/IE3
-.+. Dei&i'io&
Tetralogy of Fallot 'T2F) is a cardiac malformation comprising #entricular septal
defect ')! rarely at the pulmonary #al#e le#el ',/>)! combination of both
'0/>). %nother finding! atretic pulmonary #al#e! is the most se#ere form of the
anomaly ',6>). ?n some children! pulmonary atresia can de#elop o#er time
'tetralogy of Fallot with acuired pulmonary atresia).9!:!;!,6!,7
-.-. E'io!o5( a&d Pa'ho5e&esis
1oth en#ironmental and genetic factors were thought to be strongly associated
with T2F! although en#ironmental factors recei#ed more attention. $aternal
factors such as rubella and other #iral infection! diabetes mellitus and exposures to
teratogenic agents such as thalidomide during pregnancy ha#e been shown to be
associated with 8HD including T2F in #arious epidemiological studies. The
o#erriding theory is that these en#ironmental exposures occurred during a critical
period in cardiac de#elopment! which then resulted in formation of T2F. The
4
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clear relationship between certain exposures and T2F and the limitations with
pro#ing genetic studies in pre#ious decades led some in#estigators to postulate
that en#ironmental factors were probably more important than genetic factors in
T2F causation.:!,
?t was reported that T2F were associated with chromosomal abnormalities
'such as trisomies ,0!,:! and ,) and syndromes '#elocardiofacial syndrome)! and
associations 'such as 8H%@G5 and of cases with trisomy , ha#e
congenital heart defects! pre#alent atrio#entricular septal defects 'isolated or
associated with Tetralogy of Fallot).,9 8hromosomal anomalies are nown to
accounts for twel#e percent of the T2F cases.,:!,;
&maller changes in#ol#ing deletions or duplications of segments of
chromosomes! copy number #ariants '8 of patients with classic T2F! and 4/> of those with T2F with
pulmonary atresia! will ha#e microdeletions of chromosome ,,.. The
,,. deletion e#en occurs as a de novo mutation in o#er ;/> of newly
diagnosed cases. These deletions and duplications occur by a #ariety of
mechanisms and can result in haploinsufficiency or o#er expression of a number
of contiguous genes! often with a negati#e effect on phenotype and it is inherited
by autosomal dominant fashion.0!4 ,,D& is a de#elopmental disorder that
affects third and fourth pharyngeal pouch structures! namely the heart and great
#essels! thymus! parathyroid glands and craniofacial structures. %blation of the
cardiac neural crest cells has been shown to result in cardiac phenotypes similar to
those seen in ,,D& and it has been postulated that this syndrome may be
lined to improper neural crest cell migration into the pharyngeal arch structures.
%nother #ariants! ,,., deletionsduplications! was found to be another
significant #ariants which could cause T2F. ?t was also reported that methylene
tetrahydrofolate reductase '$THF@) gene polymorphism can be considered a
susceptibility gene for tetralogy of Fallot.,:!,; ?n 6K6/> of cases! maternal
phenyletonuria also results in Tetralogy of Fallot.
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estimated to cause about ,=6> of T2F cases.,; and can be associated with
syndromic 'e.g. %lagille syndrome) as well as nonsyndromic presentations.
The heart starts as a tube. Two sections of the tube! the truncus arteriosus
and the bulbus cordis! grow towards each other. The truncus arteriosus twists
,:/L as it grows down towards the bulbus cordis. This twisting separates the aorta
and the pulmonary artery. %ntero=cephaled of the twisting causes tetralogy of
Fallot 'T2F) such as right #entricular outflow tract obstruction! non restricti#e
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Figure .,. De#elopment of cardiac structures;
?ncreasing e#idence suggests that single gene mutations are present in a
broad spectrum of genes in#ol#ed in cardiac structure and function. Pleiotropic
cardiac malformations can result from discrete mutations in specific nuclear
transcription factors! proteins recogni+ed as playing ey regulatory roles during
cardio#ascular de#elopment and morphogenesis. Factors such as G%T%4!
x.6! dH%D! TF%P! and Tbx6 are among the earliest transcription factors
expressed in the de#eloping heart and are crucial in the acti#ation of cardiac=
specific genes. $utations in each of these genes result in se#ere cardiac
abnormalities including tetralogy of fallot.;
Table .,. Gene mutations in tetralogy of fallot0/
1one morphogenetic proteins! nt! and FGF are the main growth factors
modulating the expression of cardiogenic transcription factors. The proteins
@egarding= and =4 are soluble factors belonging to the superfamily of TGF=b
growth factors. They induce the expression of 8sxx=.6 in cardiac mesoderm
through signaling pathways that in#ol#e &mad and TGF=N inase , mediators. ?n
9
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fact! the promoter of 8sxx=.6 presents binding sites for &mad is an important
role for its function to regulate post=translational modifications and it interacts
with other transcriptional factors 'G%T%=4! &@F! Tbx6! Tbx! Tbx/ and
H%D).0,
There are three nt signaling pathwaysC canonical! noncanonical and
ntcalcium. 2f these pathways! both the canonical and noncanonical pathways
ha#e clear roles in early heart de#elopment. 8anonical nt signaling inhibits
cardiac induction and maintains the secondary heart field 'pharyngeal mesoderm)
in an undifferentiated state. ?ts inhibition is essential for myocardial
differentiation. oncanonical nt signaling! on the other hand! promotes cardiac
differentiation and is specifically needed for outflow tract de#elopment.
%ntagoni+ing the canonical nt signal by D=, or 8rescent is necessary for the
expression of cardiogenic transcription factors 8sxx=.6 and Tbx6. %fter the
heart tube has formed! canonical nt signaling is maintained in the secondary
heart field. b=catenin is needed in ?sl,=expressing secondary heart field
progenitors. *oss of nt signaling reduces the number of ?sl,=positi#e cells!
leading to outflow tract and right #entricular defects! whereas excess nt
signaling expands the ?sl,=positi#e population. These suggest suggest that
canonical nt signaling is responsible for promoting proliferation and
maintaining cells in a progenitor state.0
1eta=catenin induces both @egarding=4 and noncanonical nt,, expression
in the secondary heart field! which also suggests that the early canonical nt
signaling sets the stage for differentiation. hile the canonical nts are important
for their ability to inhibit the initial cardiac induction! the noncanonical nts
promote cardiac differentiation. *ie the canonical pathway! noncanonical nts
also bind transmembrane receptorsO signaling proceeds through Dishe#eled! which
modifies actin #ia the @ho@28( and @ac-( pathways. oncanonical nt6%!
in combination with canonical nt inhibitor D=,! induces cardiac
differentiation in stromal #ascular cells. ?n addition! nt,, also induces cardiac
differentiation in Menopus! and nt,,= null mice ha#e both arch artery patterning
and outflow tract defects. Howe#er! ?sl, expression appears normal in these mice!
