Donofrio M T, Allen D R, Tekin M, Bodurtha J
Department of Pediatrics, Division of Pediatric Cardiology, The Medical College of Virginia Hospitals of the Virginia Commonwealth University, Richmond 23298, USA.
Pediatr Cardiol. 2002 Jan-Feb;23(1):27-31. doi: 10.1007/s00246-001-0007-1. Epub 2002 Feb 19.
We describe an inherited form of a disorder in which four patients spanning three generations were affected with congenital myocardial disease. The youngest member of the family, diagnosed as a fetus with a large aneurysm of the muscular interventricular septum, demonstrates an antenatal pathogenic process. Study of the specific findings in each patient suggests that congenital aneurysms of the muscular interventricular septum may be in some way associated with specific developmental pathways of the heart. We believe that screening family members of patients with muscular interventricular septal aneurysms may be indicated to assess for silent myocardial disease.
我们描述了一种遗传性疾病，其中三代人中的四名患者患有先天性心肌病。该家族中最年轻的成员在胎儿期被诊断为肌性室间隔大动脉瘤，显示出产前致病过程。对每位患者具体表现的研究表明，肌性室间隔先天性动脉瘤可能在某种程度上与心脏的特定发育途径有关。我们认为，对患有肌性室间隔动脉瘤患者的家庭成员进行筛查，可能有助于评估隐匿性心肌病。
