Whole-Exome Sequencing Reveals GATA4 and PTEN Mutations as a Potential Digenic Cause of Left Ventricular Noncompaction

A 48-year-old male proband presented with atypical chest pain.An echocardiogram revealed possible left ventricular apical noncompaction that was confirmed by cardiac magnetic resonance imaging as left ventricular noncompaction cardiomyopathy (LVNC; Figure 1A).His ejection fraction was initially preserved at 60% but declined to 45% over the subsequent 6 years despite optimal medical therapy.His asymptomatic 19-year-old son was diagnosed with LVNC at the time of a screening echocardiogram, and follow-up cardiac magnetic resonance imaging confirmed the diagnosis (Figure 1B).His ejection fraction was 50% at the time of diagnosis and was subsequently stable for 5 years with medical therapy.An echocardiogram from the proband's father showed normal left ventricular structure and function with no excess trabeculation (Figure 1C and 1D).The proband's daughter had a normal echocardiogram.There were no other family members with a known history of cardiomyopathy or heart failure (Figure 1E).