:
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suggesting that the initial specification of the secondary heart field occurs
correctly. This expression pattern supports the idea that noncanonical nt
signaling is important not for the early steps of induction or specification! but for
later differentiation.00
% recent study by a -apanese group has in#estigated the role of
phosphatidylinositol 0=inase 'P?0=inase) at a #ery early stage of cardiomyocyte
differentiation! possibly by modulating the expression of the cardiac transcription
factors 8sxx=.6 and G%T%=4. Through these downstream proteins! P?0=
inase plays an essential role in a wide #ariety of cellular processes and in the
differentiation of se#eral cell lineages! including cardiomyocytes. ?n this study! it
was demonstrated that cardiomyocyte differentiation was bloced by P?0=inase
inhibitors from days / to 4 after induction of differentiation! suppressing the
expression of 8sxx=.6 and G%T%=4. These findings may be explained
because P?0=inase could be in#ol#ed in the transcriptional loop between
8sxx=.6 and G%T%=4.04
Four percents of patients with ToF ha#e an (M.6 mutation. 06(M.6 is
a cardiac homeobox protein that is essential for normal cardiac de#elopment
especially #entricular cardiomyocytes maturation during the final stages of heart
de#elopment and mutations in the 8&M gene 'which encodes (M.6) cause
se#eral congenital heart malformations. % dominant locus associated with
cardio#ascular malformations and conduction abnormalities has been mapped to
chromosome 606. These mutations ha#e also been found to cause #arious other
cardiac structural abnormalities.07
-%G, encodes a highly conser#ed cell surface protein! which is a ligand
in#ol#ed in the otch pathway and is thus a component of an intracellular
signaling pathway shown to be crucial for deciding a cardiogenic progenitor cells
fate. $utations in -%G, ha#e been found in indred studies in association with
%lagille syndrome! a complex autosomal=dominant disorder presenting with 8HD
including T2F. -%G, encodes a ligand that binds the otch receptor! an
e#olutionarily conser#ed signaling pathway in#ol#ed in cell fate specification.
$utations in the signaling regulator otch, ha#e recently been implicated in
;
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aortic #al#e disease. $utations in PTP,, encoding a protein
tyrosinephosphatase '&HP=) ha#e been proposed to play a role in the
pathogenesis of oonan syndrome characteri+ed by conduction defects!
pulmonary stenosis! and hypertrophic cardiomyopathy!; and ha#e been also
recently implicated in the pathogenesis of *52P%@D syndrome! which liely
represents an allelic disorder.0/
&ome researchers identified hetero+ygosity for a mutation in the +inc=finger
protein! multi=type 'QFP$) gene andsuggested that mutations in this gene may
contribute to some sporadic cases of ToF. Pi++uti et al. '//0) disco#ered that the
QFP$ gene maps to :.09QFP$! which is a +inc finger co=factor! interacts
with the =terminal domain of the transcription factor G%T% binding protein 4
'G%T%=4) and modulates its transcriptional acti#ity both in #itro and in #i#o
during heart de#elopment. ?n mice! the QFP$ protein is also nown as F2G=. 0:
G%T%=4 binds specifically to the %T G%T% %G motif of D% and isin#ol#ed
in heart de#elopment in many organisms.0;
G%T%6 is an upstream regulator of se#eral genes expressed during
embryogenesis and cardiac morphogenesis! including the genes that encode atrial
natriuretic factor '%F)! brain natriuretic peptide! R=myosin hea#y chain! N
myosin hea#y chain! and cardiac troponin 8 and ?.4/The human '(T( gene
maps to chromosome /,0.00 by fluorescence in situ hybridi+ation! encoding a
protein of 0;9 amino acids.0:The G%T%6 mutations of p.@,:9G and p.H/9@
identified in this study are both located in QF,! thus may be expected to ha#e
impact on the transcriptional acti#ation of G%T%6 by interfering with the
recognition and binding of G%T%6 with target gene promoter.4,
-.1. Pa'hoph(sio!o5(
T2F reuires only two abnormalitiesKa
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the presence of the P& minimi+es the magnitude of the left=to=right shunt! the
heart si+e and the pulmonary #ascularity increase only slightly to moderately.
These increases are indistinguishable from those of a small to moderate
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#entricular hypertrophy. ?nsulin lie growth factor '?GF)! acidic and basic
fibroblast growth factor 'FGF=, and FGF=)! plateletderi#ed growth factor
'PDGF) and epidermal growth factor '5GF) are all growth factors in#ol#ed in the
myosin R to N=isoform shift to increases the efficiency of force de#elopment by
producing the same absolute muscle tension at a slower rate because the R=form
has a three to se#en fold greater %TPase acti#ity than N=myosin. Depending on the
importance and duration of o#erload and concomitant pathology! the @ of cases! tall @
wa#es! and &T=T changes. ?f the systolic pressure in the right #entricle is between
4/ and 7/ mm Hg! signs of moderate right #entricular hypertrophy will be present
in about 06=46 > of patients. % tall @ wa#e in leads
useful in defining issues that could not be addressed by con#entional
echocardiography. This could be particularly important when defining #ascular
anatomy alterations. The catheteri+ation is not routinely reuired. Howe#er! it
could be performed when the necessary data for surgical correction decision
maing cannot be obtained by other exams. $cGoon ratio and naata index are
,6
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used to uantitae the degree of pulmonary stenosis. $cGoon ratio is the ratio of
the sum of the diameter of the immediately prebranching portion of the right
pulmonary artery plus left one di#ided by the diameter of the descending aorta
3ust abo#e the diaphragm. ormal #alues are =.6 and good Fontan candidates
should ha#e ratio of E,.:. aata index is the cross sectional area of right
pulmonary artery and left one 'in mm) di#ided by the 1&%. The a#erage
diameters of both right and left pulmonary artery are measured at the points
immediately proximal to the origin of the first lobar branches at maximal and
minimal during one cardiac cycle in the anteroposterior #iew of the pulmonary
arteriogram. ormal #alues is 00/ W 0/ mm1&% and good @astelli candidate
should ha#e an index E//.;!46
-.,. Ma&a5ee&'
-.,.+.Ma&a5ee&' o 'e'ra!o5( o a!!o'
There are some supporti#e and medical management of tetralogy of fallot listed
below. Howe#er! the correcti#e treatment remains inter#ention surgery.9!:!;!,/!46!47
,. ?n newborn! hypercyanotic condition can be treated by administering
prostalglandin 5, /./,=/./ Xggmin infusion. Prostalglandin wors as a
potent and specific relaxant of ductal smooth muscle to eep the ductus
arteriosus open which will pro#ide additional pulmonary blood flow and
increase the childs oxygen le#el. This can be continued through the
preoperati#e period and during cardiac catheteri+ation.,/
. ?n infant! tet spell can be pre#ented by commencement of oral propanolol /.6=
,.6 mgg e#ery 7 hours while waiting for an optimal time for correcti#e
surgery. blocade of beta receptor will reduced cardiac contractility. Graham!
