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Adult Congenital Heart Disease
An Illustrative Case
That Teaches Where We Have Been, Where We Are and Where We Are
GoingThomas M. Bashore MD
Professor of Medicine
Senior Vice Chief, Duke Medical Center
Duke Heart Center
Outline
• The Population
• Case Presentation– Historical review
– Exam and procedures now used
– The clinical issues
• Future options– Our patient
– Adult congenital heart patients in general
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The Population
• About 1.5-2.0 million adults living with congenital heart disease in the U.S.– Almost 1 per 100 births. 40,000 births per year– #1 cause of death among birth defects– 25% will need surgery to survive– About 85% with CHD now live to adulthood
• Many more adults now living with congenital heart disease than children– 46% with “simple”, 38% with moderately
complex, 16% with “great complexity”
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Improved Outcomes In Congenital Heart Disease
Larsen SH et al. JACC 2017;69:272
yearsImprovement in outcomes evident in every category over the years
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Patient Presentation
• History– 29 year old woman who has known tetralogy of Fallot
and has undergone 2 prior surgeries, first as an infant, then as a teenager. Just moved to your area and establishing care. Denies any CV symptoms except a few palpitations at times and very mild dyspnea going up stairs.
– She has a lot of questions
• Physical examination:– Healthy appearing. Normal BP at 118/72 mmHg. HR of 73
bpm with occasional premature beat. Normal lung exam. Cardiac exam: No JVD. Positive hepatojugular reflux. Mild RV lift. Grade 2/6 pulmonary flow murmur. Grade 1/4 pulmonary regurgitation murmur. Otherwise normal.
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In the News Lately
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We know kids generally do well after TOF repair
Shaun White
Duke Heart Center
Tetralogy of Fallot Anatomy
VSD- usually large. 80% perimembranousSubpulmonic stenosis- significant in most casesPulmonary valve- may be bicuspid. May or may not be stenoticOver-riding aorta- if >50% over the RV, called Double Outlet RVLAD from RCA crossing RV outflow in 3-7%
Narrowed Subpulmonary Outlet
VSD
Overriding aortic valve
HypertrophicRV Walls
Reported 3 cases and put the syndrome together with a review of the literature in 1888
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Being at the Right Place at the Right Time: Wilhelm Ebstein
Prolific writer:-272 papers. Mostly on nutrition!!(Pel-Ebstein fever)
-Only 12 in cardiologyDescribed a single case report of a 19 year old:
W. Ebstein. Über einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben. Archiv für Anatomie, Physiologie und wissenschaftliche Medicin, Leipzig, 1866, 238-254
RA
RV
LA
LV
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Tetralogy of Fallot
• Most common cyanotic heart lesion (356/million live births)
• Accounts for ~15% of new referrals to ACHD clinics
• Prior to surgical repair, ~50% died in first few years of life and almost all died by 30 years of ageFox D; Krasuski RA et al. CCJM. 2010;77(11):821-8.
RA
RVLV
LA
Ao
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Creation of theSystemic to Pulmonary Artery
Shunt
Blalock A, Taussig H. The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia. JAMA 1945;128:189
Helen Taussig noticed children with TOF did better if ductus did not close
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Initial Palliative Procedures in TOF
Waterston Shunt1962
ModifiedBlalock-Taussig
1962Classic
Blalock-Taussig1944
Potts1946
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Tetralogy of Fallot Repair
VSD Patch
RV Outflow Patch
Lillehei CW et al. Direct vision intracardiac correction of the TOF, pentology of Fallot and pulmonary atresia defects. Ann Surg1955;142:418.
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The Clinical Problem of Low PressurePulmonary Regurgitation
PA
PA
RV
RV
Low Pressure PR High Pressure PR
May be little diastolic gradient between PA and RV. May be soft murmur despite severe PR.
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Chest X-Ray in TOF
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Chest X-Ray in TOFThe Dutch Version
https://www.slideshare.net/z2jeetendra/congenital-heart-disease-and-vascular-abnormalityxray-findings
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Echocardiography in Repaired TOF
Pulmonary SystolicFlow Doppler
Pulmonary DiastolicFlow Doppler
RALA
RV
LV
Ao
PV
PA
RV
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Cardiac MRI in Repaired TOF
RV Outflow Patch
RV
LV
RV Outflow Patch
RV
LV
PA
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Cardiac MRI in Repaired TOF
RPA LPA
MPARV LVRA
LPAAo
SVC
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Coronary CTA
Ropers D et al. JACC Img 2008;1:679
PA
Ao
LAD anterior to PA
RV
http://aibolita.com/heart-and-vessels/50874-anomalous-aortic-origin-of-coronaries.html
LAD
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What About Her Palpitations?
