Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. 2017; 45(5): 450-453 | DOI: 10.5543/tkda.2016.56267

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

Olgu Hallioglu Kilinc1, Dilek Giray1, Atil Bisgin2, Sevcan Tug Bozdogan3, Derya Karpuz1
1Department of Pediatric Cardiology, Mersin University Faculty of Medicine, Mersin, Turkey
2Department of Medical Genetics, Çukurova University Faculty of Medicine, Adana, Turkey
3Department of Medical Genetics, Mersin University Faculty of Medicine, Mersin, Turkey

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691-3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic. Hypertrophy was observed in sister and father of the patient in echocardiography screening, and it was subsequently determined that they also had same mutation. This mutation has not previously been defined and reported previously in the literature as cause of hypertrophic cardiomyopathy.

Keywords: Echocardiography, hypertrophic cardiomyopathy, molecular genetics, MYBPC.

Olgu Hallioglu Kilinc, Dilek Giray, Atil Bisgin, Sevcan Tug Bozdogan, Derya Karpuz. Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene. Turk Kardiyol Dern Ars. 2017; 45(5): 450-453

Corresponding Author: Dilek Giray, Türkiye
© copyright 2017 Archives of the Turkish Society of Cardiology
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