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Left Ventricular Noncompaction Syndrome: Genetic Insights and Therapeutic Perspectives

Josef Finsterer1, Claudia Stöllberger2

  • 1Krankenanstalt Rudolfstiftung, Messerli Institute, Postfach 20, 1180, Vienna, Austria. fifigs1@yahoo.de.

Current Cardiology Reports
|July 11, 2020
PubMed

Insights

Left ventricular hypertrabeculation (LVHT) is linked to over 110 gene variants, though causality is unproven. Treatment for LVHT, also known as left ventricular noncompaction, follows guidelines for heart failure and associated conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left ventricular hypertrabeculation/noncompaction (LVHT/LVNC/NCCM) is a cardiac condition with an increasingly recognized genetic basis.
  • Understanding the molecular pathways involved is crucial for diagnosis and management.

Purpose of the Study:

  • To review the association between LVHT and genetic diseases.
  • To outline current therapeutic strategies for both non-symptomatic and symptomatic LVHT patients.

Main Methods:

  • Literature review of recent findings on LVHT genetics and treatment.
  • Analysis of expert opinions and established clinical guidelines.

Main Results:

  • Over 110 mitochondrial and nuclear DNA genes, along with chromosomal defects, have been associated with LVHT, though direct causation remains unproven.
  • Potential pathogenetic mechanisms involve microtubules, Nkx2-5 transcription factor, NOTCH-1 signaling, and the PKC signaling pathway.
  • Treatment recommendations include anticoagulation or ICD implantation based on specific criteria and standard heart failure management.

Conclusions:

  • LVHT is associated with a wide range of genetic variations, highlighting the need for further research to establish causality.
  • Current therapeutic approaches for LVHT are based on expert consensus and focus on managing symptoms and complications, including heart failure and thromboembolic risk.
Abstract

Keywords:
ChromosomalGeneticsHereditaryHypertrabeculationMyopathyNeuromuscularNoncompaction

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