Does high-throughput sequencing identify novel genotype-phenotype associations in patients with hypertrophic cardiomyopathy?
High-throughput sequencing reveals that both rare sarcomere protein (SP) variants and non-SP genes significantly influence the clinical phenotype and survival of patients with hypertrophic cardiomyopathy.
Patients with HCM caused by rare SP variants differ with respect to age at presentation, family history of the disease, morphology and survival from patients without SP variants. Novel associations for SP genes are reported and, for the first time, we demonstrate possible influence of variation in non-SP genes associated with other forms of cardiomyopathy and arrhythmia syndromes on the clinical phenotype of HCM.
Lopes et al. (Tue,) studied this question.