The genetics of left ventricular noncompaction.

摘要: Purpose of review This article summarises current understanding the genetic architecture underpinning left ventricular noncompaction (LVNC) and highlights difficulty in differentiating LVNC from hypertrabeculation seen normal, healthy individuals, that caused by physiological adaptation or association with cardiomyopathy phenotypes. Recent findings Progress has been made better defining phenotype those patients who may benefit testing. Yield diagnostic testing be low absence syndromic features, systolic dysfunction a family history cardiomyopathy. Sarcomeric gene variants are most commonly identified but wide-range genes implicated, emphasising high degree heterogeneity studied cohorts. Summary More accurate phenotyping genotype-phenotype correlation required to characterise LVNC.