Aortic Root Dilatation and Mitral Valve Prolapse in Marfan's Syndrome An Echocardiographic Study By OWEN R. BROWN, HENRY DEMOTS, M.D., FRANK E. KLOSTER, M.D., ALDYTH ROBERTS, M.N., VICTOR D. MENASHE, M.D., AND RODNEY K. BEALS, M.D. SUMMARY Echocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic and echocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aor- tic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic root dilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse in patients with Marfan's Syndrome was essentially equal in children and adults of the same sex. None of the nine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinically apparent connective tissue disorder had aortic root enlargement. Auscultatory examination and phonocardiography revealed abnormalities in 54% of the patients with Marfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females) while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aortic regurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than male children (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33% of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syn- drome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse (90%) than in those with Marfan's (46%). It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ul- trasound is a more sensitive indicator of these abnormalities in such patients than auscultation or phonocar- diography. P'REVIOUS REPORTS based upon auscultatory and angiographic findings have noted mitral re- gurgitation and aortic root dilatation in patients with Marfan's Syndrome.' Due to the invasive nature of angiography, sampling of the Marfan's patient pop- ulation by these techniques has been somewhat limited. Three major retrospective surveys relying on necropsy or noninvasive parameters other than ul- trasound have reported aortic root dilatation, aortic regurgitation and/or mitral regurgitation in 61%,' 40%2 and 32%3 of the Marfan's patient population studied. This report describes echocardiographic and phono- From the Division of Cardiology, Department of Medicine, and the Division of Orthopedics, Department of Surgery, and the Crippled Children's Division, Child Development and Rehabilita- tion Center, University of Oregon Medical School, Portland, Oregon. Mr. Brown is supported in part by grants from the Oregon Heart Association and the Tri-County Chapter of the March of Dimes. Address for reprints: Owen R. Brown, Division of Cardiology, University of Oregon Medical School, Portland, Oregon 97201. Received January 27, 1975; revision accepted for publication May 22, 1975. Circulation, Volume 52, October 1975 cardiographic findings in 35 patients with skeletal and/or occular confirmation of Marfan's Syndrome and a family history of the disorder. In addition ten patients without Marfan's but with angiographic evidence of mitral prolapse were studied and the findings compared to those patients with Marfan's Syndrome. This study represents the first reported sur- vey of this syndrome utilizing cardiac ultrasound for noninvasive quantitation of aortic size and evaluation of mitral valve function. Methods and Techniques Patient Selection Thirty-five patients with Marfan's Syndrome underwent echocardiographic, phonocardiographic, and auscultatory examination. The diagnosis of Marfan's Syndrome was based on the presence of both skeletal (arachnodactyly and dolichostenomelia) and occular (lens dislocation) abnor- malities (27 patients), or on skeletal abnormalities alone if a well-documented family history of Marfan's Syndrome ex- isted (eight patients). The 35 patients selected for analysis represent all available patients on record at this institution who met these criteria at the time or this study. This patient group consisted of 23 males and 12 females. Nine of the males and five of the females were less than 16 651 by guest on May 12, 2018 http://circ.ahajournals.org/ Downloaded from
Transcript
Aortic Root Dilatation and Mitral ValveProlapse in Marfan's Syndrome
An Echocardiographic Study
By OWEN R. BROWN, HENRY DEMOTS, M.D., FRANK E. KLOSTER, M.D.,
ALDYTH ROBERTS, M.N., VICTOR D. MENASHE, M.D.,
AND RODNEY K. BEALS, M.D.
SUMMARYEchocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten
patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic andechocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aor-
tic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic rootdilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was
found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse inpatients with Marfan's Syndrome was essentially equal in children and adults of the same sex. None of thenine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinicallyapparent connective tissue disorder had aortic root enlargement.
Auscultatory examination and phonocardiography revealed abnormalities in 54% of the patients withMarfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females)while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aorticregurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than malechildren (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33%of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syn-drome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse(90%) than in those with Marfan's (46%).
It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ul-trasound is a more sensitive indicator of these abnormalities in such patients than auscultation or phonocar-diography.
P'REVIOUS REPORTS based upon auscultatoryand angiographic findings have noted mitral re-
gurgitation and aortic root dilatation in patients withMarfan's Syndrome.' Due to the invasive nature ofangiography, sampling of the Marfan's patient pop-ulation by these techniques has been somewhatlimited. Three major retrospective surveys relying onnecropsy or noninvasive parameters other than ul-trasound have reported aortic root dilatation, aorticregurgitation and/or mitral regurgitation in 61%,'40%2 and 32%3 of the Marfan's patient populationstudied.
