Cardiac malformations in relatives of infants with hypoplastic left-heart syndrome
J. I. Brenner, K. A. Berg, D. S. Schneider, E. B. Clark and J. A. Boughman
Department of Pediatrics, University of Maryland, Baltimore.
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.
