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

Joel I. Brenner, Joann A. Boughman

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1492-1494
Number of pages3
JournalAmerican Journal of Diseases of Children
Issue number12
StatePublished - Dec 1989
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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