| Literature DB >> 28699631 |
Marzia De Bortoli1, Chiara Calore2, Alessandra Lorenzon1, Martina Calore1, Giulia Poloni1, Elisa Mazzotti2, Ilaria Rigato2, Martina Perazzolo Marra2, Paola Melacini2, Sabino Iliceto2, Gaetano Thiene2, Cristina Basso2, Luciano Daliento2, Domenico Corrado2, Alessandra Rampazzo1, Barbara Bauce2.
Abstract
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, one patient was identified to carry mutations in α-T-catenin (CTTNA3) and β-myosin (MYH7) genes, but he does not fulfill the current diagnostic criteria neither for ACM nor for HCM. Interestingly, the double heterozygotes showed a variable clinical expression of both cardiomyopathies and they do not exhibit a more severe phenotype than family members carrying only one of the two mutations.Entities:
Mesh：
Substances：
Year: 2017 PMID： 28699631 PMCID： PMC5602010 DOI： 10.1038/ejhg.2017.109
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246