The genetics of left ventricular noncompaction

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