Abstract
Left ventricular non compaction (LVNC) and hypertrophic cardiomyopathy (HCM) are genetically mediated primary cardiomyopathies that have both been associated with mutations in sarcomere protein genes. We describe the first case of the MYBPC3 p.Arg502Trp mutation manifesting as an LVNC phenotype. In addition, we describe this occurring within a family where the phenotype had been expressed as HCM in other kindred. Clinical screening including repeated electrocardiograms and echocardiograms of the 27 year old son of a woman with previously diagnosed HCM revealed only borderline findings. Cardiac magnetic resonance (CMR) i g m
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