A 38-year-old white woman with a history of hypertension and tobacco smoking was admitted for investigation of secondary hypertension. On physical examination, she was found to have a slender Figure and a high-arched palate. Her father died from a ruptured abdominal aortic aneurysm at the age of 65. Laboratory tests showed an elevated serum creatinine level but were otherwise unremarkable, with no protein in urine. Echocardiography showed significant left ventricular hypertrophy (LVH) with the interventricular septum (IVS) of 16 mm. Blood pressure control was achieved on 5 drugs, confirmed using ambulatory monitoring. Initial Doppler ultrasound showed no renal pathology. Subsequently, hormonally active adrenal tumors and obstructive sleep apnea were excluded. Due to reported occipital headaches, computed tomography angiography (CTA) of the head was performed and unruptured aneurysms of the basilar artery (BA) were revealed (Figure 1A). The patient was referred to the department of neurosurgery for further treatment.

Figure 1. A – computed tomography angiography of the head showing fenestration of the basilar artery in the proximal segment with a berry aneurysm at the vertebral artery junction (black arrow) and a berry aneurysm at the basilar artery division (basilar tip) (white arrow); B – narrow, twisted left vertebral artery with the presence of kinking within the distal part of segment V1 (arrow); C – critical stenosis of the right vertebral artery (arrow); D – right common carotid artery with massive thickening of the intima-media-complex along the entire length of the artery (arrow); E, F – right and left renal arteries with irregular lumen, with “string-of-beads” feature characteristic of fibromuscular dysplasia (arrows)

Four months later, digital subtraction arteriography (DSA) revealed aneurysms at the division and fenestration of BA, critical stenosis of the right vertebral artery (VA), and kinking of the left VA (Figure 1B and 1C). Due to suspected acute vasculitis, endovascular treatment was postponed. Follow-up echocardiography revealed significant LVH reduction with IVS of 14 mm.

Two months later, the patient was hospitalized at the department of hypertension. Laboratory tests revealed an accelerated erythrocyte sedimentation rate (66 mm/h; normal range, <⁠12 mm/h) and a low titer of antinuclear antibodies (1:100). To further investigate for systemic disease, blood sample was taken for Illumina DNA Prep with TruSight Cardio Enrichment genetic panel, next-generation sequencing covering 174 genes with known associations to 17 inherited cardiac conditions (https://www.illumina.com/products/by-type/clinical-research-products/trusight-cardio.html). Carotid Doppler ultrasound revealed massive thickening of the intima-media complex (Figure 1D). In addition, CTA showed typical signs of renal artery fibromuscular dysplasia (FMD) (Figure 1E and 1F). No stenoses or aneurysms were found in the other vessels, including the aorta. Positron emission tomography-CT scan excluded active vasculitis.

The patient was readmitted to the department of neurosurgery, where she underwent microcoil embolization of aneurysms of the BA and VA junction. She was discharged 2 days after the procedure in a good condition with the recommendation of a follow-up DSA in 6 months.

Genetic testing revealed a c.5273G>A variant in 1 allele of the myosin heavy chain 11 gene (MYH11), with no other abnormalities. This variant has been described in patients with aortic aneurysms, and its significance has been rated as probably pathogenic.1,2 Unambiguously pathogenic variants of this gene have been associated with familial thoracic aortic aneurysms with autosomal dominant inheritance and incomplete penetrance. Some studies also postulate an association of MYH11 variants with cerebral vascular abnormalities,3,4 but this has not been well documented. It can also be speculated that changes in the carotid and vertebral vessels are the result of FMD.5 Our case provides further evidence of vasculopathy associated with the MYH11 gene variants and the need for broader vascular surveillance in patients with hypertension and suspected FMD. The contribution of the MYH11 gene variants to isolated cerebral arteriopathy remains to be established and requires further research.