Age-Dependent Clinical and Genetic Characteristics in Japanese Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease caused by desmosomal gene mutations, and presents as ventricular tachycardia and sudden cardiac death. Although the mean age at onset or diagnosis of ARVC/D are reported to be around the 30–40s,...

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Bibliographic Details
Published in:Circulation Journal 2013, Vol.77(6), pp.1534-1542
Main Authors: Ohno, Seiko, Nagaoka, Iori, Fukuyama, Megumi, Kimura, Hiromi, Itoh, Hideki, Makiyama, Takeru, Shimizu, Akihiko, Horie, Minoru
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Aged
Aging - genetics
Aging - pathology
Arrhythmia
Arrhythmogenic Right Ventricular Dysplasia - genetics
Arrhythmogenic Right Ventricular Dysplasia - pathology
Arrhythmogenic Right Ventricular Dysplasia - physiopathology
Asian Continental Ancestry Group
Cardiac arrest
Cardiomyopathy
Desmocollins - genetics
Desmocollins - metabolism
Desmoglein 2 - genetics
Desmoglein 2 - metabolism
Desmoplakins - genetics
Desmoplakins - metabolism
Female
Genes
Humans
Japan
Male
Middle Aged
Mutation
Plakophilins - genetics
Plakophilins - metabolism
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Summary:Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease caused by desmosomal gene mutations, and presents as ventricular tachycardia and sudden cardiac death. Although the mean age at onset or diagnosis of ARVC/D are reported to be around the 30–40s, the age-dependent clinical and genetic differences remain unknown. Methods and Results: A total of 35 consecutive Japanese probands (23 male) who were clinically diagnosed with ARVC/D were enrolled in the present study, and genetic analysis of PKP2, DSP, DSG2, and DSC2 was done. The mean age at the first symptom and at diagnosis was 38.6±14.8 years and 40.5±17.7 years, respectively. Probands in whom the onset was cardiopulmonary arrest were significantly younger (22.3±15.3 years) than those with arrhythmia (41.1±13.2 years) or congestive heart failure (45.7±8.5 years). On genetic screening, 19 mutation carriers were identified. Although there was no age dependence for each gene mutation carrier, carriers with PKP2 premature stop codon developed the disease at a significantly younger age than other mutation carriers. Conclusions: The initial clinical manifestations in some young probands were very severe, and PKP2 mutations with a premature stop codon would be associated with disease onset at a younger age.  (Circ J 2013; 77: 1534–1542)
ISSN:1346-9843
1347-4820
DOI:10.1253/circj.CJ-12-1446