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December 1989

Cardiac Malformations in Relatives of Infants With Hypoplastic Left-Heart Syndrome

Author Affiliations

From the Division of Pediatric Cardiology, Department of Pediatrics (Dr Brenner) and the Division of Human Genetics, Departments of Obstetrics and Gynecology and Pediatrics (Drs Berg and Boughman), University of Maryland, and the Division of Pediatric Cardiology, Department of Pediatrics (Drs Schneider and Clark), The Johns Hopkins University, Baltimore, Md.

Am J Dis Child. 1989;143(12):1492-1494. doi:10.1001/archpedi.1989.02150240114030

• In a pilot study of relatives of infants with hypoplastic left-heart syndrome (HLHS), we obtained a medical history, cardiovascular examination, and echocardiogram in 48 first-degree relatives of 11 probands with isolated HLHS and 3 with HLHS and noncardiac malformations. Echocardiography confirmed heart defects in 5 of 41 relatives of patients with isolated HLHS. In four instances, the cardiac abnormality was unrecognized. Among 7 relatives of infants with HLHS and extracardiac anomalies, no heart defects were detected. Cardiac defects occurred in first-degree relatives of probands at a frequency higher than previously predicted by an additive multifactorial model of inheritance. These findings suggest that first-degree relatives of HLHS probands may have an increased risk for subclinical cardiac defects and that genetic factors likely contribute to the cause of left-heart blood-flow lesions.

(AJDC. 1989;143:1492-1494)