Journal Basic Info
- Impact Factor: 0.285**
- H-Index: 6
- ISSN: 2638-4558
- DOI: 10.25107/2638-4558
Major Scope
- Signs and Symptoms-Clinical Findings
- Neurological Surgery
- Oncology
- Microbiology
- Neonatology
- Renal Disease
- Cardiology
- Lung Cancer
Abstract
Citation: Clin Case Rep Int. 2023;7(1):1469.DOI: 10.25107/2638-4558.1469
Genetic Mutation Screening Revealed a Rare MYBPC3 Mutation in a Case with Complex Arrhythmogenic Right Ventricular Cardiomyopathy
Boneva T, Karamfiloff K, Ivanova R, Zlatancheva G, Shumkova M, Stoyanova K, Yaneva-Sirakova T, Vassilev Dand Dimova I
Department of Cardiology, Alexandrovska University Hospital, Bulgaria
Department of Cardiology, SBALK “Medica COR” Rousse, Bulgaria
Department of Medical Genetics, Medical University Sofia, Bulgaria
*Correspondance to: Ivanka Dimova
PDF Full Text Case Report | Open Access
Abstract:
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.
Keywords:
Arrhythmogenic cardiomyopathy; Next generations sequencing; MYBPC3 mutation
Cite the Article:
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.