Brenner J I, Berg K A, Schneider D S, Clark E B, Boughman J A
Department of Pediatrics, University of Maryland, Baltimore.
Am J Dis Child. 1989 Dec;143(12):1492-4. 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.
在一项针对左心发育不全综合征（HLHS）患儿亲属的初步研究中，我们对11例单纯HLHS先证者和3例伴有HLHS及非心脏畸形的先证者的48名一级亲属进行了病史采集、心血管检查和超声心动图检查。超声心动图证实，在41例单纯HLHS患者的亲属中，有5例存在心脏缺陷。有4例心脏异常未被识别。在7例患有HLHS及心外异常的婴儿亲属中，未检测到心脏缺陷。先证者的一级亲属中出现心脏缺陷的频率高于此前通过加性多因素遗传模型预测的频率。这些发现表明，HLHS先证者的一级亲属可能患亚临床心脏缺陷的风险增加，而且遗传因素可能是左心血流病变的病因之一。
