title: Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.
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 (<18 years) with desmosomal gene mutations.
  
  
  METHODS
  Fifty-three ARVC desmosomal gene mutation carriers (mean age 12.3 ± 3.9 years) were investigated by electrocardiogram (ECG), signal-averaged ECG, 24-hour Holter, echocardiogram, and contrast-enhanced cardiac magnetic resonance (CMR).
  
  
  RESULTS
  None of the children ≤10 years old fulfilled the 1994 criteria, as opposed to six (33%) aged 11-14 years and eight aged >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.
  
  
  CONCLUSIONS
  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.
authors: Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy. barbara.bauce@unipd.it
authors: Barbara
authors: B
authors: Bauce
authors: Alessandra
authors: A
authors: Rampazzo
authors: Cristina
authors: C
authors: Basso
authors: Elisa
authors: E
authors: Mazzotti
authors: Ilaria
authors: I
authors: Rigato
authors: Alexandros
authors: A
authors: Steriotis
authors: Giorgia
authors: G
authors: Beffagna
authors: Alessandra
authors: A
authors: Lorenzon
authors: Marzia
authors: M
authors: De Bortoli
authors: Kalliopi
authors: K
authors: Pilichou
authors: Martina Perazzolo
authors: MP
authors: Marra
authors: Francesco
authors: F
authors: Corbetti
authors: Luciano
authors: L
authors: Daliento
authors: Sabino
authors: S
authors: Iliceto
authors: Domenico
authors: D
authors: Corrado
authors: Gaetano
authors: G
authors: Thiene
authors: Andrea
authors: A
authors: Nava
mesh_terms: D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D003896:Desmosomes / Q000235:genetics*; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D012189:Retrospective Studies
chemical_list: D004247:DNA