July 5, 2011Open Access
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations
Key Result
Among 53 pediatric ARVC desmosomal gene mutation carriers, 40% fulfilled the 1994 diagnostic criteria after a mean follow-up of 9 years, confirming disease development during adolescence.
Study Design
Type
Observational (n=53)
Structured PICO
Does the use of 2010 modified criteria improve the diagnosis of ARVC in pediatric desmosomal gene mutation carriers compared to 1994 criteria?
P
Population
53 pediatric ARVC desmosomal gene mutation carriers (mean age 12.3 years) followed for a mean of 9 years to describe the clinical phenotype and age at disease onset.
E
Exposure
Diagnostic evaluation including ECG, signal-averaged ECG, 24-hour Holter, echocardiogram, and contrast-enhanced CMR, applying 1994 and 2010 diagnostic criteria.
O
Outcome
Fulfillment of ARVC diagnostic criteria (1994 vs 2010) and clinical phenotype manifestation.surrogate
Abstract
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease carrying a risk of sudden death. Information about the clinical features during childhood and the age at disease onset is scanty. OBJECTIVE: 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. CONCLUSION: 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.