et al. study in 0 patients who use preoperati#e propranolol therapy and 76 as
control! showed that there were no differences in postoperati#e inotrope
scores in the first , hours. There was a trend toward increased inotrope
scores at 4 and 4: hours 'pY/./6). 1ut! no differences found between groups
in length of mechanical #entilation! ?8I stay! or total hospital postoperati#e
stay. ?n conclusion! propranolol therapy can be used in patients with tetralogy
,7
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of Fallot until the time of surgery! without important effects on their
postoperati#e courses. %ny blunting of inotropic or chronotropic acti#ity in
propranolol=treated patients appears to be easily o#ercome with increased
inotropic medications or temporary pacing! without increased morbidity or
mortality. 5#en in $ahmouda! et al. study! using preoperati#e propanolol
therapy will pre#ent postoperati#e -5T.6/&tephenson! et al. study showed that
propranolol will pre#ent cardiac arrhytmias post surgery 'pJ/!/6). ?n the
control group! cardiac arrhythmias for which treatment was necessary
de#eloped in 0, of ,07 patients '0>)! atrial fibrillation or flutter in 4
patients 'l:>)! and #entricular arrhythmias in 9 '6>). ?n the group recei#ing
propranolol! cardiac arrhythmias reuiring treatment de#eloped in ; of :9
patients ',/>)! atrial fibrillation or flutter in 9 ':>)! and #entricular
arrhythmias in '>). the difference in freuency.6,
0. Prophylaxis against bacterial endocarditis.
4. Treatment of iron deficiency anemia! heart failure! heart bloc! and other
comorbidities.
6. *ifestyle! pre#ent cold! pre#ent dehydration! home remedies! exercising! and
play.
1efore inter#ention of pallati#e shunt in T2F treatment! newborn T2F
babies will absolutely died. 1ut after surgical inter#ention in past decades!
numbers of sur#i#al increased. The first palliati#e shunt in#ented by 1laloc!
Taussig! and
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gore tex graft between the right #entricle and the pulmonary arteries. This right
#entricle to pulmonary arteries conduit has been proposed as a better alternati#e to
a modified 1T& and preliminary data from one or two centres has suggested a
better outcome. ?t is hypothesi+ed that the conduit will pro#ide a more stable post
operati#e balance between pulmonary and systemic circulations with a lower
pulmonaryCsystemic blood flow ratio 'VpVs).66 ?n ,;6;! Glenn introduced a
Glenn shunt! anastomosed between superior #ena ca#a and pulmonary artery.
Pulmonary artery pressures must be low for this to be successful. 67?n ,;47! Potts
introduced a Potts shunt! anastomosed between the descending aorta and the left
pulmonary artery. ?n ,;7! aterson introduced a aterson shunt! anastomosed
between the ascending aorta and the right pulmonary artery. Potts and aterson
shunt is no longer performed either because these procedures included too large a
shunt leading to 8HF andor pulmonary hypertension! and narrowing and ining
of the pulmonary artery at the site of the anastomosis.64 The cooley shunt!
intrapericardial modified waterston shunt also is no longer commonly used.67
Figure .4. Palliati#e shunts for tetralogy of fallot6
,:
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The first total correction of a tetralogy of Fallot was achie#ed in %pril ,;64
by *illehei! using the cross circulation techniue in a patient aged ten months!
and subseuently in another ten patients of whom six were under two years of
age. The first patient sur#i#ed and is still li#ing today. &hortly thereafter! *illehei!
et al. introduced patch enlargement of the right #entricularinfundibulum. The first
successful correction of a tetralogy of Fallot using extracorporeal circulation was
carried out by (irlin in ,;66 using pump or oxygenation for repair. ?n ,;6;!
(irlin et al. again reported the use oftransanular patching. Howe#er! in spite of
the initial successes in the correction of tetralogy of Fallot in infancy by
pioneering cardiac surgeons such as &humway! further attempts had
disappointingly high mortality! and this led to the uni#ersal acceptance of
correction in two stages! with an initial palliati#e procedure and total correction at
a greater age.64!69
Figure .6. &urgical correction for tetralogy of fallot69
8ontro#ersies in T2F management nowadays is that either chosing one
stage early surgical repair or two stage procedures! first shunting then late
surgical repair! usually ,!6 years after! which will introduced a better outcome forpatients. For at least decades! initial palliationfollowed by reparati#e operation
later in childhood was themost pre#alent strategy. 1y the early ,;:/s! primary
repair in early infancy had been championed by 8astaneda! 1arrat=1oyes! and
others.69 The concept of early primaryrepair was extended to symptomatic
neonates! and low operati#emortality was achie#ed.6:
$any studies had been carried out and #ariation of early and late outcomes
were showed by these studies. Palliati#e shunts ha#e become less common
,;
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treatments for T2F since the ad#ent of initial correcti#e procedures during
infancy to reduce complication of two times surgical inter#ention. 67 Howe#er!
patients undergoing staged treatment of T2F! using a palliati#e shunt and
subseuent total correction! accrue the ris of two operati#e procedures and the
potential complications of right=to=left intracardiac shunting! compromised
#entricular function! and fibrosis with ongoing hypoxemia and myocardial
ischemia.6;
During ,;6/=,;;/! which classical trans#entricular surgical techniue was
used! early surgical correction leads to many complications such as significant
pulmonary #al#e insufficiency and is often accompanied by increased mortality. 6:
$ortality approached 6/>! but current ris has fallen to consistently /=6>.6
Pulmonary insufficiency and the resultant right #entricular#olume o#erload ha#e
important conseuences in terms of #entriculardimensions and function! exercise
capacity! arrhythmias! heartfailure! and sudden cardiac death leading to late
reoperationto address pulmonary insufficiency and right #entricular
#olumeo#erload is becoming more pre#alent.6:%lthough (inner et al..! identified
the use of a transannular patch as a ris factor for late mortality! the results of the
study of -ames et al.! and a large study by (irlin et al.! suggested that the
compensatory responses to right #entricular o#erload were adeuate for a /=year
period! at least with respect to mortality.7/1ut after Hudspeth and 5dmunds and
later promulgated by (awashima! Pacifico! and $ee introduced
transatrialtranspulmonary correction! it was showed lower mortality and
morbidity compared to two stages repair. Giannopoulous et al. study showed that
0=year=follow up in patients corrected with transatrial or transpulmonal correction
results in no mortality and ;0!> had normal right #entricular function.7,
?n many studies! mortality rate is eual between single and two staged
procedures. Hashem+adeh! et al. showed mortality rate of 6./:> for primary
complete repair of T2F without an initial palliati#e procedure compares #ery
fa#orably with the mortality of 3ust an initial shunt operation for this congenital
defect.7/
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Figure .7.
