Genetics of conotruncal malformations: Further evidence of autosomal recessive inheritance

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  • American Journal of Medical Genetics 50302-303 (1994)

    Letter to the Editor Genetics of Conotruncal Malformations: Further Evidence of Autosomal Recessive Inheritance

    To the Editor: charged from hospital in good condition at the age of one month. Two months later, she died suddenly at home.

    We have lsreviouslv reported on a consanguinous kin- PATIENT 2 (IV-9, FIG. 1) dred with iarious c&o&ncal malformat&ns [Rein et al., 19903. The cardiac defects encountered in this family (Fig. 1) included transposition of great arteries (111-8), double outlet right ventricle (IV-5), and truncus arte- riosus communis (IV-6, IV-7). Since that report, 2 fur- ther sibs of IV-6 and IV-7 have been born. Both of these children had concordant conotruncal malformations.

    PATIENT 1 (IV-8, FIG. 1) This girl was diagnosed by antenatal echocardiogra-

    phy during the second trimester of pregnancy as having truncus arteriosus communis or tetralogy of Fallot with pulmonary atresia and systemic to pulmonary collat- erals (so-called truncus arteriosus type IVj. She was delivered after 41 weeks of gestation with a birth weight of 3,100 g. Postnatal echocardiography and cardiac cath- eterization confirmed the diagnosis of tetralogy of Fallot with pulmonary atresia and multiple collaterals from the aortic arch and descending aorta to the lung fields. She was treated with digitalis and diuretics and dis-


    The fourth female child of this sibship was again diag- nosed antenatally as having a conotruncal malforma- tion. In this case, truncus arteriosus communis type I was evident. As in the previous pregnancies, the parents refused interruption of pregnancy. She was delivered after 40 weeks of gestation with a birthweight of 3,200 g. Postnatal echocardiography confirmed this diagnosis. At the time of writing, she is 3 weeks old and scheduled for corrective surgery.

    Comprehensive cardiac evaluation of 111-5 and 111-6, including echocardiography, showed no evidence of a structural cardiac defect. The firstborn child, IV-6, now 6 years old, is well-developed and asymptomatic. No signs of mental impairment or other anomalies were detected.

    The presence of 2 additional sibs affected with concor- dant conotruncal malformations, born to our previously reported consanguinous kindred, constitutes further support for monogenic inheritance, most probably auto- soma1 recessive, of truncus arteriosus communis, as pos-

    1 I

    I I ID 17


    IV 5 8 9

    Fig. 1. Family pedigree. ID: Infant death.

    Received for publication July 15, 1993; no revisions. Address reprint requests to Azaria J.J.T. Rein, Department of

    Cardiology, Hebrew University-Hadassah Medical School, POB 12000, Jerusalem, il-91120, Israel.

    0 1994 Wiley-Liss, Inc.

  • Letter to the Editor 303

    tulated previously. Moreover, a recent report of 3 fami- lies with sibs with conotruncal malformations [Le Marec et al., 19891, also proposes autosomal recessive inheri- tance of this relatively uncommon cardiac malforma- tion.

    The possibility of autosomal recessive inheritance in families with conotruncal malformations is important for genetic counselling. In addition, in view of the grow- ing number of reported sibships with this spectrum of cardiac defects, molecular genetic evaluation should be considered. Since many cases are either terminated an- tenatally or cause death during the first months of life, blood or tissues samples should be obtained and stored for future evaluation.

    REFERENCES Le Marec B, Odent S, Almange C, Journel H, Roussey M, Defawe G

    (1989): Le truncus arteriosus: une maladie autosomique recessive? J G6nBt hum 37225-230.

    Rein AJJT, Dollberg S, Gale R (1990): Genetics of conotruncal malfor- mations: Review of the literature and report of a consanguinous kindred with various conotruncal malformations. Am J Med Genet 36~353-355.

    Azaria J.J.T. Rein Department of Cardiology

    Ruth Sheffer Department of Medical Genetics Hebrew University-Hadassah Medical School Jerusalem, Israel


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