Author + information
- Frank I. Marcus, MD∗ (, )
- Sue Edson, BS and
- Jeffrey A. Towbin, MD
- ↵∗Department of Cardiology, University of Arizona Heart Center, Sarver Heart Center, 1501 North Campbell Avenue, Room 5153, P.O. Box 245037, Tucson, Arizona 85724-5037
We thank the members of the Johns Hopkins arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) program for their comments regarding our paper (1). The objective of our paper was to provide complete information to physicians and their patients about the genetics of ARVD/C, including all aspects of the inheritance of ARVD/C. In vitro fertilization was included because this is an option for parents to have a child without the possibility of the child developing this condition if 1 of the parents has a pathological gene for arrhythmogenic right ventricular cardiomyopathy. We are not advocating this; we are simply indicating that this option exists. As noted in our report (1), this disease is autosomal dominant, and the offspring has a 50% chance of inheriting the disease if 1 of the parents has an abnormal gene. Although the penetrance is variable, the possibility of the disease expression in the offspring of the parent with a known gene defect is definitely present and parents need to be aware of this. If the offspring develops arrhythmogenic right ventricular cardiomyopathy, the parents may feel guilty about having knowingly taken the risk of transmitting the disease.
- American College of Cardiology Foundation