Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA.
Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark.
Cardiol Young. 2022 Aug;32(8):1333-1337. doi: 10.1017/S1047951121004923. Epub 2022 Jan 12.
A maternally inherited novel pathogenic gene variant c.767G>T, p.R256I [NM_001145408], manifested in a male infant as dilated cardiomyopathy with severe left ventricular dysfunction and dilation, biventricular non-compaction, tricuspid hypoplasia, and hydrocephaly. To the best of our knowledge, no previous variants with biventricular non-compaction have been associated with tricuspid valve hypoplasia. Hence, this case introduces a new pathogenic variant observed in the and adds to the range of cardiac phenotypes identified in variants.
一个母系遗传的新型致病性基因变异 c.767G>T，p.R256I [NM_001145408]，在一名男性婴儿中表现为扩张型心肌病，伴有严重的左心室功能障碍和扩张、双心室非致密化、三尖瓣发育不良和脑积水。据我们所知，以前没有与三尖瓣发育不良相关的双心室非致密化变异。因此，本病例介绍了一个在 中观察到的新的致病性变异，并增加了在 变异中确定的心脏表型范围。
