Heart 1996;75:98-100

CASE REPORT

Congenital absence of aortic and pulmonary valvein a fetus with severe heart failure

Jan Marek, Jan Skovranek, Viera Povysilova

Kardiocentrum,University HospitalMotol, Prague, CzechRepublicJ MarekJ SkovrinekDepartment ofPathology, SecondMedical School,Charles University,Prague, CzechRepublicV PovyilovaCorrespondence to:Dr J Marek, Kardiocentrum,University Hospital Motol,150 18 Prague, CzechRepublic.Accepted for publication18 July 1995

AbstractA case of congenital absence of bothaortic and pulmonary valves with severeheart failure detected prenatally by cross-sectional and pulsed and colour Dopplerechocardiography is reported in small forgestational age male fetus in 17th week ofgestation. Additional double outlet rightventricle, hypoplastic left ventricle, andventricular septal defect, as well as multi-ple extracardiac anomalies, were foundby prenatal echocardiographic investi-gation and confirmed by necropsy exami-nation. Retrograde diastolic Dopplerwaveforms retrieved from pulmonaryartery, aorta, and umbilical arteriesrevealed massive insufficiency through-out both the great arteries, which elimi-nated diastolic placental perfusion,documented by absent anterograde dias-tolic flow in the umbilical vein. Theseprenatal echocardiographic findings maycontribute to an understanding of themechanism of rapid and progressiveheart failure and growth retardation inthe fetus. Severe cardiac failure mayexplain why congenital aplasia ofboth theaortic and the pulmonary valves has notbeen described postnatally, and only two

fetal cases revealed by necropsy have beenpublished.

(Heart 1996;75:98-100)

Keywords: absent aortic valve; absent pulmonary valve;fetal echocardiography; heart failure

Congenital absence of both semilunar valves inseparated great arteries is an exceedingly rareheart malformation. The only reported exam-ples are described by Hartwig et al,I who foundcongenital absence of semilunar valve leafletsin complex congenital heart defects in two fetalnecropsy examinations. Here we describe acase of severe heart failure in a fetus withabsence of both aortic and pulmonary valves,revealed by fetal echocardiographic examina-tion in the 18th week of gestation.

Case reportA 33 year-old healthy gravida 2, para 1 wasreferred for detailed fetal cardiovascular evalu-ation at week 17 + 4 of gestation for a smallfor gestational age fetus with hydrocephaly,hydrothorax, ascites, and heart malformation,suspected from cardiomegaly and abnormal

Figure 1 Cross sectional echocardiography showing the origin of the aorta (AO) from theright ventricle (RV). Ventricular septal defect (arrow) was seen close to the aorta (A).Pulmonary artery (PA) also originates from the right ventricle (B) and no semilunarleaflets were visualised. A pericardial effusion (PE) behind the right ventricle was evident.

Dopplerflow patterns retrievedfrom the ascending aorta(A) and main pulmonary artery (B) show the systolicantegrade (s) and diastolic retrograde (D) flows.Simultaneous Dopplerfrom the umbilical artery and vein(C) indicates reverse diastolic arterial waveform (arrows).Absent prograde diastolicflow in umbilical vein(D) (arrows) is better documented separately.

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Congenital absence of aortic and pulmonary valve in a fetus with severe heart failure

Figure 3 Double outlet right ventricle with d-malposed side by side great arteries atnecropsy.

four chamber view on routine ultrasoundexamination.

Cross sectional echocardiography andpulsed Doppler/colour flow mapping examina-tion was performed using 5 0 MHz annulararray and 3-5 MHz phased array transducers(Ultramark 9, ATL). The investigationrevealed hydrops, pericardial effusion, cardio-megaly (cardiothoracic index 0 90), and com-

plex congenital heart malformation: situssolitus viscera and atria, atrioventricularconcordance with small left atrium (non-

Figure 4 Aorta (ao)viewed through rightventricular (rv) approach.Shallow ventriculo-aorticendothelialjunction withno evidence ofsemilunarleaflets (arrow). Coronaryostia in normal position(asterisk).

Figure 5 Pulmonaryartery (pa) originates fromthe right ventricle (rv)with several attachments ofdysplastic tricuspid valve(tv). Only a smallendothelial narrowing withaplasia ofsemilunarleaflets was seen at theventriculo-pulmonaryjunction (arrow).

restrictive foramen ovale), hypoplastic mitralorifice (mitral/tricuspid ratio 0 65), and smallleft ventricle (dimension 65% of normalvalue). Double outlet right ventricle with d-malposition, side by side great arteries, and alarge subaortic ventricular septal defect wereobserved (fig 1). Moderate tricuspid regurgita-tion was detected by colour flow mapping.The great arteries were normal in size. No

evidence of semilunar valves was found ineither the aorta or the pulmonary artery.Colour flow mapping and pulsed Dopplerrevealed antegrade systolic and retrogradediastolic flow patterns in the great arteries(fig 2). The estimated regurgitation fractionwas close to 100%. Reverse diastolic flow wasalso detected in the umbilical arteries.Umbilical vein Doppler sampling showedabsent diastolic flow (fig 2).The family was counselled and pregnancy

was terminated by prostaglandin infusion.Necropsy examination revealed a 45 g malefetus (expected weight at 18 weeks amenor-rhea is 120 g). Total length was 15 cm andcrown-rump length 10 cm. Macroscopicobservation confirmed the presence of a com-plex heart anomaly, with double outlet rightventricle, hypoplastic left atrium, mitral orificeand left ventricle, and d-malposed side by sidegreat arteries (fig 3). The ventricular septaldefect was classified as large remote with closeattachment of a dysplastic tricuspid valve.Foramen ovale was widely opened and theductus arteriosus was found to be patent.The ventriculo-aortic and ventriculo-pul-

monary endothelial junction formed flatridges, apparently without functional organisa-tion (fig 4, 5). The coronary ostia and arterieswere normal. Besides this, multiple additionalextracardiac anomalies were found: hydranen-cephaly (hemispheric brain aplasia), hypoplas-tic left forearm with absence of the left hand,right sided radial aplasia (clubhand), and lowset ears.

