What is the chromosomal location of the gene responsible for arrhythmogenic right ventricular cardiomyopathy?
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24, enabling pre-symptomatic identification of carriers.
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) is a dominantly inherited disorder progressively affecting the myocardium and it is one of the major causes of juvenile sudden death. The chromosomal localization of the disease gene is reported here for the first time. A maximum lod score of 6.04 was obtained at theta = 0 for linkage with the polymorphic marker D14S42 (14q23-q24) in two families, one of which has 82 subjects (19 affected) in four generations. The pre-symptomatic identification of ARVD carriers by linkage analysis in the affected families strongly increases the possibility of prevention of life-threatening complications.
Rampazzo et al. (1994) studied this question.
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