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A 65 year old housewife presented to our hospital with occasional left chest pains at rest. Bruits were heard from the bilateral carotid, brachial, and lower abdominal area. All arterial pulses of the extremities were noted to be normal and there was no coldness, cyanosis, or ulcer formation of fingers and toes. Although an ECG showed incomplete right bundle block and the Master’s exercise tolerance test was negative, coronary angiography was performed.
Angiography of the right axillary brachial artery was done before coronary angiography because it was difficult to insert a catheter through the right brachial artery. The angiogram showed the characteristic appearance of fibromuscular dysplasia (fig 1). Coronary arteriograms revealed tortuous but normal coronary arteries (fig 2).
Angiogram of the right midbrachial artery shows the long segmental string of beads appearance characteristic of fibromuscular dysplasia.
Coronary arteriograms showing normal coronary vessels that are tortuous without involvement of fibromuscular dysplasia. (A) right coronary artery; (B) left coronary artery.
An abdominal aortography also showed long segmental string of beads appearance of bilateral external and internal iliac arteries with symmetrical involvement (fig 3). Moreover, the bilateral internal carotid, external carotid, and vertebral arteries were segmentally involved in fibromuscular dysplasia. An angiography of the left upper extremities showed the same angiographic appearance, similar to the lesion of the right brachial artery. Systemic fibromuscular dysplasia was finally diagnosed. The patient denied either tobacco abuse or traumatic accidents. She had no history of cerebral stroke or immunological collagen diseases.
An abdominal aortogram shows the string of beads appearance characteristic of fibromuscular dysplasia in bilateral external and internal iliac arteries. The involved lesions of the bilateral iliac arteries are completely symmetrical.
The patient’s 89 year old mother, who had complained of coldness of fingers and toes, especially in winter, for several decades, also had bilateral brachial and abdominal bruits. Brachial arteriographies demonstrated focal segmental beadings with narrowing of the bilateral brachial arteries. The angiographic findings are compatible with fibromuscular dysplasia of the brachial arteries. The patient’s grandfather, uncle, and male cousin died of cerebral infarction, the last from a stroke at a young age.
Mettinger et al extensively reviewed and classified over 1100 cases of fibromuscular dysplasia by location in 1982.1 The renal artery was involved in 58% of patients, the internal carotid and vertebral artery in 32%, the iliac or external artery in approximately 2% of patients, and the coeliac or mesenteric artery in 1% of patients. The first case of brachial artery fibromuscular dysplasia was reported by Keβler in 19822and subsequently 11 other cases have been described; however, there are no reports of familial occurrence of bilateral brachial artery fibromuscular dysplasia.
The aetiology of fibromuscular dysplasia is not well understood, and several hypotheses have been proposed3 ,4; hormonal factors, mechanical trauma, a genetic predisposition, metabolic and immunological factors, as well as intrinsic deficiency of elastic fibres. Fibromuscular dysplasia may represent an acquired developmental vascular disorder affected by various intrinsic and extrinsic factors in patients with hereditary abnormalities of the arterial walls. Several observations of the occurrence of fibromuscular dysplasia in one family5 as well as the present case, strongly support the concept of a genetically transmitted abnormality. Clinical studies analysing the pedigree of several families with fibromuscular dysplasia, suggest that in some cases it is inherited as an autosomal dominant trait with reduced penetrance in males.1 ,3 ,4
In conclusion, we report the findings of fibromuscular hyperplasia of the bilateral brachial arteries in mother and daughter with a family history of cerebrovascular complications. This supports the concept of a genetic abnormality, although familial occurrence of fibromuscular dysplasia is extremely rare. Moreover, the distribution of complete symmetrical involvements of multifocal fibromuscular dysplasia lesions in these cases suggest the possible hereditary nature of the disease.