Arrhythmogenic Right Ventricular Cardiomyopathy

Abnormal atrial activation is common in patients with arrhythmogenic right ventricular cardiomyopathy

“…4 ARVC commonly affects the heart on the ventricular level and current diagnostics is based mostly on the signs of electrical, structural or functional right and/or left ventricular dysfunction. 5 Despite the desmosomal proteins that are commonly involved in the pathogenesis of the disease 6 are present both in ventricles and atria, there has not been any study that systematically evaluates possible signs of atrial involvement in ARVC. Studies in animal models of the disease consistently report the presence of fibro-fatty replacements in atrial myocardium in affected animals, 7,8 while human data on this topic are limited to a handful of case reports.…”

Arrhythmogenic Cardiomyopathy

“…Arrhythmogenic cardiomyopathy (AC) (OMIM #107970; ORPHA247) is a rare disease of the heart muscle characterized by a progressive myocardial dystrophy with fibro-fatty replacement [1][2][3][4]. It is a genetically determined cardiomyopathy caused by heterozygous or compound heterozygous mutations in genes mostly encoding proteins of the desmosomal complex (about 50 % of probands).…”

“…It is a genetically determined cardiomyopathy caused by heterozygous or compound heterozygous mutations in genes mostly encoding proteins of the desmosomal complex (about 50 % of probands). Cases with a recessive trait of inheritance have been reported, either associated or not with skin/ hair abnormalities [3,4]. AC shows an age-related penetrance, manifesting with palpitations, syncope or cardiac arrest usually in adolescence or young adulthood [5] and represents one of the major causes of sudden death (SD) in the young and athlete [1,6,7].…”

“…There is no a single gold standard for the diagnosis, which is mainly based on functional and structural alterations of the right ventricle (RV), fibro-fatty replacement of the myocardium, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block (LBBB) morphology and family history [8]. Genotype-phenotype correlation studies have recently identified clinical variants characterized by early dominant left ventricular (LV) involvement, besides the classical RV variant, thus supporting the use of the broader term AC [3,4,[9][10][11]. In this paper we will review clinical, pathologic and genetic findings of AC, together with diagnosis and treatment.…”

Signs of RV overload on the athlete’s ECG

“…Mutations in the desmosomal genes account for approximately 50% of ARVC cases [8]. However, there is emerging evidence that intense endurance sports may lead to a similar phenotype (with similar prognosis) even in the absence of desmosomal mutations [7,9].…”