This report describes echocardiographic and phono-
From the Division of Cardiology, Department of Medicine, andthe Division of Orthopedics, Department of Surgery, and theCrippled Children's Division, Child Development and Rehabilita-tion Center, University of Oregon Medical School, Portland,Oregon.
Mr. Brown is supported in part by grants from the Oregon HeartAssociation and the Tri-County Chapter of the March of Dimes.
Address for reprints: Owen R. Brown, Division of Cardiology,University of Oregon Medical School, Portland, Oregon 97201.
Received January 27, 1975; revision accepted for publicationMay 22, 1975.
Circulation, Volume 52, October 1975
cardiographic findings in 35 patients with skeletaland/or occular confirmation of Marfan's Syndromeand a family history of the disorder. In addition tenpatients without Marfan's but with angiographicevidence of mitral prolapse were studied and thefindings compared to those patients with Marfan'sSyndrome. This study represents the first reported sur-vey of this syndrome utilizing cardiac ultrasound fornoninvasive quantitation of aortic size and evaluationof mitral valve function.
Methods and Techniques
Patient Selection
Thirty-five patients with Marfan's Syndrome underwentechocardiographic, phonocardiographic, and auscultatoryexamination. The diagnosis of Marfan's Syndrome wasbased on the presence of both skeletal (arachnodactyly anddolichostenomelia) and occular (lens dislocation) abnor-malities (27 patients), or on skeletal abnormalities alone if awell-documented family history of Marfan's Syndrome ex-isted (eight patients). The 35 patients selected for analysisrepresent all available patients on record at this institutionwho met these criteria at the time or this study.
This patient group consisted of 23 males and 12 females.Nine of the males and five of the females were less than 16
years of age. The mean age of the males was 20.9years ± 11.8 years with a range of 5 to 52 years. The meanage of the females was 20.9 years + 15.4 years with a rangeof 3 to 61 years.Ten additional patients without evidence of Marfan's
Syndrome underwent echocardiographic, phonocar-diographic, and auscultatory examination. These patientswere selected on the basis of angiographic evidence ofmitral valve prolapse, the complete absence of any clinicalor familial evidence of Marfan's Syndrome or any other con-nective tissue disorder, and the quality of the echographicrecord.
This patient group consisted of four males and sixfemales. One of the males and none of the females were lessthan 16 years of age. The mean age of the males was 31.8years ± 20.9 years with a range of 7 to 51 years. The meanage of the females was 45.5 years ± 14.5 years with a rangeof 26 to 62 years.
T1echnliqutiesEchocardiograms were performed utilizing a Picker
Echoview 10 Ultrasonoscope with a 2.25 M Hz transducer of0.5 inch diameter with an acoustic lens columating thesound beam at 5 cm tissue depth. The echocardiogramswere recorded on either an Electronics for Medicine DR12or a Honeywell #1856 strip chart recorder. All patients werestudied in the supine position with the transducer placed onthe chest wall at the left sternal border. The ideal transducerlocation was the point at which the anterior and posteriormitral valve leaflets could be recorded with the transducerheld nearly perpendicular to the chest wall. Slight rocking ofthe tranisducer in a superior and medial fashion allowedrecording of the aortic root. Great care was taken to notetransdLucer orientation when recording movement of themitral valve. Findings noted in this study are those obtainedwhen the anterior and posterior mitral leaflets were recordedwith the transducer held perpendicular to the chest wall.
Phonocardiograms were recorded on an Electronics forMedicine DRM2 or a Sanborn 550M recorder with Maicocontact microphones placed at the cardiac apex, left lowersternal border, and second left sternal position with a band-pass filter to display a frequency range of 40 to 500 Hz.
Auscultatory examinations were conducted by two dif-ferent observers who were unaware of the phonocardio-graphic or echocardiographic findings.
Measurements and Standards
Aortic root and left atrial dimensions were measured aspreviotusly described.4 The aorta was measured from themost anterior portion of the anterior aortic wall to the mostanterior portion of the posterior aortic wall at end diastole.The left atrium was measured from the most anterior por-tion of the posterior aortic wall to the most anterior portionof the left atrial wall at end systole.
