Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population

Abstract

Pediatric patients with ARVD/C are typically male mutation carriers presenting in adolescence. Pediatric patients disproportionately present with sudden cardiac death. However, once diagnosed, clinical characteristics and outcomes are similar between pediatric and adult patients.

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

“…7,8 Moreover, peculiarities of diagnosis in the paediatric population, which represents approximately one-sixth of the overall ARVC-population, were not addressed. 16 The present international expert report is not intended to redesign the 2010 ITF diagnostic criteria, which in the general view of the authors are still valid and do not need substantial changes. However, the increasing risk of misdiagnosis resulting from the inappropriate use of the criteria has prompted this international expert document aimed to critically review the clinical performance and highlight the potential limitations of current criteria, to propose some solutions for a better clinical use and to identify potential areas of improvement, with particular reference to diagnosis of left-sided phenotypes and identification of early disease in the paediatric population.…”

Sudden Cardiac Death in Children Affected by Cardiomyopathies: An Update on Risk Factors and Indications at Transvenous or Subcutaneous Implantable Defibrillators

“…Children with adverse events were more likely to be probands, to have >500 PVCs/24 h and to have structural abnormalities on imaging. In this cohort of pediatric patients fulfilling the 2010 Task Force diagnostic criteria (31), males were more frequently represented, with a mutation in plakophilin-2 (76%) and they were often involved in endurance sport, thus highlighting that participation in highintensity activity may influence an early onset of the disease. Indeed, both European, and American guidelines recommend avoidance of competitive sports in affected individuals as class I indication, as intense physical activity favors progression of the disease and sudden cardiac death risk (24,25).…”

“…Regarding the more common autosomal dominant form of AC, there are very few studies specifically focused on pediatric patients. One of the largest cohorts, including 75 patients below age 18, is the one by te Riele et al (31), showing that AC with a pediatric onset was characterized by a high proportion of sudden cardiac death or arrest at presentation. Once diagnosed, outcomes such as sustained VT, cardiac transplantation and death were similar to adult patients.…”

Arrhythmogenic right ventricular cardiomyopathy as a hidden cause of paediatric myocarditis presentation

“…It is characterised by myocardial apoptosis and fibrofatty replacement in the subepicardial layers of the right ventricular myocardium, but it is well established that the same pathology can affect both ventricles or predominantly the left ventricle. ARVC usually manifests between the second and fourth decade of life but can present during adolescence [2]. Early symptoms include palpitations, syncope and at later stages patients may develop heart failure.…”