• Does she need them further evaluated?1. Maybe
2. Yes, but she is just anxious
3. Yes, as they might be a big deal
4. No, save the money
5. I have no earthly idea
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ECG in Repaired TOF
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QRS Width in TOF
Gatzoulis MA et al Circulation 1995;92:23
QRS tends to prolong as RVsize increases
180 msec
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Sudden Cardiac Death
Circulation 2011;124:672
Circulation 2012;126:1944
Majority Unexplained
In Adults with Congenital Heart Disease
Presumption in TOF is Sudden Death related to ventricular arrhythmias
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Ventricular Arrhythmias in TOF
Eur Heart J. 2016;38:268-276
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What About Antibiotic Prophylaxis
• Does she need it?1. Yes
2. No
3. Maybe
4. Oh heck, why not?
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Lifetime Risk of Endocarditis
• General Population 5-7 cases per 100,000 patient years
• Cardiac Conditions Per 100,000 patient years– MVP with no murmur 4.6– MVP with MR 52– VSD 145 (1/2 risk if closed)– AS 271– Rheumatic heart disease 380-440– Prosthetic heart valve 308-383– Cardiac surgery for native IE 630– Prior native endocarditis 740– Surgery for prosthetic IE 2160
Pallasch TJ. Dent Clin North Am 2003;47:6
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Absolute Risk of Endocarditis from a Dental Procedure
• Must be a lot since the AHA told us so for over 50 years and the dentist is the problem
• Estimates of Absolute Risk from a dental procedure:– General population 1 per 14 million– MVP 1 per 1.1 million– Congenital Heart Disease 1 per 475,000– Rheumatic Heart Disease 1 per 142,000– Prosthetic Valve 1 per 114,000– Prior endocarditis 1 per 95,000
• Number of episodes that could be prevented is very, very small even if 100% effective
• Difficult to design a trial to prove efficacyPallasch TJ. Dent Clin North Am 2003;47:66
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Clinical Studies of IE Prophylaxis
• Prospective Randomized Trials: NONE
• Retrospective 2 year case control study– Netherlands
• IE rare after dental procedures so prevention rarer, even if 100% effective
• 20 cases of IE after dental procedure:
5 occurred despite adequate prophylaxis
Van der Meer JT, et. al. Lancet 1992;339:1
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Class IIa (LOE B): Before Dental Procedures:a) Prosthetic cardiac valve or prosthetic material used for cardiac valve repair.
b) Previous infective endocarditis
c) Unrepaired and palliated cyanotic CHD, including surgically constructed palliative shunts and conduits.
d) Completely repaired CHD with prosthetic materials, whether placed by surgery or catheter intervention, during the first 6 months after the procedure
e) Repaired CHD with residual defects at the site or adjacent to the site of a prosthetic patch or prosthetic device that might inhibit endothelialization
Class IIa (LOE C): At time of membrane rupture before vaginal delivery:a) Prosthetic cardiac valve or prosthetic material used for cardiac valve repair.
b) Unrepaired and palliated cyanotic CHD, including surgically constructed palliative shunts and conduits.
Class III (LOE C): None for nondental procedures in the absence of active
Infective Endocarditis Prophylaxisin Adult Congenital Heart Disease
Warnes CA et al. JACC 2008;52:1890-19
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She Asks Whether It is OK to Get Pregnant
• What do you think is her risk of pregnancy?
1. None
2. Low or trivial
3. Moderate
4. High
5. Very High
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Maternal Risk Stratification
• ZAHARA (Cardiac Disease in Pregnancy)– Weighted Risk Score (mechanical valve, LV
outflow obstruction, arrhythmias, hx of meds, cyanosis, AV valve regurg, CHF).
• CARPREG (Cardiac Disease in Pregnancy)– Risk Score (Poor functional Class, prior
cardiac events, LV heart obstruction, LVEF 40%)
• WHO (World Health Organization)– Risk Classification
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• Prior cardiac event
• NYHA Class >II
• Cyanosis (sat <85%)
• Left heart obstruction
• Systemic ventricular dysfunction
Siu S et al. Circulation 2001
Maternal Cardiac Risk FactorsCanadian CARPREG study
15 (AVA <1.5 cm2)20 (MVA <2.0 cm2)30 (LVOT peak gradient >30mmHg)40 (LVEF <40%)
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WHO Classification
Definition Types of CHD
I No increase in morbidity or mortality Mild PS, small PDA, repaired ASD, VSD, PDA, PAPVR,
II Small increase in mortalityModerate increase in morbidily
Unoperated ASD or VSDRepaired tetralogy of Fallot
II-III Small increase in mortalityModerate increase in morbidily
Mild LV dysfunction, native or prosthetic tissue valvular disease, Marfan without dilatation,Bicuspid with aortic root <45 mm, repaired coarctation
III Significant increase in mortality or morbidity
Systemic RV, Fontan, unrepaired cyanotic heart disease, complex CHD, mechanical valve, Marfan with aorta >40- 45 mm, Bicuspid with aorta >45-50 mm
IV Extreme risk. Pregnancy contraindicated
Pulmonary hypertension, severe systemic ventricular dysfunction with sx, symptomatic AS, severe native coarctationRegita-Zagrosek et al Eur Heart J
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Carrying a Pregnancy to Term
Regitz-Zagrosek V. European Heart J 2011
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General ApproachTo Pregnancy in Congenital Heart Disease
Patients• Pregnancy management
– Fetal echo between 18-22 weeks– Generally vaginal delivery– Cesarean for anticoagulated pts, Marfan, aortic aneurysm,
severe AS or pulmonary hypertension• Termination
– Only for highest risk– Dilation and evacuation in hospital setting– Preferably in first trimester before symptoms
• Post-pregnancy– Postpartum monitoring
• First 48 hours• Up to 6 weeks for moderate to high risk
Brickner ME. Circ 2014:130:273
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She is a Little Dyspneic
• Does she need a pulmonary valve replacement due to her pulmonary regurgitation?