Previouisly established criteria used for evaluation of aor-tic root size are given in table 1.4 5 Aortic root dimensionswhich were abnormally large by at least two of the threecriteria as in figure 1 were considered positive for aortic rootenlargement. All other positive and negative combinationsof the criteria were considered as negative for aortic rootenlargement.
Systolic mitral valve motion was assessed by existingcriteria.6 Normal valve motion was defined as being anteriorfrom the onset of mechanical systole as indicated by move-ment of the left ventricular posterior wall. Valve motionwhich was posterior from the onset of mechanical systole
and which reached its most posterior poirnt at mid-systolewas designated a 'whole systolic" or -hammock" prolapseof the mitral valve (fig. 2). Valve motion which movedabruptly posterior during the last two-thirds of mechanicalsystole was designated a "mid-systolic" prolapse of themitral valve (fig. 3).
Ant AoW
AoV
1 cm
Post AoW
e0g^ , ~~~~~~~LAw
Figure 1
LEhocardiograrrn of the aortic root in a patient with Marfan'sSyndromie. Ant AoW anterior aortic wall; Post AoW = posterioraortic wall; AoV aortic valve; ecg= electrocardiogram;LAw = left atrial wall.
__::_ ta?* ( , - (o_t * ' : t < ' ,a. .. ji + ' v s s./ :o F £ > 6;S .\* ,_, A S \ s n 8 i ff
> \ f 1 x f s a
RV
gd#LAw
LAw
Figure 2
Echocardiogrami of the mitral valve in a patient wth Miarfan'sSyndrome. A "iwhole systolhc of hammock" prolapse is noted.Posterior niotion of the valve hegins from the onset of systole anticontinuies through most of left ventricular contractionr. .vaxirnimposterior mnotion of the ititral valve is reached at ahout mid-systole.Ant MXV =anterior mitral valve leaflet; Post MV = posterior niitralvalve leaflet.
Results
L'h"ciocardliogral;ieThe echocardiographic findings in patients with
Marfan's Syndrome are summarized in table 2 andfigure 4. Thirty-four of thirty-five patients with Mar-fan's Syndrome had a dilated aortic root, mitral valve
Figure 3
Fchocardiograrn of the miiitral valve in a patient with Marfan'sSyndrome. A rrndsystulwc mitral valve prolapse is illuistrated. Abruptposterior motion of the mitral valve begins at midsystole and con-tit1Iucs through the reniainder of left ventricular contraction. Max-irmum. posterior motioni of the valve occurs during the last third ofventricular contraction. ecg = electrocardiograrm RVi= right yen-tricle IXS= interuentricuilar septum, MV = mitral valve,IXw = left atrial wall.
prolapse, or both. The remaining patient in the groupstudied had an aortic root dimension at the outerlimits of normal and no mitral valve prolapse. Aorticroot dilatation was found in 21 of 35 (60%) of thepatients and was more common in males (17 of 23)than in females (4 of 12). There was no significantdifference between the incidence of aortic rootenlargement in children and adults of the same sex
able 2
Echocardiographic Findings in Patients with and without Marfan's Syndrome
A ( lil(1IFlla leAdult A11
With 31arlfon'sNJ.4umbler 9patieints
1. Aoarti(c i'o eiIlsigr ueint I)(en ar em n
2. Milral valve p)rotlapse ot2l ( 22
3. A osri it''c 1 eiilalet t viit 7 ( 7,5'nfild iil 1:11l vnlv tIprolpseTo ial psalleniV wilti 9 (100'-
Withoot MIor'fan'.sNutil sber of atient1A .oril'ic i'oot etil-tl'ge iiet ti 0
o)llb}'2. \Iit vol valve polap se only 1 1t1O008. Aort.' i'oot enlarigeniweit ( )
and mit.ral valve psrolapsseTotal paltl nts xw'itli 1 (100-
The aortic root dimensions of all adults (> 16 years) are illustrated.Dots = patients with Marfan's Syndrome; Squares = patients withprolapse but without Marfan's Syndrome or other connective tissuedisorder. The dotted horizontal line denotes the outer limits of nor-mal. Points anterior to this line represent aortic root enlargement bythe three criteria used. The patients were classified as having aorticroot enlargement only if the aortic root dimensions exceeded at leasttwo of the normal values used. To be noted are patients just aboveor just below the normal values. Most patients with Marfan's Syn-drome classified as having aortic root enlargement exceeded allthree of the normal criteria used or exceeded two of the criteria by alarge amount. Patients without Marfan's but with mitral prolapsewho were near the outer limit of normal by one criteria, wereusually well within normal limits by the remaining two criteria.BSA = body surface area, cm = centimeters, M2 = meters squared,LA = left atrium, Ao = aortic root.
