Open AccessA Case Series of Hypertrophic Cardiomyopathy Conducted in Vietnam Revealing a Novel Pathogenic Variant of the TNNT2 Gene
Author(s) -
Hung Manh Pham,
Van Khanh Tran,
Trung Anh,
Long Hoang Luong,
May Le Pham,
C. Nguyen,
Hien Thi Thu Nguyen,
M. Nhat Pham,
Can Thuy,
Thanh Tuan Le,
Thanh Van Ta,
Thinh Huy Tran
Publication year - 2022
Publication title -
the open cardiovascular medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.302
H-Index - 25
ISSN - 1874-1924
DOI - 10.2174/18741924-v16-e2202280
Subject(s) - myh7 , hypertrophic cardiomyopathy , medicine , sudden cardiac death , genetic testing , sudden death , cardiology , genotype , cardiomyopathy , genetics , gene , heart failure , biology , gene isoform
Background: Hypertrophic Cardiomyopathy (HCM) is one of the leading causes of sudden cardiac death in adults.HCM is inherited in an autosomal dominant manner; however, the genetic etiology of the disease is not fully explained and studies on the hereditary characteristics in family trees are still underway. Methods: Ten HCM patients and 31 of their relatives were recruited. Targeted sequencing for 4 HCM related-genes, including MYH7 , MYBPC3 , TNNT2, and TNNI3, using targeted next-generation sequencing (NGS) was carried out. Demographic, clinical, electrocardiography, and echocardiography characteristics were also characterized. Results: Among the 10 HCM patients, 5 were identified with the HCM pathogenic variants in MYH7 (3 patients), MYBPC3 (1 patient), and TNNT2 (1 patient) genes. Eleven out of 31 relatives from these 5 genotype-positive patients carried the same pathogenic variants. We found the novel c.822-2 A>G variant in the splicing site of the TNNT2 gene responsible for HCM disease in a family with 7 subjects genotype positive and 3 others who suffered from sudden cardiac death. Conclusion: This case series highlighted the importance of genetic testing for clinically confirmed HCM patients and family members. The genetic information can be used as a molecular marker to complement the clinical presentation in the diagnosis of HCM, as well as a prognostic tool for the patients and their family members.