A novel paternally-inherited MYH7 gene variant in brothers with left ventricular non-compaction

We report the cases of two Caucasian brothers who both have the same paternally-inherited heterozygous MYH7 gene variant, R1832H. The defect was detected by whole exome sequence analysis. Both brothers presented with varying degrees of skeletal myopathy and left ventricular non-compaction. Variants in the MYH7 gene are associated with autosomal dominant forms of skeletal and cardiac myopathies. And in silico models predict this specific R1832H variant has a deleterious effect on protein structure suggesting it is likely disease-causing.