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systemic hypothermia '6L8 to :L8) and blood or crystalloid prime. 70The
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&tudy of 9 children by %rsdell! et al. showed that age 0 to ,, months is the
greatest physiological tolerance to do repair surgery. ?nfants aged 0 to ,, months
had the most rapid reco#ery from operati#e therapy! as measured by lesser time to
normali+ation of serum lactate! time to extubation! and length of hospital stay!
compared to infants aged J 0 months 'pY/!/0). o deaths occurred in infants aged
0 to ,, months. Despite the fact that each of these deaths occurred in a child who
did not ha#e a pre#ious shunt! the multi#ariate model showed pre#ious palliation
to be a ris for longer hospitali+ation by #olume=loading pro#ided by the systemic
to pulmonary artery shunt protects against the unfa#orable right #entricular
diastolic stiffness.77%nother different results came from Gerling et al. study. ?n
,4 patients! they showed that early repair of T2F within the first year of life can
be recommended! because mortality is lower than in patients treated at a higher
age. o significant difference in the reinter#ention rate between patients treated
within the ,st year of life or later.79
?n Poorsi! et al. study! for patients J,/ years and ,/K,; years of age at
the time of surgery who were ali#e , year after repair of T2F! excess mortality
persisted at least 0/ years after surgery and did not #ary a great deal with duration
of followup. 1ased on limited data! excess mortality for the age group /K0;
years was higher compared to that of younger ages during the first ,/ years after
surgery and decreased thereafter.7:
Graphic .,. $ortality rate of surgical for tetralogy of fallot 7:
The potential benefits of neonatal correction of the tetralogy or of correction
in e#ery case in early infancy include the following a#oids the riss and
0
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complications of a palliati#e aortopulmonary shunt! mingling of #enous blood in
the systemic circulation 'cerebral embolism)! only small patch need for closure
before maturity! @
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factors such as crying! defecation! feeding! waing from naps 'low systemic
resistance)! fe#er! dehydration! tachypneatachycardia due to any cause!
medications may stimulate mechanoreceptor in right #entricle to pro#ide
sufficient oxygen. 8athecholamines will be released causing increased
contractility while #ascular will compensate by #asodilating. @espiratory center
will be also stimulated. %ll of this compensation e#en worsening and results in
self perpeuating cycle.;!7;!7/
Figure .9. Perpeuating cycle in pathophysiology of hypoxic spells9,
$anagement of hypoxic spellsC;!9
,. (nee=to=chestsuatting. *aaso! et al. found that there was a statistically
significant reduction in the posterior tibial artery flow #elocity! maximally
0,.7>! when the sub3ect was mo#ed from the prone to the nee=chest
position. ?n ,/ of the , #olunteers! no flow in the posterior tibial #ein was
detected in doppler I&G in the nee=chest position. There was also increase
in diastolic arterial pressure 'pJ/.//,).90%lthough! @igamonti! et al. didn"t
found any intraabdominal pressure difference between prone and nee chest
postion. @egardless of it! nee chest postion was pro#en to increased
afterload! the systemic #ascular resistance. &o that! now left #entricle
offered more resistance that right #entricle! blood will rather go to
pulmonary circulation than leas through the
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arterial oxygen saturation! probably by temporarily trapping desaturated
blood in the lower extremities.
. 2xygen ,//> can be administered but usually has minimal effect. 2xygen
gi#en ,//> ensuring the little blood entering pulmonal will be oxygenated
masimally.
0. $orphine /!,=/! mgg i.m. or s.c. that will reduces #entilatory dri#es!
reduces infudibular spasm. $orphine will induce release of histamine and
nitrogen oxide causing #asodilation of systemic #ascular.94
4. 8rystaloid or colloid fluid bolus ,/=/ mlg by rapid i.#. push maximises
preload and should be gi#en prior to the following drugs which may include
hypotension.
6. %cidocis correction by sodium bicarbonate , m5g i.#. repeat in ,/=,6
minutes may reduce the respiratory centre stimulating effect of acidosis.
7. Propranolol starting at =6 Xgg and titrating up to ,/=/ Xgg ?< slow
push. Iltimately! if the preceding steps do not relie#e the spell or if the
infant is rapidly deteriorating! intubation with muscle paralysis and general
anesthesia may be necessary.
9. &econdary drugsC phenylephrine /!/ mgg i#! etamin ,=0 mgg i# o#er ,
minute increases the systemic #ascular resistance and sedates the infant.
-.
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- Failure to thri#e
-.=. Pro5&osis
Gi#en no correcti#e surgery! up to 0/=06> of children will die within the first
year of life! 6/> by the third year! and only few will sur#i#e into adulthood. 2ne!
three! and ten year sur#i#al probabilities are only 77>! 4;>! and 4>. early
9/> of patients with TF reuire an operation during their first year of life because
of hypoxic spells or persistent hypoxemia defined as resting arterial oxygen
saturation less than 9/>.6!96
8umulati#e sur#i#alat 6 years postoperati#ely was ;4.4>. There was no
significantrelationship between sur#i#al and year of operation! age atoperation!
sex! or presence of a prior shunt. $idterm reoperations are reported in =,;> of
the patients! mostly because of residual pulmonary stenosis and to a lesser extent
due to residual of the TF patients. The actuarial freedom from
reoperation was :6=:;> at ,6 years.6!4!96
CHAPTER 1
9
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CASE REPORT
IDENTITY
ame C $uhammad Quhri
%ge C 7 years
&ex C $ale
$@ C 64.,.7,
%ddress C Dusun ? Desa &artono Tebing Tinggi
Date of %dmission C December! 6th/,
$Q! a 7 years old boy! weight 0., g! height ;: cm! presented to Pediatrics
Department at Ha3i %dam $ali General Hospital 8enter on December 6th/,
at ,7.// with the main complaint history of bluish sin. 1luish sin was first
experienced by the patient when he was 6 months. 1luish sin was found initially
on the finger nail and spreaded slowly to the lips! head! and entire body.
&hortness of breath was experienced by the patient all the time! especially when
the patient was crying. &hortness of breath was not associated with the weather
but strong associated with exertion. The child may play for only a short time
before sitting or lying down. 2nce able to wal! the child often assumes a
suatting position to catch his breath and then resumes physical acti#ity within a
few minutes.
The patient also encounter an easy of fatiguability. The child usually tires easily
and begins panting with any form of exertion. The patient found it comfortable to
curl at sleep and rest. History of freuently discontinued breast feeding was found.
The patient often experienced rapid worsening shortness of breath along with
di++iness and muscle rigidity while sometimes ended with syncope. Freuency =
0 times a day and each attac lasted 6=/ minutes. &ince 6 years old! the attac
was decreasing in freuency ',= times in a wee). Patient used suatting position
to relie#e his breath. This complaint mostly appeared when the patient was crying!
feeding! dan waing up in the morning.
:
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The parents also felt that the patient was shorter than his peers. Irination and
defecation were within normal limit. 8ough and fe#er was not found. History of
family experienced the same complaint was not found.
His'or( o Previous i!!&ess
The patient was pre#iously admitted to a general hospital at Tebing Tinggi with
the same complaint fi#e years ago. The patient was diagnosed with the heart
disease by the general physician. Diagnosis was made by history and physical
examination. Physicians there referred the patient to Ha3i %dam $ali Hospital
but the patient refused to came by.
His'or( o Previous edi7a'io&
Innown herbs.
His'or( o Pre5&a&7(
The patient"s mother pregnant at age :. Patient was the third child in his family.
