[Diagnosis of hypertrophic cardiomyopathy. Validation of criteria using genetics]

Our understanding of the genetics of hypertrophic cardiomyopathy has progressed significantly over the last few years. Seven genes have been identified as being responsible for familiar forms of the disease. This information has been useful, mainly in the elucidation of the physiopathology but clinical implications are also beginning to see the light of day. One example is the assessment of the pertinence of traditional diagnostic criteria. The originality of these studies lies in the analysis of familial hypertrophic cardiomyopathies in which the causal mutation has been identified, using the genetic status of the individual as the reference. The conventional diagnostic criteria then appear to be very specific but not very sensitive, inciting further analysis of additional criteria which might improve the diagnostic performance of routine investigations. This also opens the door to a comprehensive revision of the diagnostic criteria of this disease.