Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy

Aims Although dilated cardiomyopathy is the most frequent form of cardiomyo pathy, its aetiology is still poorly understood. In about 20-30% of cases t he disease is familial with a large predominance of autosomal dominant tran smission. Ten different chromosomal loci have been described for autosomal dominant forms of dilated cardiomyopathy. Only two genes have been associat ed with pure forms (without myopathy and/or conduction disorders) of the di sease, the cardiac actin and the desmin genes. Our aim was to determine the proportion of dilated cardiomyopathy affected individuals carrying a mutat ion in one of these two genes. Methods and Results We performed (1) a systematic polymerase chain reaction -SSCP-sequencing screening of the coding sequences of cardiac actin on DNA samples from 43 probands of dilated cardiomyopathy families and 43 sporadic cases; (2) a systematic polymerase chain reaction-SSCP-sequencing screenin g of the coding sequences of desmin combined with a search for the describe d missense mutation (Ile451Met) by restriction fragment length polymorphism analysis on DNA samples from 41 probands of dilated cardiomyopathy familie s and 22 sporadic cases. Conclusion None of the patients presents a mutation in any of these two gen es. Consequently, the proportion of European dilated cardiomyopathy affecte d individuals bearing a mutation in (1) the cardiac actin gene is less than 1.2%, (2) the desmin gene is less than 1.6%. (Eur Heart J 2000; 21: 1872-1 876, doi:10.1053/euhj,2000. 2245) (C) 2000 The European Society of Cardiolo gy.