Journal of Medical Diagnostic Methods
Open Access
ISSN: 2168-9784
ISSN: 2168-9784
Hanoi-Amsterdam High School for the Gifted, Hanoi, Vietnam
Research Article
A Case Series of Hypertrophic Cardiomyopathy in Vietnam Reveal Novel Pathogenic Variants in Tnnt2 Gene
Author(s): Hung Manh Pham, Thanh Van Ta, Thanh Tuan Le, Can Thuy Do, Minh Nhat Pham, Hoai Thu Thi Nguyen, Chi Khanh Nguyen, May Le Pham, Long Hoang Luong, Trung Anh Mai, Van Khanh Tran 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