一个有Myh7突变和不同形式心肌病的家族
Bianca Iulia Catrina1,2, Florina Batar3, Georgiana Baltat4
1Department Basic Science-Physiopathology, Faculty of Medicine, "Lucian Blaga" University, 550169 Sibiu, Romania.
Biomedicines
|July 29, 2023
概括
一个患有MYH7基因突变的家族表现出三种心肌病现型,包括多变性心肌病和扩张性心肌病. 这种突变与突然心脏死亡 (SCD) 的高风险有关,需要植入式心脏转换器-除器 (ICD).
科学领域:
- 心血管遗传学 心血管遗传学
- 分子心脏病学分子心脏病学
背景情况:
- 增高性心肌病 (HCM) 和扩张性心肌病 (DCM) 是普遍存在的心肌疾病.
- 这些疾病往往源于sarcomere蛋白质基因中的遗传突变.
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