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CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant

Ehab Harahsheh1, Bukola A Olarewaju2, Deanna M Weaver3

  • 1Department of Neurology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.

Neurogenetics
|November 5, 2025
PubMed

Insights

Genetic alterations in MYBPC3, linked to hypertrophic cardiomyopathy (HCM), can manifest with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-like brain imaging features. Further research is needed to understand these neuroimaging findings in MYBPC3 disorders.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Myosin-binding protein C3 (MYBPC3) gene alterations are established causes of hypertrophic cardiomyopathy (HCM).
  • Neuroimaging characteristics in patients with MYBPC3 alterations are not comprehensively documented.
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small vessel disease with distinct neuroimaging findings.

Keywords:
CADASILCerebralMYBPC3NeuroimagingSmall vesselVasculopathy

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