%ntenatal care was ne#er done by his mother. His mother felt #ery easily tired and
wea when the pregnancy but ne#er consult physicians for the complaint. o
history of fe#er! infection! drugs! herbs and alcohol consumption was found. The
mother was exposed to cigarette smoe when the pregnancy since his father was a
smoer. History of stillbirth was not found.
His'or( o 2ir'h
The patient was born at the family"s house and assisted by a nurse. Gestational
age was 09 wees. Patient was deli#ered on spontaneous labor and cried
immediately. o icteric and cyanosis. 1irth weight was 0!,// grams! birth length
was not measured! and history of cyanosis was not found during the birth.
Feedi&5 His'or(
From birth to 7 months C 1reast mil! formula mil! and rice porridge
From 7 months to ; months C 1reast mil! formula mil! rice porridge! and soft
;
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rice
From ; months to years C 1reast mil! formula mil! rice porridge! and soft
rice
From years until now C Formula mil and Family food
His'or( o Gro>'h a&d Deve!ope&'
&itting C , months
8rawling C ,: months
&tanding C 4 months
Taling C 4 months
aling C 7/ months
@eading C hasn"t been sent to school yet
De#elopmental screening test on this patientC
,. The patient can recogni+e colors well
. The patient can"t hopping on one foot se#eral times
0. The patient can"t write! draw! and read well
4. The patient hardly able to maintain balance when standing on one foot
6. The patient also hardly to answer some uestions well
?t concluced that the patient has de#elopment delay.
His'or( o Iu&i?a'io&
18G! DPT ',x)! measles! polio ',x)
Ph(si7a! E;ai&a'io&
Generali+ed status
1ody weight C ,4 g
1ody length C ;: cm
1ody weight in 6/th percentile according to age C , g
1ody length in 6/th percentile according to age C ,,7 cm
1ody weight in 6/th percentile according to body length C ,6 g
0/
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1age C.,
,4 x ,//> Y 79>
1*age C,,7
;:x ,//> Y :4>
11* C,6
,4 x ,//> Y ;0>
Presence &tatus
&ensoriumC alert! 1PY ,//7/ mmHg! H@Y ,,/ bpm! @@Y 0/ xmin! temperatureC
09o8. %nemic '=)! dyspnea 'U)! cyanotic 'U)! edema '=)! icteric '=). 1ody weight
'1)C ,4 g. 1ody length '1*)C ;: cm. 8D8C 1%ge Y 79>! 1*%ge Y :4>!
11* Y ;0>.
*ocali+ed &tatus
Head C 5yeC light reflex 'UU)! isochoric pupil 0 mm! inferior
con3ucti#a palpebra hyperemiahyperemia! icteric sclera '==).
oseC nasal flaring 'U)
5arsC within normal limits
$outhC lips cyanosis 'U)! cyanotic tongue 'U)! oral candidiasis
'=)! atrophy papilla '=)
ec C *ymph node enlargement '=)
Thorax C &ymmetric fusiform! retraction '=)O tactile fremitus leftYright!
normal impressionO percussion resonant in both lungsO
respiratory sound #esicular! no additional soundO ictus cordis
un#isibleO single & heart sound! murmur 'U)! systolic e3ection
murmur grade ???
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8omplete 1lood 8ount @esult Init @eferral
Hb . gr> ,,.0 K ,4.,
18 ,7.0; x ,/0mm[ 4.6 K ,0.6
@18 ;.7, x ,/7mm[ 4.4/ K 4.4:
Hematocrite 9, > 09 K 4,
P*T ,/6 x ,/[mm[ ,6/ K 46/
$8< 90.; f* :, K ;6
$8H 0., Pg 6 K ;
$8H8 0,.0 g> ; K 0,
@D 6.4 > ,,.7 K ,4.:
eutrophil :0., > 09 K :/
*ymphocyte ,.: > / K 4/$onocyte 0.: > K :
5osinophil /., > , K 7
1asophil /. > / K ,
1lood Gas %nalysis @esult Init @eferral
pH 9.,:; 9.06=9.46
p82 . mmHg 0:=4
p2 9;./ mmHg :6=,//
1icarbonat :.0 mmol* =7
Total 82 ;./ mmol* ,;=6
1ase5xcess =,9.; mmol* '=) = 'U)
2 &aturation ;/.; > ;6 K ,//
8onclusionCse#ere acidocis metabolic with partial compensation! normoxemia
5lectrolyte @esult Init @eferral
&odium ,4 m5* ,06=,66
(alium 4., m5* 0.6=6.6
8hloride ,,0 m5* ;7=,/7
Ches' @Ra(
0
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%symmetrical photo! heart enlarged with upward apex! aorta arch elongated!
decreased pulmonary #ascularity was found! both hillus was blurred! hillus
position was in the center! diaphragm and costophrenicus sinus angle was sharp.
1ones was intact and normal.
8onclusionC 8ongenital heart disease with increased #ascularity
00
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E!e7'ro7ardio5raph(
I&'erpre'a'io&:
&inus rhythm! V@& rate ,06 bpm! V@& axisC left axis de#iation! P pulmonale'U)!
P@ inter#al /!,7 s! V@& pathologist on lead ? and a
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8yanotic 8ongenital Heart Disease ec. dd ,. Tetralogy of fallot U failure to thri#e
. Transposition of great artery
0. Pulmonary atresia
Teporar( Dia5&osis:
8yanotic congenital heart disease ec. tetralogy of fallot U failure to thri#e
Ma&a5ee&':
= 1ed rest! nee chest position
= @egular meals ,6// cal with : gram protein
= Irine catheter
= 2,= *i nasal cannule
= ? a8l /!46> ,// gtti micro
= *actulac syr x 8th ?? 'if necessary)
= or upC balance e#ery 7 hours! urine disptic
= PlanC 5chocardiography! consultation to pediatric cardiology module
Fo!!o> up
Follow up 7thDecember /, 'Day )
& C 1lusih sin 'U)! shortness of breath 'U)
2 C sensYcompos mentis 1PY,//7/ mmHg! H@Y; xi! @@Y: xi! TY07!:L8
Head C 5yes C light reflex 'UU)! isochoric pupil 0 mm!
inferior con3ucti#a palpebra
hyperemiahyperemia! icteric sclera '==)
ose C nasal flaring 'U)! eutrophy concha
5ars C within normal limits$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)
ec C lymph node enlargement! 3ugular #enous pressure @U
cmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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and renal are not palpable
5xtremities C pulse ; bpm! regular! adeuate pressure#olume! warm
axilla! capillary refill time J0! clubbing fingers 'U) digitimanus and pedis! cyanosis 'U).
