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.
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Acknowledgements
We would like to thank the patients and their families for participation in this study. This study was funded by the TRANSAC Strategic Research Grant CPDA133979/13, University of Padua, Italy; Target Projects 331/12, RP 2014-00000394, Regional Health System, Venice, Italy; The University of Padua Research Project (PRAT) CPDA133979.
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De Bortoli, M., Calore, C., Lorenzon, A. et al. Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy. Eur J Hum Genet 25, 1165–1169 (2017). https://doi.org/10.1038/ejhg.2017.109
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DOI: https://doi.org/10.1038/ejhg.2017.109
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