TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

• DOI: 10.1016/j.ymgmr.2021.100743
• Publication Date: 2021-03-19T09:03:12Z
• Authors: Francesco Cava; Ernesto Cristiano; Maria Beatrice Mu...; Camilla Savio; Aldo Germani; Maria Lo Monaco; Simona Petrucci; Maria Rosaria Tor...; Camillo Autore; Speranza Rubattu; Maria Piane
• Keywords: Proband

QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of interval increase remain unclear. The main contribution to HCM attributed myocardial hypertrophy and related structural damage. In a 24-year-old male proband, affected by long QTc, we identified Next Generation Sequencing pathogenic variant gene TNNI3 co-inherited damaging KCNQ1 gene. This evidence suggests possibility that its dispersion could be associated not only severity left ventricular but also co-inheritance variants both QT Syndrome (LQTS) HCM. Although simultaneous presence genes different heart diseases extremely rare, counseling genetic testing appear crucial for clinical diagnosis. Screening LQTS should considered clarify origin provide more information about presentation evaluate incidence co-existence LQTS/HCM occur frequently than so far reported.