Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation

Area of Science:

• Genetics
• Neurology
• Cardiology

Background:

• Missense mutations in the ACTA2 gene lead to systemic smooth muscle dysfunction syndrome.
• ACTA2 cerebral arteriopathy, a cerebrovascular complication, causes ischemic stroke.
• Effective treatments are limited due to the rarity of ACTA2-related disorders.

Observation:

• A 46-year-old woman, the oldest reported patient, presented with ACTA2 cerebral arteriopathy due to the common Arg179His mutation.
• She was diagnosed with multiple systemic smooth muscle dysfunction syndrome and ACTA2 cerebral arteriopathy after a stroke.
• The patient underwent direct triple bypass surgery, which resulted in a postoperative ischemic stroke.

Findings:

• The patient's case represents the oldest reported individual with ACTA2 cerebral arteriopathy.
• Direct bypass surgery was performed, but postoperative complications occurred, indicating challenges with this approach.
• The efficacy and safety of direct bypass are uncertain due to donor artery frailty and poor collateral circulation.

Implications:

• This case expands the known age range for ACTA2 cerebral arteriopathy.
• Direct bypass surgery is a potential, albeit risky, treatment option for progressive multiple strokes in ACTA2 patients.
• Further research is needed to establish effective and safe treatments for this rare genetic disorder.