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ARVD Genetics.

Often the disease is first diagnosed after the autopsy of a case of sudden death in a young subject or after thorough clinical examination of a patient showing arrhytmias. Therefore, the occurrence of the disease appears, at the first glance, sporadic. On the contrary, in most cases a subsequent study of the family is able to detect additional subjects showing the typical features of ARVD.

ARVD is mostly inherited as autosomal dominant trait with incomplete penetrance. It means that an affected subject has 50% chance to pass the defective gene to his/her progeny, but the subject who inherited the defective gene has, in turn, about 70% chance of manifesting the disease at the clinical level.

The autosomal recessive inheritance is infrequent. To date, this form was described only in the island of Naxos (Greece), associated with palmoplantar keratosis.

 
             
         
  About this page:
Revisor:  Prof. G.A.Danieli.
Last update:  May, 6th, 2003.

 
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