RNF213 vasculopathy manifested in various forms within a family: A case report

Area of Science:

• Genetics
• Cardiology
• Neurology

Background:

• The RNF213 p.R4810K variant is associated with Moyamoya disease (MMD), prevalent in East Asian populations.
• This variant has also been implicated in coronary artery disease (CAD).

Observation:

• A 36-year-old female presented with unstable angina and underwent percutaneous coronary intervention.
• A family history of MMD and the presence of the RNF213 p.R4810K variant in her sister prompted genetic evaluation.
• The patient was found to have the same RNF213 p.R4810K heterozygous variant.

Findings:

• Genetic testing confirmed the RNF213 p.R4810K heterozygous variant in the patient, consistent with her sister.
• Coronary artery disease was attributed to the RNF213 p.R4810K variant.
• An RNF213 p.C4397R variant of uncertain significance was also identified.

Implications:

• This familial case demonstrates that a single genetic mutation can lead to diverse vascular manifestations.
• It underscores the need for systemic vessel screening in individuals with MMD-associated genetic variants.
• Consideration of broader vascular assessments beyond cerebral vessels is crucial for MMD-related genetic conditions.