Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report
| Autor: | Thomas Brouzet, Juan Gabriel Martínez-Martínez, Amaya García-Fernández, Alicia Ibáñez-Criado, Marta Monteagudo-Viana, José Luis Ibáñez-Criado, Laura García-Cano |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
business.industry Ryanodine receptor Adrenergic Catecholaminergic polymorphic ventricular tachycardia medicine.disease Ryanodine receptor 2 Ryanodine receptor type 2 (RyR2) Loss of heterozygosity Channelopathy Internal medicine RC666-701 Case report medicine Cardiology cardiovascular system Diseases of the circulatory (Cardiovascular) system Exertion cardiovascular diseases Family history Rare gene mutation business |
| Zdroj: | International Journal of Arrhythmia, Vol 22, Iss 1, Pp 1-4 (2021) |
| ISSN: | 2466-1171 |
| Popis: | Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity. Case presentation We present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant. Conclusions We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis. |
| Databáze: | OpenAIRE |
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