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370 The CO-existence of KCNQ1 and TNNI3 genes mutations supports the genetic origin of QTC abnormalities in hypertrophic cardiomyopathy
- 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.
- Subjects :
- Genetics
biology
Genetic heterogeneity
business.industry
Long QT syndrome
Genetic disorder
Hypertrophic cardiomyopathy
medicine.disease
Genetic analysis
QT interval
Mutation (genetic algorithm)
biology.protein
medicine
cardiovascular diseases
KvLQT1
Cardiology and Cardiovascular Medicine
business
Subjects
Details
- ISSN :
- 15542815 and 1520765X
- Volume :
- 22
- Database :
- OpenAIRE
- Journal :
- European Heart Journal Supplements
- Accession number :
- edsair.doi...........61dd6b865b270b1deb6019be34e11b96