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American Journal of Medical Genetics 42:304-306 (1992) Brief Clinical Report Pulmonary Atresia With Intact Ventricular Septum and Hypoplastic Right Heart in Sibs: A Single Gene Disorder? ~~ David Chitayat, Nathalie McIntosh, and Jean-Claude Fouron Department of Pediatrics, Division of Medical Genetics (D.C., N.M.), The Montreal Childreds Hospital, and The Center for Human Genetics, McGill University (D.C., N.M.); Department of Pediatrics, Division of Cardiology, Universite' de Montre'al and Hbpital Ste. Justine (J.-C.F.), Montreal, Quebec, Canada We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities.Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may,in some cases, be an autosoma1 recessive trait. intact interventricular septum, hypoplastic right heart (HRH), and normal tricuspid valve. To our knowledge, this is the first report of sibs being affected in this manner suggesting autosomal recessive inheritance, although multifactorial inheritance cannot be excluded. CLINICAL REPORTS Patient 1 The proposita, a girl, was the result of the first pregnancy of a 29-year-old, gravida 1 mother of Greek descent, and a 26-year-old father of Italian origin. Both parents were healthy, nonconsanguineous, and their family history did not reveal any relative with CHD. On their physical examination no cardiovascular abnormality was noted. The mother denied having had viral infecKEY WORDS: congenital heart defect, multition or skin rash, exposure to medications, or ingestion of factorial determination, fetal alcoholic beverages, during the pregnancy. Pregnancy was complicated by gestational diabetes detected at 28 echocardiography, hypoplastic right heart, autosomal reweeks of gestation which subsequently responded well to diet modification. cessive inheritance Results of fetal ultrasounds at 3, 5, and 7 months gestation were apparently normal, and fetal movements, first felt at 4% months of gestation, were, in INTRODUCTION retrospect, weak compared to those in the second pregThe prevalence of congenital heart defects (CHD) is nancy. Due to the lack of progression during labour, 4-8/1,000 [Ferencz et al., 19851.Familial occurrences of delivery was by uncomplicated Cesarean section. Apgar almost all forms of CHDs have been reported, and most scores were 7 and 8, at 1and 5 min, respectively. On the are thought to be multifactorially determined. However, first day of life the baby had perioral cyanosis and mild monogenic inheritance with autosomal recessive and respiratory distress and was found to have a HRH with dominant modes of transmission have also been postu- PA. On the second day of life she underwent an operation lated and documented in a few cases (atrial septa1 de- for a central aortopulmonary shunt, during which she fect, idiopathic hypertrophic subaortic stenosis, etc.) had 4 episodes of ventricular fibrillation and died 2 hr [Lynch et al., 1978; Pare et al., 19611. afterward. Autopsy confirmed a hypoplastic right venWe report on 2 sisters with pulmonary atresia (PA), tricle, atresia of the pulmonary valve, with stenosis of the distal main pulmonary artery, and a patent ductus arteriosus (Fig. 1).The right atrium contained a membrane located above the coronary sinus which appeared Received for publication January 22, 1991; revision received to be continuous with the normal eustachian valve and June 3, 1991. Address reprint requests to Dr. D. Chitayat, Division of Medical may have obstructed the flow to the tricuspid valve. No Genetics, The Montreal Children's Hospital, 2300 Tupper St., other abnormalities were detected; chromosomes were normal (46,XX). Montreal, Quebec, H3H 1P3, Canada. 0 1992 Wiley-Liss, Inc. Hypoplastic Right Heart Fig. 1. Cardiac autopsy in patient 1 showing hypoplasia of the right ventricle (RV) with atresia of the pulmonic valve and narrow pulmonary artery (P). The left ventricle (LV) is well developed (L, lung). Patient 2 The couple embarked on a second pregnancy a year after the death of patient 1.The pregnancy was uncomplicated and repeat fetal ultrasounds were apparently normal. However, a fetal echocardiograph a t 22 weeks of gestation showed HRH and PA (Fig. 2). The couple chose to terminate the pregnancy. Autopsy confirmed PA with an intact ventricular septum, HRH, and patent foramen ovale and PA. No other abnormalities were detected. DISCUSSION CHDs are heterogeneous and previous family studies have suggested that 90% are apparent multifactorial traits, 5%are due to a chromosome abnormality, and 3% are due to a single gene disorder [Nora and Meyer, 1966; Nora and Nora, 1983; Nora and Wolf, 19761. However, 305 more recent studies have shown that extracardiac malformations occur in approximately 27% of live-born patients with structural CHD, among them 13%with a chromosome abnormality (including 10.4% with Down syndrome), 4.6% with a recognized syndrome or single gene defect, 1.0%had a suspected syndrome, and 8.3%a nonsyndromal malformation [Ferencz et al., 19891. Right ventricular hypoplasia with a normal tricuspid valve is a rare congenital heart defect that is classified into two types: the most common type with a hypoplastic, muscular right ventricle and stenotic or atretic pulmonary valve (type I), and a more rare type with a thin and flabby