医学
肺动脉高压
基因检测
内科学
遗传咨询
心脏病学
重症监护医学
疾病
血压
出处
期刊:Methodist DeBakey cardiovascular journal
日期:2021-07-01
卷期号:17 (2): 101-105
摘要
A subgroup of patients diagnosed with pulmonary arterial hypertension (PAH) carry transmissible pathogenic gene mutations. For many of these patients, the heritable nature of their disease can only be uncovered by genetic testing. Because identification of PAH patients who carry pathogenic gene mutations has important implications for other family members, genetic counseling and testing should be offered to patients diagnosed with idiopathic or familial PAH. This review describes the current state of genetic counseling and testing for patients diagnosed with PAH.
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