Diagnostic Evaluation of Children with Known or Suspected ARVC/D

The issue of ARVC/D in children and use of diagnostic modalities (such as CMR) in the pediatric population remain controversial. In this chapter, we are discussing some of the most recently published research providing an evidence and understanding of the most beneficial follow-up protocol in childhood. The majority of longitudinal studies in ARSVC/D indicate that electrical abnormalities on ECG or Holter monitoring are more prevalent than structural changes defined by either echocardiography or CMR. Based on published data, we believe it is reasonable to suggest that ECGs and Holter monitoring be performed at yearly intervals after the age of 8 or 10 years, supplemented by CMR studies if electrical abnormalities are present. We also provide our clinical algorithm of the ECG, Holter and CMR utilization in the population with positive genotype, and/or positive family history of ARVC/D, allowing to screen for phenotypic presentations in case of potentially fatal disorder. In addition to a close clinical follow-up, we recommend considering an evidence suggesting that frequent, prolonged, and vigorous athletic activity may represent a risk factor for sudden cardiac death and can exacerbate the rate of progression of the ARVC/D. Therefore, these types of activity should be avoided by probands or by family members who are prone to develop the disease.