Abstract:
:Background Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused by mutations within the dystrophin gene. DMD is characterized by progressive skeletal muscle degeneration and atrophy and progressive cardiomyopathy. It has been observed the severity of cardiomyopathy varies in patients with DMD. Methods and Results A cohort of male patients with DMD and female DMD carriers underwent whole exome sequencing. Potential risk factor variants were identified according to their functional annotations and frequencies. Cardiac function of 15 male patients with DMD was assessed by cardiac magnetic resonance imaging, and various cardiac magnetic resonance imaging parameters and circulating biomarkers were compared between genotype groups. Five subjects carrying potential risk factor variants in the cystic fibrosis transmembrane regulator gene demonstrated lower left ventricular ejection fraction, larger left ventricular end-diastolic volume, and higher NT-proBNP (N-terminal pro-B-type natriuretic peptide) levels compared with 10 subjects who did not carry the potential risk factor variants (P=0.023, 0.019 and 0.028, respectively). Conclusions This study revealed heterozygous cystic fibrosis transmembrane regulator gene missense variants were associated with worse cardiac function in patients with DMD. The cystic fibrosis transmembrane regulator gene may serve as a genetic modifier that accounts for more severe cardiomyopathy in patients with DMD, who would require more aggressive management of the cardiomyopathy.
journal_name
J Am Heart Assocjournal_title
Journal of the American Heart Associationauthors
Jiang X,Shao Y,Araj FG,Amin AA,Greenberg BM,Drazner MH,Xing C,Mammen PPAdoi
10.1161/JAHA.120.016799subject
Has Abstractpub_date
2020-10-20 00:00:00pages
e016799issue
19issn
2047-9980journal_volume
9pub_type
杂志文章abstract::Background Recent studies have raised concerns about the reduced efficacy of citalopram when used concurrently with proton pump inhibitors. The aim of this study was to evaluate the associations between clinical use of citalopram and omeprazole and the risk of sudden cardiac arrest (SCA) in an Asian population. Method...
journal_title:Journal of the American Heart Association
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更新日期:2016-06-13 00:00:00
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更新日期:2020-01-07 00:00:00
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pub_type: 杂志文章
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