Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report

International Journal of Arrhythmia

Thomas André Brouzet¹  Laura García-Cano¹  José Luis Ibáñez-Criado¹  Alicia Ibáñez-Criado¹  Amaya García-Fernández¹  Juan Gabriel Martínez-Martínez¹  Marta Monteagudo-Viana² 

[1] Arrhythmia Unit, Cardiology Service, Alicante University General Hospital, Alicante Health and Biomedical Research Institute (ISABIAL), C/Pintor Baeza, 11., 03010, Alicante, Alicante, Spain;Cardiology Service, University Hospital Sant Joan D’Alacant, Hospital Universitari Sant Joan D’Alacant, Alicante, Spain;

关键词: Catecholaminergic polymorphic ventricular tachycardia;    Ryanodine receptor type 2 (RyR2);    Rare gene mutation;    Case report;   

DOI  :  10.1186/s42444-021-00043-x

来源: Springer

【 摘 要 】

BackgroundCatecholaminergic 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 presentationWe 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.ConclusionsWe 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.

【 授权许可】

CC BY