right ventricular wall (type 11) [Taussig, 19601.Our patients exhibits type I. Interestingly, one of the cases reported by Taussing [19601 under type I had a membrane in the left auricle that partially obstructed the mitral valve, similar to the membrane in the right auricle of our Patient 1.The significance of this finding is not known. We think that type I is the result of a right ventricular outflow obstruction (severe pulmonary stenosis or atresia) while type I1 is the result of an intrinsic abnormality in the right ventricular wall. When the pulmonary atresialstenosis is associated with an intact ventricular septum, the blood from the right atrium ultimately must cross the atrial septum to the left atrium. The consequent elevation in the right ventricular pressure results in hypertrophy of the right ventricular wall and a decrease in the right ventricular volume. PA with an intact interventricular septum, found in our patients, is a rare malformation first reported by Hunter in 1783 [cited in Gutgesell, 19901.It accounts for only 3-4% of cases of CHD diagnosed in the first year of life [Fyler, 1980; Gutgesell et al., 19821 and has an incidence in livebirths ranging from 1/8,016 [Mitchell et al., 19111 to 1/144,000 [Fyler, 19801. With this heart defect, the right ventricle, as well as the tricuspid valve, are usually smaller than normal [Van Praagh et al., 1976; Zuberbuhler and Anderson, 19791. Van F’raagh et al. [1976]noted marked hypoplasia of the right ventricle Fig. 2. Fetal echocardiography of patient 2 showing hypoplastic right heart. 306 Chitayat et al. in 50%,moderate hypoplasia in 26%,and a normal right ventricle in 10% of their cases. Thus, the hypoplastic right heart is probably a secondary abnormality resulting from the right ventricular outflow obstruction in the presence of the intact interventricular septum, rather than a primary abnormality in the development of the right ventricle. The normal structure of the aortic and tricuspid valves and the complete closure of the ventricular septum show that the obstruction of the pulmonary valve occurs at the 25-mm stage (eighth week of gestation), after the ventricular septum and aorticopulmonary septum have been formed. To our knowledge this is the first report of PA, HRH, intact ventricular septum, and normal tricuspid valve in sibs (a father and son reported with PA, also had VSD and thus do not belong in the same category as our patients [DiChiara et al., 19801). Although multifactorial determination cannot be ruled out, the rarity of the cardiac lesion found in our patients, coupled with the recurrence of the exact lesion in sibs suggests autosomal recessive inheritance. The prognosis of this abnormality is very poor; only 33% of affected infants survive their first birthday [Flyer et al., 19801. Our ability to diagnose this abnormality by fetal echocardiography provides families with an important method for early detection of this severe defect. REFERENCES DiChiara JA, Pieroni DR, Gingell RL, Bannerman RM, Vlad P (1980): Familial pulmonary atresia. Am J Dis Child 134:506-508. Ferencz C, Rubin JD, McCarter W, et al. (1985): Congenital heart disease: prevalence at live birth. Am J Epidemiol 121:31-36. Ferencz C, Neil1 CA, Boughman JA, Rubin JD, Brenner JI, Perry LW (1989): Congenital cardiovascular malformations associated with chromosome abnormalities: A epidemiologic study. J Pediatr 114:79-86. Fyler DC, Buckley LP, Mellenbrand WE, et al. (1980): Report of the New England regional infant cardiac program. Pediatrics 65(suppl): 375-461. Gutgessel H P (1990): Pulmonary valve abnormalities. In: Long WA (ed): “Fetal And Neonatal Cardiology.” Montreal: W.B. Saunders, pp 554-556. Gutgesell HP, Garson A Jr, Hesslein P, Park I, McNarmara DG (1982): Prognosis for the neonate and infant with congenital heart disease. Pediatr Cardiol 2:168A. Lynch HT, Bachenberg K, Harris RE, Becker W (1978): Hereditary atrial septa1 defect: Update of a large kindred. Am J Dis Child 132600-604. Mitchell SC, Korones SB, Berendes HW (1971): Congenital heart disease in 56,109 births: Incidence and natural history. Circulation 43:323-332. Nora JJ, Meyer TC (1966):Familial nature of congenital heart disease. Pediatrics 37:329-334. Nora J J , Nora AH (1983): Genetic epidemiology of congenital heart disease. In: Steinberg AG, Bearn AG, Motulsky AG, Childs B (eds); “Progress in Medical Genetics,” Vol. V. Philadelphia: Saunders, pp 91-138. Nora JJ, Wolf RR (1976): Recurrence risks in the family. In Kidd BSL, Rowe RD (eds): “The Child With Congenital Heart Disease After Surgery.” Mt Kisco, NY: Futura, pp 455-457. Pare JAP, Fraser FG,Pirozynski WJ, Shanks JA, Stubington D (1961): Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. Am J Med 31:37-62. Taussig HB (1960): Defective development of the right ventricle. In “Congenital Malformations of the Heart,” 2nd ed. Cambridge, M A Harvard University Press, pp 119-145. Van Praagh R, Ando M, Van Praagh S, Senno A, Hougen TJ, Novak G, Hastreiter AR (1976): Pulmonary atresia: Anatomic considerations. In Kidd BSL, Rowe RD (eds): “The Child With Congenital Heart Disease After Surgery.” Mt. Kisco, NY: Futura, pp 105-112. Zuberbuhler JR, Anderson RH (1979): Morphological variations in pulmonary atresia with intact ventricular septum. Br Heart J 41:281-288.