Heart Care Info - Heart Disease Prevention & Treatment

Clinical Phenotype and Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy in Paediatric Patients Carrying Desmosomal Gene Mutations

B Bauce, A Rampazzo, C Basso, E Mazzotti... - Heart Rhythm, 2011 - Elsevier Note to users: The section "Articles in Press" contains peer reviewed accepted articles to be published in this journal. When the final article is assigned to an issue of the journal, the "Article in Press" version will be removed from this section and will appear in the associated ...

The aim of the study was to describe the ARVC phenotype as its initial clinical manifestation in a pediatric population (14 years (42%). At the end of follow-up (9 7 years), 21 (40%) fulfilled the 1994 diagnostic criteria (mean age 16 4 years). By using the 2010 criteria in subjects aged ≤18 years, 53% were unaffected, versus 62% by using the traditional criteria. More than two-thirds of affected subjects had moderate-severe forms of the disease. Contrast-enhanced CMR was performed in 21 (40%); of 13 unaffected gene mutation carriers, six showed ARVC morphological and/or tissue abnormalities.

In pediatric ARVC mutation carriers, a diagnosis was achieved in 40% of cases, confirming that the disease usually develops during adolescence and young adulthood. The 2010 modified criteria seem to be more sensitive than the 1994 ones in identifying familial pediatric cases. Contrast-enhanced CMR can provide diagnostic information on gene mutation carriers not fulfilling either traditional or modified criteria. Management of asymptomatic gene mutation carriers remains the main clinical challenge.