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

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

doi:10.1007/s10048-025-00861-4

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

Ehab Harahsheh
, Bukola A. Olarewaju
, Deanna M. Weaver
, Nicole J. Boczek
, Aimen Vanood
, Timothy J. Ingall
, Mayowa A. Osundiji (Lead / Corresponding author)

Civil Engineering

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	79
Number of pages	4
Journal	Neurogenetics
Volume	26
Issue number	1
Early online date	5 Nov 2025
DOIs	https://doi.org/10.1007/s10048-025-00861-4
Publication status	E-pub ahead of print - 5 Nov 2025

Keywords

CADASIL
Cerebral
MYBPC3
Neuroimaging
Small vessel
Vasculopathy

ASJC Scopus subject areas

Genetics
Cellular and Molecular Neuroscience
Genetics(clinical)

Access to Document

10.1007/s10048-025-00861-4

Cite this

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

abstract = "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.",

keywords = "CADASIL, Cerebral, MYBPC3, Neuroimaging, Small vessel, Vasculopathy",

author = "Ehab Harahsheh and Olarewaju, \{Bukola A.\} and Weaver, \{Deanna M.\} and Boczek, \{Nicole J.\} and Aimen Vanood and Ingall, \{Timothy J.\} and Osundiji, \{Mayowa A.\}",

note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2025.",

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T1 - CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant

AU - Harahsheh, Ehab

AU - Olarewaju, Bukola A.

AU - Weaver, Deanna M.

AU - Boczek, Nicole J.

AU - Vanood, Aimen

AU - Ingall, Timothy J.

AU - Osundiji, Mayowa A.

N1 - Publisher Copyright: © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2025.

PY - 2025/11/5

Y1 - 2025/11/5

N2 - 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.

AB - 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.

KW - CADASIL

KW - Cerebral

KW - MYBPC3

KW - Neuroimaging

KW - Small vessel

KW - Vasculopathy

UR - https://www.scopus.com/pages/publications/105020894361

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DO - 10.1007/s10048-025-00861-4

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AN - SCOPUS:105020894361

SN - 1364-6745

VL - 26

JO - Neurogenetics

JF - Neurogenetics

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ER -