A Rare Heterozygous MYH11 Missense Variant in a Patient With Recurrent Strokes, Intracerebral Arterial Pathology, and Aortic Aneurysm

We present a patient with complex cerebral and arterial pathology found to have a rare heterozygous myosin heavy chain 11 (MYH11) missense variant. A 58-year-old male was seen after recurrent strokes at ages 43, 52, and 55. Brain magnetic resonance angiography (MRA) showed five outpouchings or small aneurysms arising from the intracranial internal carotid arteries (ICAs), a larger basilar artery aneurysm, and severely stenotic segments of several intracranial arteries. Brain magnetic resonance imaging (MRI) showed a mixture of small and large artery old infarcts and white matter disease. The descending thoracic aorta and the abdominal aorta were both aneurysmal on computerized tomography angiography. Whole exome sequencing (WES) identified a rare heterozygous MYH11: c.3818G>T, p.(Arg1273Leu) missense variant. This case report highlights the risk for vascular abnormalities, including cerebrovascular disease, in MYH11 pathogenic variants and underscores the importance of vigilant monitoring and early prophylactic interventions for stroke prevention in this patient population.