Lee Daniel D, Veith Regan L, Dimmock David P, Samyn Margaret M
Medical College of Wisconsin, Milwaukee, WI, USA,
Pediatr Cardiol. 2014 Dec;35(8):1474-7. doi: 10.1007/s00246-014-1002-7. Epub 2014 Sep 3.
This is a case series of a family positive for a previously undescribed mutation in the myofilament gene MYH7, causing hypertrophic cardiomyopathy (HCM), a potentially lethal cardiac disease with strong hereditability. The family's significant disease became strikingly apparent with the unanticipated diagnosis of their newborn infant shortly after her birth. This led to the discovery of the MYH7 mutation in the infant, as well as her father and two siblings, all of whom had varying degrees of disease severity. Despite prior diagnosis of HCM for the paternal grandmother and great uncles, this family's situation points to the need for continued education of healthcare providers, when heritable diseases are encountered. Genetics consult should occur early and has been shown to be helpful in making an accurate diagnosis and identifying relatives at risk of developing the condition. It may, as in this case series, lead to the discovery of a novel mutation and contribute to the growing genetic database for familial HCM.
这是一个病例系列，该家族的肌丝基因MYH7存在一种先前未描述的突变，导致肥厚型心肌病（HCM），这是一种具有很强遗传性的潜在致命性心脏疾病。在新生儿出生后不久意外诊断出患有严重疾病后，这个家族的重大疾病变得极为明显。这导致在婴儿及其父亲和两个兄弟姐妹中发现了MYH7突变，他们都有不同程度的疾病严重程度。尽管之前已诊断出孩子的祖母和叔祖父患有HCM，但这个家族的情况表明，当遇到遗传性疾病时，医疗保健提供者仍需要持续接受教育。遗传学咨询应尽早进行，并且已证明有助于做出准确诊断并识别有患病风险的亲属。就像这个病例系列一样，它可能会导致发现一种新的突变，并为不断增长的家族性HCM基因数据库做出贡献。
