Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives.

PURPOSE OF REVIEW

To discuss the association of left ventricular hypertrabeculation/noncompaction (LVHT/LVNC/NCCM) with genetic disease and to outline the therapeutic options for non-symptomatic and symptomatic LVHT.

RECENT FINDINGS

A number of new mutated genes have been recently detected being associated with LVHT. There are indications that microtubules changing cell polarity, the transcription factor Nkx2-5, and NOTCH-1 signaling are involved in the pathogenesis of LVHT. There are also indications that the PKC signaling pathway, which is involved in the regulation of gap junction intercellular communication, is disturbed in LVHT. LVHT is the same as LVNC and is associated with pathogenic variants in > 110 mtDNA or nDNA genes. LVHT has been also reported in > 15 chromosomal defects. However, a causal relation between any of these variants and LVHT has not been proven. There is no general agreement on the treatment of LVHT. According to expert opinions, LVHT patients require anticoagulation if they meet the criteria for anticoagulation or an ICD if they meet the appropriate criteria. Heart failure therapy is equal to patients with other causes of heart failure.