% C 8yanotic congenital heart disease ec. dd ,. T2F U failure to thri#e
. TG%
0. Pulmonary atresia
P C =
=
=
=
=
1ed rest! nee chest position
@egular meals ,6// cal with : gram protein
2 *i nasal cannule
? a8l /!46> ,// gtti micro
*actulac syr x 8th ? 'if necessary)
1lood laboratory analysis
Test @esult Init @eferral
8omplete blood count
Hb ,.4 gr> ,,.0 K ,4.,
18 :.;7 x ,/0mm[ 4.6 K ,0.6
@18 7.;7 x ,/7mm[ 4.4/ K 4.4:
Hematocrite 76.6 > 09 K 4,
P*T ,,4 x ,/[mm[ ,6/ K 46/
$8< 90., f* :, K ;6
$8H 0.; pg 6 K ;
$8H8 0.9 g> ; K 0,
@D 6 > ,,.7 K ,4.:eutrophil 64.: > 09 K :/
*ymphocyte 04.9 > / K 4/
$onocyte 9.; > K :
5osinophil ,.; > , K 7
1asophil /.9 > / K ,
Fluid balance
'/7.//)
?nputY ?
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leu '=)! nit '=)! uro /!! pro W! pH 6! blo '=)! &G ,!/! et '=)! bil '=)! glu '=)
Follow up 9thDecember /, 'Day 0)
& C 1lusih sin 'U)! shortness of breath 'U)2 C sensYcompos mentis 1PY,//9/ mmHg! H@Y,/: xi! @@Y: xi!
TY07!6L8
Head C 5yes C light reflex 'UU)! isochoric pupil 0 mm!
inferior con3ucti#a palpebra
hyperemiahyperemia! icteric sclera '==)
ose C nasal flaring 'U)! eutrophy concha
5ars C within normal limits
$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)
ec C lymph node enlargement! 3ugular #enous pressure @U
cmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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?nputY ?
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The echocardiogram re#elead se#ere infundibular pulmonary stenosis with a large
but mild alignment #entricular septal defect and a large aortic o#erride 'E6/>).
There was no patent ductus arteriosus! no pericardial effusion! and no collateralimage.
8onclusionC tetralogy of fallot.
Fluid balance
'//.//)
?nputY ?
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murmur 'U)! systolic e3ection murmur grade ???
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$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)
ec C lymph node enlargement! 3ugular #enous pressure @UcmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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Follow up 0,stDecember /, 'Day 9)
& C 1lusih sin 'U)! shortness of breath 'U)\
2 C sensYcompos mentis 1PY,//9/ mmHg! H@Y,/4 xi! @@Y: xi!TY07!0L8
Head C 5yes C light reflex 'UU)! isochoric pupil 0 mm!
inferior con3ucti#a palpebra
hyperemiahyperemia! icteric sclera '==)
ose C nasal flaring 'U)! eutrophy concha
5ars C within normal limits
$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)
ec C lymph node enlargement! 3ugular #enous pressure @U
cmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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Fluid reuirement for the next 7 hours Y 0// cc = :/ cc Y / cc
',:.//)
?nputY ?
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?nputY ?
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Fluid balance
'//.//)
?nputY ?
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% C Tetralogy of fallot U failure to thri#e
P C =
==
=
=
1ed rest
@egular meals ,6// cal with : gram protein2 *i nasal cannule 'if necessary)
Propranolol 4 x ,/ mg
*actulac syr x 8th ?? 'if necessary)
PlanC cardiac catheteri+ation! phlebotomy
Fluid balance
'//.//)
?nputY ?
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murmur 'U)! systolic e3ection murmur grade ???
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%nti H8< egati#e 8ut off index E ,/
Fluid balance
'//.//)?nputY ?
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manus and pedis! cyanosis 'U).
% C Tetralogy of fallot U failure to thri#e
P C ==
=
=
=
=
1ed rest@egular meals ,6// cal with : gram protein
2 *i nasal cannule 'if necessary)
Propranolol 4 x ,/ mg
Paracetamol 0 x ,6/ mg 'if necessary)
*actulac syr x 8th ?? 'if necessary)
PlanC cardiac catheteri+ation and phlebotomy on 9th-anuary /,0
Fluid balance
'//.//)
?nputY ?
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both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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5ars C within normal limits
$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)ec C lymph node enlargement! 3ugular #enous pressure @U
cmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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2utputY ?* U I2P Y 9/ cc U ,// cc Y ,9/ cc
1alanceY ?nput = 2utput Y ,// cc = ,9/ cc Y =9/ cc
Fluid reuirement for the next 7 hours Y 0// cc U 9/ cc Y 09/ cc'/7.//)
?nputY ?
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=
=
==
=
=
2 *i nasal cannule 'if necessary)
Three way
? 6/ gtti 'micro)?n3. cefotaxime 9// mg, hours 'day ,) 'started /9.0/)
Propranolol 4 x ,/ mg
*actulac syr x 8th ?? 'if necessary)
Cardiac catheterization report (08.48-09.27)
Angiography:Hand injection at innominate ein: no per!i!tent "e#t !$%c"aian ein&ight entric"e: "arge '* aortic oerriding* !eere in#$ndi%$"ar p$"monary!teno!i!* +,A 7* mm* &,A 8* mmAortogram: good coronary artery po!tion* no co""atera"* no patent d$ct$!
arterio!$!
60
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8onclusion C Tetralogy of fallot
aata index ,7:! $c Goon ratio ,!0,
ote C During procedure! ,6/ cc blood has been taen 'phlebotomy)
%d#ice C (eep following until the patient fully awae
atchout for bleeding at puncture site
8ontinue cefotaxime i.#. for total days
Follow up :th-anuary /,0 'Day ,4)
& C Post cardiac catheteri+ation day ,! 1lusih sin 'U)! shortness of breath 'U)\
64
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2 C sensYcompos mentis 1PY;/9/ mmHg! H@Y,: xi! @@Y0 xi! TY0:L8
Head C 5yes C light reflex 'UU)! isochoric pupil 0 mm!
inferior con3ucti#a palpebra normal! ictericsclera '==)
ose C nasal flaring 'U)! eutrophy concha
5ars C within normal limits
$outh C lips cyanosis 'U)! cyanotic tongue 'U)! oral
candidiasis '=)! atrophy papilla '=)
ec C lymph node enlargement! 3ugular #enous pressure @U
cmH2
Thorax C symmetric fusiform! retraction '=)O tactile fremitus
leftYright! normal impressionO percussion resonant in
both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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both lungsO respiratory sound #esicular! no additional
soundO ictus cordis un#isibleO single & heart sound!
murmur 'U)! systolic e3ection murmur grade ???
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CHAPTER 4
DISCSSION
$Q! 7 years old! presented to Pediatrics Department at Ha3i %dam $ali General
Hospital 8enter on December 6th/, at ,7.// with the main complaint history
of bluish sin since he was 6 months. The complaint was experienced along with
the shortness of breath! easy of fatiguability! and hypoxic spells. Parents pro#ed
there was freuent of suatting since that. The patient was admitted to emergency
unit because he arri#ed late and pediatric"s cardiology polyclinic subunit has
closed.
