Журнал медицинских методов диагностики
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A Case Series of Hypertrophic Cardiomyopathy in Vietnam Reveal Novel Pathogenic Variants in Tnnt2 Gene

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, 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 these five genotype-positive patients carried the same pathogenic variants. Interestingly, we found the novel c.822-2 A>G variant in the VUS splicing receptor zone of the TNNT2 gene responsible for HCM disease in a family with 7 subjects were genotype-positive, and 3 others suffered from sudden cardiac death.

Conclusions: This case series highlighted the importance of genetic testing for clinically confirmed HCM patients and family members. The genetic information can either be used as a molecular marker to complement clinical presentation in the diagnosis of HCM or a prognosis tool for patients and their family members.