Genetic Disease Study

ISSN: 2529-7643 (Online)

Journal Abbreviation: Genet Dis Stud

Publication Frequency: irregular

Article Processing Charges (APC): Click here for more details

Publishing Model: Open Access

About the Journal

Genetic Disease Research is an international open access journal that publishes original research papers and reviews articles related to all areas of genetic disease .





Whioce Publishing Pte Ltd  and the Editor-in-chief invite all authors  to submit their  manuscripts to  our  newly launched  journal, Genetic Disease Study, for peer review.

Posted: 2018-09-11

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. This study aimed to reveal the clinical and genetic backgrounds of the unique HCM with mid-ventricular obstruction (HCM-MVO) subtype. We identified 34 patients with HCM-MVO in our cohort, and about half (47%) of these patients experienced adverse events. We analyzed 67 cardiomyopathy-associated genes in the patients. In total, 44% of patients with HCM-MVO carried the cardiomyopathy-associated genetic variant (CAGV) in 14 genes. Only 21% of patients carried HCM-associated CAGVs in major sarcomere-encoding genes, while 18% of patients carried CAGVs in dilated cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy-associated genes. CAGVs were more frequent in patients with asymmetric septal hypertrophy (ASH) than in those without ASH. These findings suggest that HCM-MVO is a high-risk group and may have different etiologies from typical HCM.  
Posted: 2018-09-11
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