Description of a Cohort with a New Truncating Variant for Hypertrophic Cardiomyopathy in Northern Spain.

Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeric gene inherited with an autosomal dominant pattern, whereas incomplete and age-dependent penetrance are the most common causes of HCM.

Methods: We describe the clinical characteristics of a new truncating variant, p.