DiscussionThere are many published reports on congeni-tal absence of the pulmonary valve. The pre-natal diagnosis of this anomaly is rare, butfeasible.23 Congenital absence of the pul-monary valve probably does not have a signifi-cant impact on fetal cardiovascular circulationand fetal development; however, prenataldiagnosis allows early counselling and plan-ning of prompt care after delivery.

Congenital absence of the aortic valve is anextremely rare heart malformation. Only sevencases have been reported so far.45 The absentaortic valve is associated with other structuralheart malformations in all instances. In all butone patient the diagnosis was made postna-tally. Bierman and colleagues described theantenatal and postnatal echocardiographic fea-tures of congenital absence of the aortic valve.They also found retrograde diastolic wave-forms in the thoracic aorta, but they did notperform Doppler examination of the umbilicalvessels. All seven patients in their report diedof heart failure without surgical intervention.

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Marek, Skovranek, Povyfilovd

Published cases of absent aortic andpulmonary valve

Age ofgestation

Case (amenorrhoeal Additionalno Detected at biometry /weeks]) Sex heart malformation Extracardiac anomaly

1* Fetal necropsy 18/13 M DORV, MA, HLV, Hypoplastic nose, bilateral radiald-MGA, VSD subAo, aplasia, bilateral absence of theSTRD-TV thumb, absence of the left index

finger, malrotation of the intestines,horseshoe kidney

2* Fetal necropsy 18/12 M HLV, VSD subAo Cleft lip and palate on the right,low set ears, incomplete fusionat the scrotal swellings

3t Fetal 17/15 M DORV, HLV Hydranencephaly (hemispheric brainechocardiography d-MGA, VSD remote, aplasia), hypoplastic left forearm with

dysplastic TV absence of the left hand, rightsidedradial aplasia (clubhand), low set ears

d-MGA, d-malposition of the great arteries; DORV, double outlet right ventricle; HLV, hypoplastic left ventricle; M, male; MA,mitral atresia; STRD-TV, straddling of the tricuspid valve; TV, tricuspid valve; VSD subAo, subaortic ventricular septal defect.*Harnvig et altThis publication.

The only report of congenital absence ofboth the aortic and the pulmonary valve wasby Hartwig and associates,' from a necropsyexamination of two fetuses which died in uterobefore the 18th week of pregnancy. Both weresmall for gestational age and had complexcongenital defects and additional extracardiacmalformations (table).The authors assumed that both the fetuses

died of cardiac failure. Our fetal findings con-firm this suggestion. Doppler flow patternsretrieved from the aorta, pulmonary artery,and umbilical vessels showed gross regurgita-tion throughout both great arteries whicheliminated diastolic placental perfusion andresulted in severe heart failure and fetal growthretardation. Severe cardiac failure causingearly fetal death may explain why congenitalaplasia of both the aortic and the pulmonaryvalve is not described postnatally.

In the absence of an aortic valve the regurgi-tation volume is obviously smaller and there-fore does not cause early fetal heart failure,although in the only published case of fetallydiagnosed aplasia of the aortic valve asciteswas noted. In cases with absence of the pul-monary valve, a hypoplastic annulus or rightventricular outflow tract, together with ven-tricular hypertrophy, will usually reduce retro-grade diastolic blood volume. In absentpulmonary valve with arterial duct agenesis6

retrograde aortic run-off is not possible.The pathogenesis of the absence of both

semilunar valves is unknown. All three casesdescribed were male, as were a further sevenreported cases of absent aortic valve. One canspeculate that X linked recessive inheritanceor other X linked factors may play a role in themaldevelopment of the endocardial cushiontissue at the ventriculo-aortic junction.Unfortunately, none of these 10 cases under-went chromosomal evaluation.Note added in proofi During the preparation of this paper,we found a report of two other fetuses with absent aortic andpulmonary valve: Miyabara S, et al. Heart Vessels 1994;9:49-55.

Supported by grant No 2038-3 from Czech Ministry ofHealth. The authors are grateful to Mr Vlastimil Stirek forphotographs.

1 Hartwig NG, Vermeij-Keers Ch, De Vries HE,Gittenberger-De Groot AC. Aplasia of semilunar valveleaflets: two case reports and developmental aspects.Pediatr Cardiol 1991;12:114-7.

2 Fouron J-C, Sahn DJ, Bender R, Block R, Schneider H,Fromberger P, et al. Prenatal diagnosis and circulatorycharacteristics in tetralogy of Fallot with absent pul-monary valve. Am J Cardiol 1989;64:547-9.

3 Rein AJJT, Singer R, Simcha A. Prenatal diagnosis oftetralogy of Fallot with absence of the leaflets of the pul-monic valve. IntJ Cardiol 1992;34:211-3.

4 Bierman FZ, Yeh M-N, Swersky S, Martin E, Wigger JH,Fox H. Absence of the aortic valve: Antenatal and post-natal two-dimensional and Doppler echocardiographicfeatures.JAm Coi Cardiol 1984;3:833-7.

5 Uin AE, Chin AJ. Absent aortic valve: complex anomaly.Pediatr Cardiol 1990;11:195-8.

6 Emmanouilides GC, Thanapoulos B, Siassi B, Fishbein M."Agenesis" of ductus arteriosus associated with the syn-drome of tetralogy of Fallot and absent pulmonary valve.Am I Cardiol 1976;37:403-9.

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