Left ventricular non-compaction associated with a MYH7 splicing variant (c.818+1G>A)

Left Ventricular Noncompaction (LVNC) is a cardiac disease characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. MYH7 splicing mutations are very rare, and seem to be restricted to patients with myopathy of LVNC. We characterized at the Cardiac Magnetic Resonance (CRM) and genetic levels in one individual (index case) from a family with LVNC. The patient was heterozygous carrier of a splicing MYH7 intron 8 variant (c.818+1G>A). One of his sons was also mutation carrier but clinically asymptomatic. However, the CRM showed the presence of LVNC. We concluded that the rare MYH7 intron 8 splicing mutation was associated with typical LVNC lesions in the CRM, albeit mutation carriers remain clinically asymptomatic. Keywords: left ventricular non-compaction; MYH7 gene; RNA decay; cardiac magnetic resonance.