Journal of Medical Diagnostic Methods
Open Access
ISSN: 2168-9784
ISSN: 2168-9784
Hanoi Medical University, Hanoi, Vietnam
Research Article
A Case Series of Hypertrophic Cardiomyopathy in Vietnam Reveal Novel Pathogenic Variants in Tnnt2 Gene
Author(s): Hung Manh Pham, Van Khanh Tran, Trung Anh Mai, Long Hoang Luong, May Le Pham, Chi Khanh Nguyen, Hoai Thu Thi Nguyen, Minh Nhat Pham, Can Thuy Do, Thanh Tuan Le, Thanh Van Ta and Thinh Huy Tran*
Background: HCM is one of the leading causes of sudden cardiac death in adults, this disease is inherited in an
autosomal dominant manner, however, the genetic etiology of the disease is not fully explained and studies about
hereditary characteristics in family trees are still underway.
Method: Ten HCM patients and 31 of their relatives were recruited for the research. Targeted sequencing for 4 HCM
related-genes including MYH7, MYBPC3, TNNT2 and TNNI3 uses targeted Next-Generation Sequencing (NGS).
Demographic, clinical, electrocardiography and echocardiography characteristics were also characterized.
Results: Among ten HCM patients, five patients were identified with the HCM pathogenic variants in MYH7 (3
patients), MYBPC3 (1 patient), and TNNT2 (1 patient) genes. Eleven out of thirty-one relatives from the.. View More»
DOI:
10.35248/2168-9784.21.10.321