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370 The CO-existence of KCNQ1 and TNNI3 genes mutations supports the genetic origin of QTC abnormalities in hypertrophic cardiomyopathy

Authors :
Maria Rita Lo Monaco
Francesco Cava
Simona Petrucci
Maria Piane
Camilla Savio
Maria Beatrice Musumeci
Speranza Rubattu
Ernesto Cristiano
Camillo Autore
Source :
European Heart Journal Supplements. 22:N83-N87
Publication Year :
2020
Publisher :
Oxford University Press (OUP), 2020.

Abstract

Hypertrophic cardiomyopathy (HCM) and Long QT Syndrome (LQTS) are inherited diseases characterized by a wide genetic heterogeneity. Based on the separate incidence of these pathologies and on the absence of linkage, the occurrence of both diseases in the same individual has an incidence of about 1/250000. We describe a rare case report of a 24 years-old patient with maternal familiarity for type 1 LQTS (mother carrier of KCNQ1 c.1781G>A) and paternal familiarity for HCM (father carrier of TNNI3 c.592C>G mutation) who inherited both gene mutations and was diagnosed with HCM and LQTS later in adolescence, after clinical and genetic evaluations.

Details

ISSN :
15542815 and 1520765X
Volume :
22
Database :
OpenAIRE
Journal :
European Heart Journal Supplements
Accession number :
edsair.doi...........61dd6b865b270b1deb6019be34e11b96