两名姐妹中的PPA2缺乏症：心源性猝死的罕见原因
PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.
作者信息
Genthe Will, Donnelly Colleen, Ezon David, Fettig Veronica, Ganesh Jaya, Marin-Valecia Isaac, Gelb Bruce D
机构信息
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Department of Pediatric Cardiology, Icahn School of Medicine at Mount Sinai, Children's Heart Center, Mount Sinai Hospital, New York, New York, USA.
出版信息
JACC Case Rep. 2023 Sep 20;24:102024. doi: 10.1016/j.jaccas.2023.102024. eCollection 2023 Oct 18.
Inorganic pyrophosphatase 2 (PPA2) deficiency is a genetic cause of sudden cardiac death, often triggered by viral infection or alcohol consumption. Literature on management is limited because most cases are diagnosed post mortem. We report lethal and nonlethal cardiac presentations of PPA2 deficiency in 2 adolescent sisters that resulted from a novel pathogenic variant. ().
无机焦磷酸酶2（PPA2）缺乏是心源性猝死的一个遗传原因，常由病毒感染或饮酒引发。由于大多数病例是在尸检后才得以诊断，关于其治疗的文献有限。我们报告了2名青春期姐妹因一种新的致病变异而出现的PPA2缺乏致死性和非致死性心脏表现。（）
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