1. Yes
2. No
3. Maybe so
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She is a Little Dyspneic
• Indications for PVR in repaired tetralogy of Fallot– Multiple, but basically dependent on PR
severity and RV size and function
– RV volume data from MRI- >140-170 ml/m2
RVEDI
• For the sake of argument, let’s say she does– RVEDI by MRI = 150 ml/m2
– Severe PR due to transannular patch across the PV
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Surgical Options for Intervention in
Severe PR following TOF Repair• Surgical
– Bioprosthetic• Pericardial• Porcine
– Homograft– Xenograft– Mechanical
Mechanical PVR after tet repair
Stulak et al Semin TCV Surg2016;82
Cryopreserved or decellularized
homografts
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Armenian Valve Replacment
Porcine Xenograft
Cost: One Dollar
And you get to eat the pig!
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Options for Intervention in Severe PR following TOF Repair
• Surgical– Bioprosthetic PVR
– Mechanical PVR
– Homograft/Xenograft PVR
• Percutaneous Options– Melody Valve®
– Sapien®
– Others
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Transcatheter Pulmonic Valve Replacement
(TPVR)
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First Percutaneous Valve Replacment
CowJugularVein
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Data on Melody Valve
IDE= Investigation Device Exemption; PAS= Post-approval Study; PMSS= Post-market Surveillance Study
Medtronic.com website. 7/21/2016
Pre-stenting has markedly reduced PR incidence
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So What Can Our Patient Expect in the Future?
• Bioprosthetic valve stenosis/regurgitation
• Possible LV dysfunction
• Possible aortic root enlargement and AR
• Arrhythmias- atrial and ventricular
• Worsening pulmonary artery branch stenosis– Possible need for stenting
• Bottom Line: Most ACHD patients need
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Some of the “Bigly” Issues in Adult Congenital Heart Disease- From a Patient Perspective
• Social acceptance
• Psychological support
• Exercise options and sports
• Insurability
• Paying for expensive diagnostic and treatment regimens
• Employment
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Some of the “Bigly” Issues in Adult Congenital Heart Disease- The Physician
Perspective
• Evidence-based data lacking– Variety of Society Guidelines- most everything LOE C
– Need for national shared database (Examples)• RV response to meds not the same as LV response
• Pulmonary hypertension treatment variable
• Need better understanding of when to advance treatment options
• Transplant and advanced therapies problematic
• Genetics poorly defined. Possible genetic engineering.
• Inadequate number of practitioners– 2016- ACGME approved Adult Congenital Fellowships
• Inadequate communication of new knowledge
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National and International Advocacy
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3D Modeling and Printing May Help to Guide RVOT Intervention and Predict Problems
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49% 15% 4% 17% 13%
Schievano S et al. JCMR 2007;9:687-95.
Variations in RVOT Morphology
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Reducing the Size of the RVOT to Create a Better Landing
Zone
Sizarov A et al. Arch CVD 2016;109:348-58.
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Self-expanding platforms
• Self-expanding nitinol stent with woven polyester covering and porcine pericardial valve in center
• 25F delivery system
• Early animal data promising
Schoonbeek RC et al. Circ Cardiovasc Interv 2016;9:e003920.
Harmony Valve
Venus PValve
• Self-expandable nitinol stent with porcine pericardial valve – prox/dist10mm>center
• 14-22F delivery system
• Early animal data promising
• Report of 6 successful European implants
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Tissue Engineering
• Tissue engineering with autologous cells on self-expanding stent platform
Schlegel F et al. Med Sci Monit Basic Res 2015;21:135-40.
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Novel Educational EffortsThe Stanford Virtual Reality
Heart
http://www.stanfordchildrens.org/en/innovation/virtual-reality/stanford-virtual-heart
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Stanford Virtual Heart Project
http://www.stanfordchildrens.org/en/innovation/virtual-reality/stanford-virtual-heart
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Summary
• We have come a long way in recognizing issues in patients with ACHD as exemplified by our patient with tetralogy of Fallot
• There is great excitement that recent efforts will result in a marked improvement in the care of the ACHD population
• Technologic advances and a national effort to educate everyone on issues facing this group of patients is underway and is overdue
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THANKS!