July 22, 2013
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Intense exercise increased CV risk in patients with genetic mutation

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Healthy carriers of a genetic mutation for arrhythmogenic right ventricular dysplasia/cardiomyopathy who participate in endurance sports or frequent exercise are more likely to develop symptoms of the disease, ventricular arrhythmias and HF, according to new data.

Researchers evaluated 87 participants aged 10 to 88 years (46 men) who carried a desmosomal mutation associated with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and were enrolled in the Johns Hopkins ARVD/C registry. They were followed for an average of 8 years, according to a press release.

Of all participants, 56 were endurance athletes. At last follow-up, 55% of endurance athletes vs. 26% of non-athletes experienced a sustained ventricular arrhythmia (P=.008). Endurance athletes were also more likely to have cardiac symptoms, including ventricular arrhythmias, syncope, presyncope, palpitations or chest pain upon presentation (68% vs. 29%; P=.001) and during follow-up (75% vs. 32%; P<.001). Further, the researchers found that endurance athletes developed symptoms at a younger age (30.1 years vs. 40.6 years; P=.05); were more likely to meet overall diagnostic criteria for ARVD/C (82% vs. 35%; P<.001); and had a lower lifetime survival free from a sustained ventricular arrhythmia (P=.013).

Hugh Calkins, MD 

Hugh Calkins

At presentation, no participants had HF, but 12% developed HF during follow-up at a mean age of 42 years, all of whom were endurance athletes (18% vs. 0%; P=.012). Lifetime survival free from HF was also lower for endurance athletes (P=.004).

Compared with those who exercised the least per year before presentation, participants in the second (OR=6.64; P=.013), third (OR=16.7; P=.001) and top (OR=25.3; P<.0001) quartiles of annual exercise were increasingly likely to meet the diagnostic criteria for ARVD/C.

A reduction in exercise among participants in the top quartile of exercise, however, lowered the risk for a sustained ventricular arrhythmia (P=.04), according to the researchers.

“This is one of the very rare instances in which we would advise against regular exercise. However, our study shows that people who carry the mutation need to be cautious, and we hope that the data will help these individuals avoid life-threatening complications down the road,” study researcher Hugh Calkins, MD, professor of medicine and director of Johns Hopkins ARVD/C program, said in the release.

“Increasing numbers of people are having genetic testing for ARVD/C once they find out that a member of their family has the mutation. This is important information for them and their physicians.”

Disclosure: The study is funded by the NHLBI, the St. Jude Medical Foundation and Medtronic. Calkins receives research support from Medtronic and St. Jude Medical.