单位：[1]Research Ward, Beijing Friendship Hospital, Capital Medical University, Beijing, China临床科室研究型病房研究型病房首都医科大学附属北京友谊医院[2]Department of Geriatrics, Beijing Friendship Hospital, Capital Medical University, Beijing, China临床科室老年科老年科首都医科大学附属北京友谊医院[3]Department of Cardiology, Cardiovascular Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China临床科室心血管中心心内科首都医科大学附属北京友谊医院[4]Beijing Key Laboratory of Metabolic Disorder Related Cardiovascular Disease, Capital Medical University, Beijing, China
Familial dilated cardiomyopathy (FDCM) is characterized by high genetic heterogeneity and an increased risk of heart failure or sudden cardiac death in adults. We report the case of a 62-year-old man with a 2-month history of shortness of breath during activity, without paroxysmal nocturnal dyspnea. The patient underwent a series of examinations including transthoracic echocardiography, coronary arteriography, transesophageal echocardiography, and myocardial perfusion imaging. After excluding secondary cardiac enlargement, he was diagnosed with dilated cardiomyopathy (DCM). His sister had also been diagnosed with DCM several years before. Genetic sequencing analysis revealed that the patient, his sister, and his son all had the same mutation in the desmin gene (DES) (chr2-220785662, c.1010C>T). Genetic testing confirmed a heterozygous DES mutation contributing to FDCM. In this case, the etiology of the patient's whole-heart enlargement was determined as FDCM with DES gene mutation. This is the first report to describe DES c.1010C>T as a cause of FDCM.
基金：
Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding [ZYLX201838]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2020]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
最新[2025]版：
大类|4 区医学
小类|4 区医学：研究与实验4 区药学
JCR分区：
出版当年[2019]版：
Q4MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
最新[2023]版：
Q4MEDICINE, RESEARCH & EXPERIMENTALQ4PHARMACOLOGY & PHARMACY
第一作者单位：[1]Research Ward, Beijing Friendship Hospital, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[2]Department of Geriatrics, Beijing Friendship Hospital, Capital Medical University, Beijing, China[3]Department of Cardiology, Cardiovascular Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China[4]Beijing Key Laboratory of Metabolic Disorder Related Cardiovascular Disease, Capital Medical University, Beijing, China[*1]Department of Geriatrics, Beijing Friendship Hospital, Capital Medical University, No. 95, Yong’an Road, Xicheng District, Beijing 100050, China.
推荐引用方式(GB/T 7714)：
Huang Ying-shuo,Xing Yun-li,Li Hong-wei.Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy[J].JOURNAL of INTERNATIONAL MEDICAL RESEARCH.2021,49(4):doi:10.1177/03000605211006598.
APA：
Huang, Ying-shuo,Xing, Yun-li&Li, Hong-wei.(2021).Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.JOURNAL of INTERNATIONAL MEDICAL RESEARCH,49,(4)
MLA：
Huang, Ying-shuo,et al."Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy".JOURNAL of INTERNATIONAL MEDICAL RESEARCH 49..4(2021)