(table 2). Aortic wall thickness was . 3 mm in allpatients. There was no echographic evidence of aorticroot dissection or bicuspid aortic valve in this patientgroup.7 Mitral valve prolapse occurred in 91% of thepatients. The incidence in males (20 of 23) andfemales (12 of 12) was similar. Of the 32 patients withmitral valve prolapse only four had a mid-systolicprolapse, while the remaining 28 had a whole systolicprolapse. Three of the four patients with midsystolicprolapse were male. Two of these males and the onefemale with midsystolic prolapse were members of thesame family. The incidence of mitral prolapse inchildren and adults was equal (table 2). Combinedaortic root enlargement and mitral valve prolapse wasfound in 54% of the patients and was more common inmales (15 of 23) than in females (4 of 12).The predominant echocardiographic lesions or
combination of lesions in patients with Marfan's Syn-drome varied with sex. The most common finding inmales was combined mitral valve prolapse and aorticroot enlargement (15 of 23) followed by isolatedmitral prolapse (3 of 23), and isolated aortic rootdilatation (2 of 23). Isolated mitral valve prolapse was
found in five of 12 females, while combined aortic rootenlargement and mitral valve prolapse was found infour of 12 females.
All ten patients without Marfan's Syndrome butwith angiographic evidence of mitral valve prolapseappeared to have an echocardiographic pattern ofmitral prolapse. Seven of this group had a wholesystolic prolapse. The remaining three had a mid-systolic prolapse. No patient in this group hadechographic or angiographic evidence of aortic rootdilatation. Aortic wall thickness was - 3mm in allpatients. There was no echographic evidence of aorticroot dissection or bicuspid aortic valve in this patientgroup.'
Auscultatorv
Auscultatory examination and phonocardiographyrevealed abnormalities in 54% of the patients withMarfan's Syndrome (table 3). A murmur of aorticregurgitation was only noted in males (8 of 23). Of theeight males with a murmur of aortic regurgitation,seven were more than 16 years of age (50% of all adultmales) while only one was less than or equal to 16years of age (11% of all male children). Six of eightmale patients with a murmur of aortic regurgitationhad aortic root dilatation by ultrasound; however, 11of 15 male patients and four of 12 female patientswithout a murmur of aortic regurgitation had aorticroot enlargement. No consistent correlation betweendegree of aortic root enlargement and presence of anaortic regurgitation murmur could be found.A murmur of mitral regurgitation and/or systolic
clicks were found in 46% of the patients with Marfan'sSyndrome (9 of 23 males and 7 of 12 females). Therewas no significant difference in the incidence of mitralmurmurs and/or clicks in adults and children of thesame sex.The predominant auscultatory abnormalities in
patients with Marfan's Syndrome varied with sex.Five of 23 males had combined aortic and mitralabnormalities while four of 23 had isolated mitral ab-normalities and three of 23 had isolated aorticabnormalities. Females in this series had only mitralabnormalities by auscultation and phonocardiography(7 of 12).A murmur of mitral regurgitation and/or systolic
clicks were found in nine of the ten patients withoutMarfan's Syndrome in whom angiographic andechocardiographic evidence of systolic mitral valveprolapse were found. Mitral clicks and murmurs oc-curred with equal frequency in males and females.
Discussion
Echocardiographic findings in this study indicatethat cardiac abnormalities are far more common than
previously described in Marfan's Syndrome (table 4). in male children and adults (7 of 9 male children, 10Aortic root enlargement and/or mitral valve prolapse of 14 adult males) while aortic regurgitation was farwere demonstrated by echocardiogram in all but one more prevalent in the adult male (1 of 9 malepatient in this series. children, 7 of 14 adult males) as seen in table 3.The incidence of aortic root enlargement is of par- Absence of aortic regurgitation in females may imply
ticular interest. As seen in table 2, while aortic dilata- a lack of appreciable progression of aortic root dilata-tion was not found in any of the nine adults or one tion in the female sex.child without clinical evidence of Marfan's Syndrome No consistent relationship between a murmur ofor other connective tissue disorder, aortic root dilata- aortic regurgitation and the degree of echocar-tion was found in nearly three-fourths of the male diographic aortic root dilatation could be found. Mostpopulation and one-third of the female population patients with aortic regurgitation had aortic rootwith Marfan's Syndrome. It would appear that aortic dilatation; however, many patients without a murmurroot dilation is a sex-linked variable in patients with of aortic regurgitation also had aortic root dilatation.Marfan's Syndrome which is more predominant in This finding points out the pitfall in screening patientsmales. for aortic abnormalities by auscultation.
