Left ventricular noncompaction cardiomyopathy: Recent update on genetics, usefulness of biomarker, and speckle imaging

Abstract

Left ventricular noncompaction cardiomyopathy (LVNC) is an emerging form of predominantly genetically mediated cardiomyopathy characterized by failure of intrauterine compaction of the myocardium leading to the formation of two distinct layers of myocardium, an outer compacted thinner epicardial layer and an inner hypertrophied non compacted endocardial layer interspersed by blood-filled intertrabecular recess.We read with great interest the review article by Ikeda et al.[1] titled [ 1 8 _ T D $ D I F F ]`Isolated left ventricular non-compaction cardiomyopathy in adults[ 1 9 _ T D $ D I F F ] '' giving a comprehensive overview of this emerging form of cardiomyopathy. LVNC is a relatively rare form of cardiomyopathy and listed under the category of genetic cardiomyopathies by the American Heart Association. With the improvement in diagnostic modalities the incidence of LVNC has increased in clinical practice, however, still there is lack of familiarity among clinicians about this form of cardiomyopathy. The pathogenesis of LVNC is characterized by a deviation from normal embryological development in which there is involution of trabeculations and formation of the compact myocardium in ventricles and transformation of the intertrabecular recess into capillaries with the development of coronary vessels by [ 2 0 _ T D $ D I F F ] 12-18 weeks of gestation. However, in LVNC, the embryological spongy appearance of myocardium persists after birth and results in the formation of two distinct layers of the myocardium. LVNC may occur in isolation or may be associated with other cardiac anomalies like Ebstein anomaly [2]. Clinical presentation of LVNC varies across the spectrum from a severe prenatal form of systolic heart failure to asymptomatic adults. Classically it is characterized by the triad of systolic heart failure, arrhythmia, and thromboembolic phenomena.In a recently published study, van Waning et al.[3] studied the correlation of genetics with clinical features and outcomes among children and adults diagnosed with LVNC. In most families, LVNC is characterized by the autosomal dominant pattern of inheritance with variable penetration. They showed that nearly one-third of LVNC patients had a mutation in cardiomyopathy gene. MYH7,

Advances in symptomatic therapy for left ventricular non-compaction in children

“…Many studies have successfully identified genes associated with cardiomyopathy (118)(119)(120)(121)(122)(123)(124)(125), and this information can be employed in genome editing technology (126); while gene therapy will progressively develop in an increasing number of genetic tests, making the future eradication of LVNC promising, researchers are constantly refining genomic and proteomic analyses through animal models. These studies provide ideas for new therapeutic strategies in the future.…”