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.
Why the study?
Does the use of 2010 modified criteria improve the diagnosis of ARVC in pediatric desmosomal gene mutation carriers compared to 1994 criteria?
Population
53 pediatric patients (<18 years) carrying ARVC desmosomal gene mutations, mean age 12.3 ± 3.9 years.
Design
Cohort
Follow-up
9 ± 7 years
Authors
Discussion
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Member takes
Implication
2010 criteria may increase ARVC diagnoses in pediatric mutation carriers; leaves open effects on risk stratification and outcomes.
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
Cite This Study
Bauce et al. (2011) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=53). Desmosomal gene mutations was evaluated on Fulfillment of ARVC diagnostic criteria. 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.