%ccording to the history taing! the patient was admitted to the hospital with
cyanotic presentation. *ooing at complaint of shortness of breath and easy of
fatiguability! physicians would lie to mae diagnosis to cardiopulmonary
disease. 2nset of disease since childhood mae the diagnosis to a congenital
disease. ?n the cyanotic 8HD group! there were predominant defects! tetralogy
of Fallot 'T2F) and transposition of the great arteries 'TG%)! while T2F was the
most common and twice as pre#alent as TG% '4.9,/!/// births #s .0,/!///
births! respecti#ely).4 $ost of the newborns with TG% will die immediately while
T2F commonly result in sur#i#al to infancy and adulthood.6!;
2n examination! the patient was both centrally dan peripherally cyanotic. ?n
extremities! there was shown a grade 0 clubbing fingers. 8ardio#ascular system
re#ealed a pulse of ,// bpm! moderate #olume! and regular. The blood pressure
was ,//9/ mmHg! apex beat was localised in the 6 thleft intercostal space within
mid cla#icular line. 2n auscultation! there was loud single second heart sound of
pulmonary component! and grade ???
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was a pansystolic murmur at the entire left sternal border! but seems to be
o#erlapping with e3ection systolic murmur. This physical examination mae a
stronger clinical consideration to a cyanotic congenital heart disease.
History taing of both T2F and TG% were presented similar. 1oth
presented with cyanosis! dyspnea on exertion! easy fatiguability! difficulty in
feeding! spells! and suatting.9!;?n T2F! infant will o#ercome a failure to thri#e
complication while in TG%! infant growth and de#elopment normal or sometimes
bigger. ?n auscultation! no murmur will be heard in infants with an intact
#entricular spetum except there is complication of pulmonary stenosis.; ?n this
case! the patient showed failure to thri#e condition and there was a systolic
e3ection murmur in auscultation.
?n blood laboratory analysis! the hemoglobin was ! gd* and haematocrit
was 9,>. Platelet count was low and blood gas analysis showed acidosis
metabolic with partial compensation. His serum electrolyte was normal. 8hest
radiography showed an enlarged cardiac silhoutee with left #entricular
preponderance! left sided aortic arch! and dilated pulmonary artery.
1lood laboratory analysis only showed the se#erity of hemoconcentration
and thrombocytopenia and can"t differ both T2F and TG%. ?n this patient!
planning of phlebotomy has been made and done in 9th -anuary /,0 in the
procedure of catheteri+aation ',6/ cc blood was collected). 5lectrocardiography
won"t help to differentiate both diseases also! where both showed @%D and @
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?n symptomatic 7=year=old infant! surgical consideration will be preferred.76
Howe#er! surgery should ha#e been carried out in 0=,, months of age because this
option had the most rapid reco#ery from operati#e therapy.77&tudy by Poorsi!
et al. showed that complications of surgery will increase significantly after /
years of age.7:The patient"s parents has been told that his child suffered from
congenital heart disease but no furhter action was taen because lac of education
and nowledge.
Furtherly! an angiography procedure was done in order to planning surgical
inter#ention.;!6;&urgery can be done by Fontan or @astelli procedure. aata
index was ,7: and $cGoon ratio ,.0, which both didn"t fulfill the criteria for
surgery. &o! supporti#e management should be done awating for the surgery. The
patient referred to -aarta for surgical preparation and inter#ention.
6;
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CHAPTER ,
SMMARY
$Q! 7 years old! presented to Pediatrics Department at Ha3i %dam $ali General
Hospital 8enter on December 6th/, at ,7.// with the main complaint history
of bluish sin since he was 6 months. The complaint was experienced along with
the shortness of breath! easy of fatiguability! hypoxic spells! and suatting. 2n
inspection and palpation! there was a presentation of cyanosis and clubbing
fingers. 2n heart auscultation! there was loud single second heart sound of
pulmonary component! and grade ???
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REFERENCES
,. Hoffman -?5. ?ncidence! mortality and natural history. ?nC )ediatric
*ardiology. %nderson @H! 1aer 5-! $acartney F-! et al 'eds). 8hurchill
*i#ingstoneC *ondon! I(C //O ,,,K,0;.
. @oger
8/21/2019 Case Report Tetralogy of Fallot-complete
67/72
,. -enins (-! 8orrea %! Feinstein -%! 1otto *! 1ritt %5! Daniels &@! et al.
oninherited ris factors and congenital cardio#ascular defectsC 8urrent
nowledge a scientific statement from the american heart association councilon cardio#ascular disease in the young. 8irculation. //9O,,6'0)C;;6=0/,4
,0. 1him3i &. &etni G! $ancini $8! Gaeta T-! Donson D%. &ander G5. /,.
Tetralogy of Fallot. %#ailable fromC
httpCemedicine.medscape.comarticle/06;4;=o#er#iew. A%ccessed -anuary
9 /,0B.
,4. Piran &. /,/. The 8linical &pectrum of %dults with Tetralogy of
FallotC8ardiac and 5xtra=cardiac Features and *ate 2utcomes. %#ailable fromC
httpsCtspace.library.utoronto.cabitstream,:/96:;40Piran_&ara_/,/,,_
$sc_thesis.pdf. A%ccessed -anuary 0 /,0B.
,6. 1ernier P*! &tefanescu %! &amouo#ic G! and Tcher#eno# 8?. The
8hallenge of 8ongenital Heart Disease orldwideC 5pidemiologic and
Demographic Facts. &emin Thorac 8ardio#asc &urg Pediatr 8ard &urg %nn
/,/O ,0C7=04.
,7. 1ianchi D! 8rombleholme T! %lton $D! $alone F. FetologyC Diagnosis and
$anagement of the Fetal Patient! ndedition. 8hapter 6 Tetralogy of Fallot.
Inited &tatesC $cGrawHillC 07;=90.
,9. $a++anti *! 8acciari 5. 8ongenital heart disease in patients with Turner"s
syndrome. ?talian study group for Turner syndrome. *lin. +ndocrinol.
//,C64O7;K90.
,:. 1him3i &. &etni G! $ancini $8! Gaeta T-! Donson D%. &ander G5. /,.
Tetralogy of Fallot. %#ailable fromC
httpCemedicine.medscape.comarticle/06;4;=o#er#iew. A%ccessed -anuary
9 /,0B).
,;. @auch @! Hofbec $! Qweier 8! (och %! Qin &! Trautmann I! et al.
8omprehensi#e genotype=phenotype analysis in 0/ patients with tetralogy of
fallot. - $ed Genet. /,/O49'6)C0,=0,.
/. &waby $-. /,,. Familial ?nheritance in 8ongenital Heart Disease. %#ailable
fromC httpsCtspace.library.utoronto.cabitstream,:/90,40,&waby_-odi=
%nn_$_/,,,,_$&c_Thesis.pdf. A%ccessed -anuary , /,0B.
,. &achde# $&! 1hagya#athy %!
8/21/2019 Case Report Tetralogy of Fallot-complete
68/72
. &cambler P-. The ,, deletion syndromes. um -ol 'enet.
///O;',7)C4,=7
0. Hastings P-! *upsi -@! @osenberg &$! ?ra G. $echanisms of change in gene
copy number. at @e# Genet. //;O,/':)C66,=74.
