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<p><i>MYBPC3</i> (Myosin-binding site protein C3) alterations are associated with hypertrophic cardiomyopathy (HCM). However, the neuroimaging features of these patients are not well-described in the literature. We present a unique case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-like neuroimaging features in a middle-aged female, who harbors a heterozygous likely pathogenic splice site variant [c.26–2&#xa0;A &gt; G] in <i>MYBPC3</i> [NM_000256.3]. The patient had negative genetic and electron microscopy test results for CADASIL. Our observations suggest that CADASIL-like cerebral vasculopathy may occur in <i>MYBPC3</i>-related disorders, thus highlighting the need for further characterization of neuroimaging features of patients with <i>MYBPC3</i>-related disorders.</p>

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

  • 期刊论文

  • 发表日期：

    2025年11月5日

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  • Ehab Harahsheh,
  • Bukola A. Olarewaju,
  • Deanna M. Weaver,
  • Nicole J. Boczek,
  • Aimen Vanood,
  • Timothy J. Ingall,
  • Mayowa A. Osundiji

摘要

MYBPC3 (Myosin-binding site protein C3) alterations are associated with hypertrophic cardiomyopathy (HCM). However, the neuroimaging features of these patients are not well-described in the literature. We present a unique case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-like neuroimaging features in a middle-aged female, who harbors a heterozygous likely pathogenic splice site variant [c.26–2 A > G] in MYBPC3 [NM_000256.3]. The patient had negative genetic and electron microscopy test results for CADASIL. Our observations suggest that CADASIL-like cerebral vasculopathy may occur in MYBPC3-related disorders, thus highlighting the need for further characterization of neuroimaging features of patients with MYBPC3-related disorders.