Clin Case Rep Int | Volume 7, Issue 1 | Case Report | Open Access

Genetic Mutation Screening Revealed a Rare MYBPC3 Mutation in a Case with Complex Arrhythmogenic Right  Ventricular Cardiomyopathy

Boneva T1, Karamfiloff K1, Ivanova R1, Zlatancheva G1, Shumkova M1, Stoyanova K1, Yaneva-Sirakova T1, Vassilev D2 and Dimova I3*

1Department of Cardiology, Alexandrovska University Hospital, Bulgaria
2Department of Cardiology, SBALK “Medica COR” Rousse, Bulgaria
3Department of Medical Genetics, Medical University Sofia, Bulgaria

*Correspondance to: Ivanka Dimova 

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is characterized by progressive fat or fibrofatty replacement of the Right Ventricular (RV) myocardium. The cause of ARVD/C is not yet clear, but recent studies suggest it is most often related to genetic mutations. Left Ventricular (LV) or biventricular involvements are increasingly identified in ARVD/C patients. The genetic background of cardiomyopathies could shed light on the mechanism of their development, clinical presentations and new treatment options. We describe here a patient affected by arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement, with the presence of coronary artery anomalies. There were aneurisms of coronary arteries and Left Circumflex Artery (LCx) arises from right coronary sinus. Physiological, imaging and invasive study was performed in details. In addition, genetic analysis by Next Generation Sequencing (NGS), using panel of genes for hereditary cardiomyopathy, was done. We detected a missense mutation in MYBPC3 gene (c.1316G>A, p.Gly439Asp), classified as variant of unknown significance. We discuss myosin-related mutations in different kinds of cardiomyopathy with dosage-dependent effects of MYBPC3 on myosin that occurs across the cardiac cycle.   The association of the found MYBPC3 mutation with the development of that complex cardiomyopathy is worthy to be investigated, since it could have an important impact on the application of new treatment, using specific myosin targeted agents.


Arrhythmogenic cardiomyopathy; Next generations sequencing; MYBPC3 mutation


Boneva T, Karamfiloff K, Ivanova R, Zlatancheva G, Shumkova M, Stoyanova K, et al. Genetic Mutation Screening Revealed a Rare MYBPC3 Mutation in a Case with Complex Arrhythmogenic Right Ventricular Cardiomyopathy. Clin Case Rep Int. 2023; 7: 1469.

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