4. 1assett %! &cherer &! 1r+ustowic+ *. 8opy number #ariations in
schi+ophreniaC 8ritical re#iew and new perspecti#es on concepts of genetics
and disease. %m - Psychiatry. /,/O,79':)C:;;=;,4.
6. Frederic %. /,/. Tetralogy of Fallot. %#ailable fromC
httpCpcics.orgpdfTetralogy>/of>/Fallot.pdf. A%ccessed -anuary ;
/,0B.
7. (elly @G! 1rown %! and 1ucingham $5. The arterial pole of the mouse
heart forms from Fgf,/=expressing cells in pharyngeal mesoderm. De# 8ell
//,O,C406K44/.
9. aldo (*! (umisi DH! allis (T! &tadt H%! Hutson $@! Platt DH.
8onotruncal myocardium arises from a secondary heart field. De#elopment
//,O,:C 0,9;K0,::.
:. ard 8! &tadt H! Hutson$` (irby $*. %blation of the secondary heart field
leads to tetralogy of Fallot and pulmonary atresia. De# 1iol //6O:4C9K:0.
;. Garcia -$. %d#ances in $olecular Genetics of 8ongenital Heart Disease. @e#
5sp 8ardiol //;O7'0)C4=6.0/. Felice
8/21/2019 Case Report Tetralogy of Fallot-complete
69/72
07. %a+awa H! (omuro ?C 8ardiac transcription factor 8sxx.6C its role in
cardiac de#elopment and disease.)harmacol. Ther.//6O,/9C6K7:.
09. Pi++uti %! &aro+y %! ewton %*! 8onti 5! Flex 5! Digilio $8. $utations ofQFP$F2G gene in sporadic cases of tetralogy of Fallot. Hum $utat
//0OC09K099.
0:. emer G! Fadlalah F! Ista -! emer $! Dbaibo G! 2beid $. % no#el
mutation in the G%T%4 gene in patients with Tetralogy of Fallot. Hum $utat
//7O9C;0K;4.
0;. Peterin T! Gibson %! *oose $ ` Patient @. The roles of G%T%=4! =6 and =7
in #ertebrate heart de#elopment. &emin 8ell De# 1iol //6O,7C:0K;4.
4/. Piarainen &! Toola H! (erel @! @usoaho H. G%T% transcription factors
in the de#eloping and adult heart. *ardiovasc 2es. //4O70C,;7=/9.
4,. ei D! 1ao H! *iu M! Qhou ! ang V! *i @G! et al. G%T%6 loss=of=
Function $utations Inderlie Tetralogy of Fallot.Int -ed 3ci /,0O,/',)C04=
4.
4. Peters THF. $olecular Phenotype of @ight /Peters!>/Theodorus
>/Hendrius>/Franciscus.pdf. A%ccessed -anuary ; /,0B.
40. (arnath 1. Digital 8lubbingC % &ign of Inderlying Disease. Hosp Phys &ept
//0O 6=9.
44. @io3a=$a++a D! *ieber 5! (amath < and (alpatthi @. %symmetric crying
faciesC a possible marer for congenital malformations. - $atern Fetal
eonatal $ed. //6O,:'4)C96=9. AabstractB
46. 1him3i &. &etni G! $ancini $8! Gaeta T-! Donson D%. &ander G5. /,.
Tetralogy of Fallot. %#ailable fromC
httpCemedicine.medscape.comarticle/06;4;=o#er#iew. A%ccessed -anuary9 /,0B.
47. 1aumgartner H! 1onhoeffer P! De Groot $&! Haan FD! Deanfield -5! Galie
. 5&8 Guidelines for The $anagement of Grown=Ip 8ongenital Heart
Disease 'ew
8/21/2019 Case Report Tetralogy of Fallot-complete
70/72
4:. *ill $8! Perloff -(! 8hild -&. Pathogenesis of Thrombocytopenia in 8yanotic
8ongenital Heart Disease. %m - 8ardiol //7O;:C64=:.
4;. 8aminos 2D. ,;;;. 8ongenital Heart Diseases Their &tudy and Treatment.
8hapter ,9 Tetralogy of Fallot. Inited &tatesC $8? Publications. %#ailable
fromC httpCwww.redtail.netowc,9.html.
6/. $ahmoud %1! Tantawy %5! (ouatli %%! 1aslaim G$. PropranololC a new
indication for an old drug in pre#enting postoperati#e 3unctional ectopic
tachycardia after surgical repair of tetralogy of Fallot. ?nteract 8ardio#asc
Thorac &urg //:O9')C,:4=9.
6,. &tephenson *! $ac
8/21/2019 Case Report Tetralogy of Fallot-complete
71/72
6;. 8obanoglu %! &chult+ -$. Total 8orrection of Tetralogy of Fallot in the First
ear of *ifeC *ate @esults. %nn Thorac &urg //O94C,00=,0:.
7/. Hashem+adeh (! Hashem+adeh &. 5arly and *ate @esults of Total 8orrection
of Tetralogy of Fallot. %cta $edica ?ranica /,/O4:')C,,9=.
7,. Giannopoulos $! 8hat+is %8! Tsoutsinos %l! 1obos D! (ontrafouris (!
$ylonais $. &urgical @esults %fter Total TransatrialTranspulmonary
8orrection of Tetralogy of Fallot. Hellenic - 8ardiol //6O47'4)C90=:.
7. (anter (@! (ogon 15! (rishbom P$! 8arloc P@. &ymptomatic eonatal
Tetralogy of FallotC @epair or &hunt %nn Thorac &urg /,/O:;C:6:=70.
70. 1chel
//;O,4')C9=;.
9/. (othari &&. $echanism of cyanotic spells in tetralogy of Fallot==the missing
lin ?nt - 8ardiol.,;; 2ctO09',)C,=6.
9,. Gary @F! *udwig &. /,/. Textboo of Pediatric 5mergency $edicine! 7thed.
Inited &tatesC $cGrawHill.
77
http://www.ncbi.nlm.nih.gov/pubmed/1428277http://www.ncbi.nlm.nih.gov/pubmed/14282778/21/2019 Case Report Tetralogy of Fallot-complete
72/72
9. icholson @! Gentles T. /,/. Tetralogy of Fallot=Hypercyanotic &pells.
%#ailable fromC
httpCwww.adhb.go#t.n+starshipclinicalguidelines_DocumentsTetralogy
>/Hypercyanotic>/&pell.pdf. A%ccessed -anuary 9 /,B.
90. *aaso 5! %hou#uo -! @osenberg PH. 1lood flow in the lower limbs in the
nee=chest positionC Iltrasonographic study in unanaesthetised #olunteers.
%naesthesia ,;;7O6,',)C,,,0=7.
94. *am 8F! *iu 8!Tseng F*! &ung H! Huang 88! -iang $-! et al.High=dose
morphine impairs #ascular endothelial function by increased production of
superoxide anions. %nesthesiology //9O,/7'0)C60=9.
96. Doorn 8