It also appears that early aortic dilatation in patients Some comment should be made as to the accuracy ofwith Marfan's Syndrome may progress with age in the echocardiographic criteria employed to assess aor-males, as suggested by McKusick,2 eventually leading tic root size. Normal values of echocardiographic aor-to aortic regurgitation in some. This inference is sup- tic root size in adults have been established, yet thereported by an equal incidence of aortic root dilatation is a wide "normal" range which might mask mild
Table 4
Cardiac Abnormalities in Marfan's SyndromeMethod of Year of Cardiac Occular
Investigator suirvey study No. of patients Age range abnormalities abnormalities
enlargement. Further, experience in our laboratory in-dicates that normal values in children are less reliablethan those in adults because of the varying rates ofdevelopment in children of different age groups. As aresult, we utilized three previously establishedechocardiographic criteria for evaluating aortic rootsize in both adults and children (table 1). Mostpatients classified as having aortic root enlargementmet all three of these criteria. There were, however,several patients who were at the outer limits of one ormore of the normal criteria as seen in figure 4. Com-bined use of three sets of normal criteria usuallycategorized such patients as having no aortic rootenlargement. Incidence of aortic root enlargementmay, therefore, be slightly underestimated in thisstudy because of a rigorous attempt to eliminate falsepositives. If for example the normal values were
reduced by only 5%, the incidence of aortic rootdilatation would be 90% rather than 74% in males,and 60%, rather than 33%, in females. Although con-
siderable, these differences do not alter the observa-tion of a higher incidence of aortic root enlargementin males than females. However, they do demonstratethe potential for a generally higher incidence of aorticroot enlargement than estimated in this series. Thewide normal range might also partially explain our in-ability to formulate a degree of aortic root dilatationwhich correlated with the degree of aortic regurgita-tion.
Mitral valve prolapse was found in all of the femalesand nearly all the males with Marfan's Syndrome.This anomaly was the most frequently found cardiacabnormality in this patient group. Nearly all patientswith this anomaly had a "whole systolic" variety ofmitral prolapse. The preponderance of whole systolicprolapse and rare incidence of midsystolic prolapse inthis connective tissue disorder may imply that thisvariety of prolapse results primarily from elongatedmitral leaflets, elongated chordae tendineae or both.The incidence of mitral prolapse was the same inadults and children of the same sex, as was the in-cidence of abnormal mitral sounds. It appears thatmitral prolapse in Marfan's does not worsen to a pointof mitral incompetence with age in most patients.
All patients with Marfan's Syndrome in this studywho had mitral clicks and/or murmurs had a mitralprolapse; however, about one-half of those patientswith mitral prolapse had no abnormal auscultatoryfindings. As in the case of aortic dilatation, it appears
that auscultation is a relatively insensitive way ofassessing mitral valve function in patients with Mar-fan's Syndrome. In contrast, abnormal mitral soundswere noted in most patients with mitral prolapse whohad no evidence of Marfan's Syndrome. This findingmay imply a greater degree of prolapse, a more
general prolapse, -or perhaps a different mechanism ofprolapse, in one of these two patient groups.
Echocardiographic detection of mitral valveprolapse was particularly easy in these patients. Therewere no equivocal or borderline records in this regard.It should be emphasized that transducer placementfor examination of the mitral valve was carefullynoted throughout this study. Only that data obtainedwith the transducer held perpendicular to the chestwall while observing motion of the anterior andposterior mitral leaflets was considered valid.
Auscultatory and phonocardiographic examinationsrevealed a far lower incidence of cardiac abnormalitiesthan did echocardiographic examinations in patientswith Marfan's Syndrome (table 4). The variancebetween auscultatory and echocardiographic findingsis not surprising. It has long been theorized that aorticroot dilatation in patients with Marfan's Syndromeprecedes aortic regurgitation and that such dilatationis difficult to detect by routine chest X-ray in patientswith arachnodactyly. In this regard ultrasound isprobably more sensitive and quantitative in detectionof aortic root enlargement than methods used inprevious noninvasive surveys of patients with Mar-fan's. Further, some cases of mitral valve prolapsewithout abnormal mitral sounds (clicks and/or mur-murs) have also been previously reported.6' 1014 Ourauscultatory findings reveal an incidence ofauscultatory abnormalities which is similar to otherstudies of Marfan's populations. Therefore, wepresume ultrasound is more sensitive than ausculta-tion in the detection of mitral valve abnormalities inthis patient group.
