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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene

Roman Myasnikov1, Anna Bukaeva1,2,3, Olga Kulikova1

  • 1National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.

Genes
|February 25, 2022
PubMed

Insights

Left ventricular noncompaction (LVNC) is a rare heart muscle disorder. A familial case linked LVNC to a novel FHOD3 gene variant, revealing new insights into its pathogenesis.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left ventricular noncompaction (LVNC) is a primary myocardial disorder with heterogeneous clinical and genetic features, often overlapping with hypertrophic cardiomyopathy.
  • Accurate diagnosis relies on understanding genotype-phenotype correlations to differentiate it from other cardiomyopathies.

Observation:

  • A familial case of LVNC presented with significant complications including arrhythmias, thrombotic events, myocardial fibrosis, and heart failure.
  • This specific case showed cosegregation of these clinical manifestations with a splicing variant in the FHOD3 gene.

Findings:

  • This study identifies a novel association between FHOD3 gene splicing variants and the development of LVNC.
  • This is the first reported instance of FHOD3-dependent LVNC, expanding the known genetic spectrum of the disease.

Implications:

  • The findings suggest FHOD3 plays a critical role in myocardial development and integrity.
  • Understanding FHOD3's role in LVNC pathogenesis can lead to improved diagnostic precision and potential therapeutic strategies.
  • This research highlights the importance of genetic analysis in complex cardiomyopathies.

Keywords:
FHOD3dilated cardiomyopathyexon skippingheart failurehypertrophic cardiomyopathyintramyocardial fibrosisleft ventricular noncompaction

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