Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular geneti...

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Bibliographic Details
Main Authors: Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Medical Genetics
Subjects:
Arrhythmogenic right ventricular cardiomyopathy
Cardiomyopathies
Desmosomes
DSG2
Mutation
Case series
Online Access:http://link.springer.com/article/10.1186/s12881-017-0442-3

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http://link.springer.com/article/10.1186/s12881-017-0442-3

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