Does the presence of sarcomeric protein mutations associate with specific clinical features in patients with hypertrophic cardiomyopathy?
Current evidence is too heterogeneous to establish precise genotype-phenotype relationships for sarcomeric mutations in hypertrophic cardiomyopathy, highlighting the need for larger standardized studies.
The presence of a mutation in any sarcomere gene is associated with a number of clinical features. The heterogeneous nature of the disease and the inconsistency of study design precludes the establishment of more precise genotype-phenotype relationships. Large scale studies examining the relation between genotype, disease severity, and prognosis are required.
Lopes et al. (2013) studied this question.