Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant

• DOI: 10.3389/fgene.2022.743472
• Publication Date: 2022-02-22T04:42:06Z
• Authors: Sofiya Andreeva; Olga Chumakova; Elena Karelkina; Viktoriya Lebedeva; Tamara Lubimtseva; Andrey Semenov; Alexey Nikitin; Gleb Speshilov; Alexandra Kozyreva; Polina Sokolnikova; Sergey Zhuk; Yuliya Fomicheva; Olga Moiseeva; Anna Kostareva
• Keywords: Compound heterozygosity

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it associated with fatal complications. The clinical heterogeneity HCM requires risk prediction models to identify patients at a high adverse events. Most cases are caused by mutations in genes encoding sarcomere proteins. However, rare genetic variants limited data about its course prognosis, existing not validated for such patients' cohorts. TRIM63 recently described as cause autosomal-recessive inheritance. Herein, we present two TRIM63-compound heterozygous young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, significant degree fibrosis detected magnetic resonance imaging, clear indications implantable cardioverter-defibrillator. One includes first description TRIM63-HCM extreme hypertrophy. presented discussed light molecular consequences that might underlie cardiac muscle phenotype TRIM63, master regulator striated mass.