RESEARCH ARTICLE


A Case Series of Hypertrophic Cardiomyopathy Conducted in Vietnam Revealing a Novel Pathogenic Variant of the TNNT2 Gene



Hung Manh Pham1, 2, #, Van Khanh Tran1, #, Trung Anh Mai2, Long Hoang Luong1, 3, May Le Pham4, 5, Chi Khanh Nguyen4, 6, Hoai Thu Thi Nguyen2, Minh Nhat Pham2, Can Thuy, Do2, Thanh Tuan Le2, Thanh Van Ta1, Thinh Huy Tran1, *
1 Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam
2 Department of Cardiology, Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam
3 Department of Biology, Hanoi-Amsterdam High School for the Gifted, Hanoi, Vietnam
4 Vietnam National University, VNU University of Medicine and Pharmacy, Hanoi, Vietnam
5 Department of of Health Sciences, Vin University, Hanoi, Vietnam
6 Department of Allergy & Clinical Immunology, E Hospital, Hanoi, Vietnam


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Creative Commons License
© 2022 Pham et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Center for Gene and Protein Research, Hanoi Medical University, 1st Ton That Tung Street, Hanoi 10000, Vietnam; Tel: + 84 38523798/ 244; Fax: + 84 4 38525115; E-mail: tranhuythinh@hmu.edu.vn
#These authors contributed equally to this work


Abstract

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.

Keywords: Hypertrophic cardiomyopathy, Vietnamese, MYH7, MYBPC3, TNNT2, TNNI3, Genetic testing, Novel pathogenic variant.