The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

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Abstract
In all seven families the index case had presented with symptoms of heart failure due to a dilated cardiomyopathy in the first year of life, usually within the first 3 months. One infant had been diagnosed as affected with Alström syndrome by prenatal diagnosis and was born with heart failure secondary to a dilated cardiomyopathy. All cases responded to conventional supportive therapy and the cardiomyopathy appeared to spontaneously resolve within 6 months. Although Warren et al first described dilated cardiomyopathy in Alström syndrome in 1987, the initial descriptions of the clinical features of Alström syndrome did not suggest that it was a frequent occurrence or that it could present in the first year of life.3, 4 However, a more recent study found that 18 of 22 retrospectively diagnosed individuals had a dilated infantile cardiomyopathy.1 Taken together with our findings this suggests that infantile dilated cardiomyopathy may be a common feature of Alström syndrome.

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