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

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.

Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation

Actin α2 (ACTA2) is a protein crucial for proper functioning of contractile apparatus in smooth muscles. A specific mutation resulting in substitution of arginine at position 179 by histidine (p.R179 H) in ACTA2 has been shown to be associated with multisystemic smooth muscle dysfunction syndrome. Characteristic features include aneurysmal arterial disease. Due to rarity of this disease, we report a nine-year-old girl with this rare genetic variant in whom cardiovascular manifestations were identified in fetal life and who needed neonatal cardiac surgical intervention.