Aortic root dilatation and mitral valve prolapse aresignificant clinical findings in patients with Marfan'sSyndrome. Several investigators have long noted thatthe aortic ring and adjacent intrapericardial portion ofthe aorta are first affected in diffuse aneurysm of theascending aorta in Marfan's.'5 16 Such dilatation hasalso been suggested as a prelude to aortic regurgita-tion in Marfan's." 2 Early echocardiographic detectionof ring dilatation may then be of great clinical impor-tance since these patients frequently developprofound aortic regurgitation with little or no dilata-tion of the ascending aorta shown by X-ray tech-niques., 17 Left uncorrected, most patients developingaortic insufficiency under such circumstances suc-cumb within two years after the onset of significantsymptoms,2 making aortic regurgitation the most fre-quent cause of death in patients with Marfan's.`8 Wesuggest careful and frequent ultrasound examinationof patients (particularly males) who have Marfan's toevaluate changes in aortic root size which may occurin association with aortic regurgitation.
Mitral valve prolapse may also represent a signifi-Circulation, Volume 52, October 1975
cant clinical finding in patients with Marfan's Syn-drome. We were unable to positively discern if thegeneral classification of mitral prolapse worsens withage, although mitral regurgitation was not moreprevalent in adults than children with Marfan's Syn-drome. Some cases of bacterial endocarditis have beenassociated with Marfan's Syndrome.2' 19-21 The highincidence of prolapse in these patients could be thepredisposing factor to endocarditis.
In addition to their clinical importance, the highincidence of cardiac abnormalities in patients withMarfan's Syndrome may provide a new diagnosticparameter for this connective tissue disorder. Thediagnosis of Marfan's Syndrome is often difficult ifskeletal or occular abnormalities are not apparent,even if a strong family history of the disorder is in-dicated. It appears that aortic root enlargementand/or mitral prolapse are at least as prevalent as oc-cular defects in Marfan's Syndrome, making thesedeformities a major, rather than a minor componentof this connective tissue disorder. This study il-lustrates that aortic root dilatation is not a consistentlyassociated finding of mitral valve prolapse in adultpatients without Marfan's Syndrome or otherclinically apparent connective tissue disorders.However, it is possible that aortic root dilatation andmitral prolapse may be present in other connectivetissue disorders or in patients with certain congenitaldefects. Further, isolated mitral prolapse may be pres-ent in a small percentage of the normal patient pop-ulation. However, in most cases we suggest thatechocardiographic demonstration of aortic rootenlargement or mitral prolapse with a welldocumented family history of Marfan's Syndrome isas diagnostic of the disorder or its formes frustes aswould be skeletal or occular abnormalities with asimilar family history. If combined aortic root dilata-tion and mitral prolapse are found with appropriatefamily history, Marfan's is even more stronglysuggested. If the appropriate skeletal or occulardefects are also present, there is little doubt of thediagnosis of Marfan's Syndrome. Echocardiographicrecognition of cardiac abnormalities as a consistentfinding in Marfan's Syndrome may thus greatlyenhance early diagnosis of this disorder or its formesfrustes.
References
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3. RBDos A: Marfan's Syndrome (arachnodactyly coupled withdislocation of the lens). Arch Ophthamol (Chicago) 27: 477,1942
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10. DEMARIA AN, KING JF, HUGo BC, LIES JE, MASON DT: Thevariable spectrum of echocardiographic manifestations ofthe mitral valve prolapse syndrome. Circulation 50: 33, 1974
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13. HUTTER AM, DINSMORE RE, WILLERSON JT, DESANCTIS RW:Early systolic clicks due to mitral valve prolapse. Circulation44: 516, 1971
14. JERESATY RM: The syndrome associated with mid-systolic clicksand/or late systolic murmur: Analysis of 32 cases. Chest 59:643, 1971
15. LUTMAN FC, NEEL JV: Inheritance of arachnodactyly, ectopialentis, and other congenital anomalies (Marfan's Syndrome)in the E family. Arch Ophthamol 41: 276, 1949
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