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

مقالات آماده انتشار

نوع مقاله : مقاله پژوهشی

نویسندگان

Leila Emrahi
babak zanjani
asiyeh jebelli
Mehrnoush Toufan Tabrizi
10.22034/nbr.2026.132131.0
چکیده
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. 

کلیدواژه‌ها

Echocardiography
Hypertrophic cardiomyopathy
Aneurysm
TNNT2 gene
whole-exome sequencing
موضوعات
یافته های نوین در علوم زیستی

مقالات آماده انتشار، پذیرفته شده
انتشار آنلاین از 08 مهر 1405

  • تاریخ دریافت 14 آبان 1404
  • تاریخ بازنگری 30 شهریور 1405
  • تاریخ پذیرش 08 مهر 1405
  • تاریخ انتشار 08 مهر 1405

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