Nova Biologica Reperta

Left ventricle apical aneurysm and clinical heterogeneity in a family affected by Hypertrophic cardiomyopathy with TNNT2 gene variant

Articles in Press

Document Type : Original Article

Authors

Leila Emrahi 1
babak zanjani 2
asiyeh jebelli 3
Mehrnoush Toufan Tabrizi 2

1 Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares ‎University Tehran, Iran

2 Cardiovascular Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

3 Department of Cell and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran

10.22034/nbr.2026.132131.0
Abstract
Introduction: Hypertrophic cardiomyopathy (HCM) is defined as the most common genetic myocardial disease with significant genotypic and phenotypic heterogeneity. A dozen of sarcomeric and non-sarcomeric genes have been reported associated with HCM. In this study, we present a family with Hypertrophic cardiomyopathy with the same genotype and different phenotypes in affected members.

Methods: Physical examination and echocardiography followed by Whole-exome sequencing (WES) and co-segregation analysis were performed in the family and first relatives.

Results: Genetic analysis of the proband using WES identified the p.R286H variant in the TNNT2 gene and co-segregation analysis revealed the proband’s sister and son carrying the variant. The proband had a reverse curvature type of HCM in echocardiography evaluation and her sister was affected by the apical type of HCM with aneurysm formation and small thrombus inside confirmed by CMR. Proband’s son had no evidence of disease in the Imaging study and will be under follow-up.

Conclusions: Genetic testing can be an efficient risk indicator for proband relatives and those who carry the detected mutation, further imaging evaluation should be considered. As our results showed, genetic counseling, genetic testing, and multimodality imaging are crucial in the screening and also management of a family affected by HCM. 

Keywords

Echocardiography
Hypertrophic cardiomyopathy
Aneurysm
TNNT2 gene
whole-exome sequencing
Subjects
Nova Biologica Reperta

Articles in Press, Accepted Manuscript
Available Online from 30 September 2026

  • Receive Date 05 November 2025
  • Revise Date 21 September 2026
  • Accept Date 30 September 2026
  • Publish Date 30 September 2026

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