Abstract
BackgroundInherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas the genetic profile of sporadic DCM in Chinese patients remains unknown.MethodsBetween June 2018 and September 2019, 24 patients diagnosed with idiopathic DCM without a family history were included in the present study. All patients underwent genetic screening for 80 DCM-related genes using targeted next-generation sequencing.ResultsBy in silico analysis, 10 of 99 detected variants were considered pathogenic or likely-pathogenic, including seven TTN truncating variants (TTNtv), one in-frame deletion in TNNT2, one missense mutation in RBM20, and one frameshift deletion variant in FLNC. Of these variants, eight are reported for the first time.ConclusionsUsing targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.
Highlights
Inherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients
The current study aimed to discover the genetic background of sporadic idiopathic DCM in a group of Chinese patients
The diagnostic criteria for idiopathic DCM were consistent with the guidelines described by the American Heart Association (AHA) Scientific Statement and position statement of the The European Society of Cardiology (ESC) working group [3, 6]
Summary
Inherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas the genetic profile of sporadic DCM in Chinese patients remains unknown. Dilated cardiomyopathy (DCM) describes a group of myocardial disorders that lead to ventricular enlargement and compromised contraction. Most previous studies have focused on genetic screening of familial DCM. Based on these studies, familial and/or younger DCM patients are recommended for regular genetic screening at present. The genetic profile of sporadic DCM remains to be clarified. The current study aimed to discover the genetic background of sporadic idiopathic DCM in a group of Chinese patients
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