LMNA公司
心悸
扩张型心肌病
医学
心肌病
心脏病学
内科学
家族史
基因检测
突变
心力衰竭
遗传学
基因
拉明
精神科
生物
核心
作者
Riddhi Patel,Raj H. Patel,Ekta Patel,Mehul Patel
标识
DOI:10.3389/fcvm.2024.1422151
摘要
A case of a 44-year-old man presenting with a family history of LMNA mutation and cardiac symptoms (dizziness, weakness, palpitations, and shortness of breath) congruent with dilated cardiomyopathy. Genetic testing revealed a novel likely pathogenic mutation of the LMNA gene (c.513G>A, exon 2) not previously associated with dilated cardiomyopathy, and the patient underwent guideline direct treatment for dilated cardiomyopathy. In patients with LMNA mutations, VTA risk should be calculated to determine the need for prophylactic ICD placement.
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