Cardiovascular

Prevalence of aortic findings among patients with multifocal fibromuscular dysplasia (FMD) seen at a specialised referral centre.

TL;DR

Aortic findings, predominantly presenting as thoracic ectasia or aneurysm, were identified in 10% of patients with multifocal FMD and complete aortic imaging seen at a single specialised referral centre.

Key Findings

Aortic involvement was identified in 10.0% of patients with multifocal FMD who had complete aortic cross-sectional imaging.

  • 36 of 360 patients had aortic involvement (10.0%; 95% CI 7.3% to 13.5%)
  • The study was a single-centre, retrospective chart review conducted from January 2019 to July 2024
  • 360 patients were included, of whom 353 (98.1%) were female
  • All patients were ≥18 years with complete aortic cross-sectional imaging

The most common aortic finding was ectasia, followed by aneurysms, congenital anomalies, and acute aortic syndromes.

  • 17 patients (4.7%) had aortic ectasia
  • 8 patients (2.2%) had aortic aneurysms
  • 9 patients (2.5%) had congenital anomalies
  • 3 patients (<1%) had acute aortic syndromes
  • No aortic stenosis was found in any patient

All aortic aneurysms and ectasias were located in the proximal thoracic aorta.

  • Eight aneurysms were located at the aortic root
  • All 17 ectasias were in the ascending aorta
  • No abdominal aortic aneurysms or ectasias were identified
  • Thoracic aortic diameter threshold for aneurysm was ≥4 cm; abdominal threshold was ≥3 cm

The most frequent congenital aortic anomaly identified was aberrant right subclavian artery.

  • Of nine congenital anomalies, seven were aberrant right subclavian artery
  • One patient had ductus diverticulum
  • One patient had coarctation of the aorta
  • Congenital anomalies accounted for 2.5% of the total study population

Among patients with aortic involvement, genetic testing for aortopathies was uniformly negative.

  • Nine of the 36 patients with aortic involvement underwent clinical genetic testing for aortopathies
  • All nine genetic tests were negative
  • Four patients (11.1%) with aortic involvement had a family history of aneurysm
  • Two patients (5.6%) with aortic involvement had a family history of dissection

Male sex and presence of non-aortic arterial aneurysms were more common among patients with aortic involvement compared to those without.

  • Three of 36 patients with aortic involvement (8.3%) were male, compared to 4 of 324 without aortic involvement
  • Patients with aortic involvement were more likely to have non-aortic arterial aneurysms
  • The overall cohort was 98.1% female, reflecting the known demographic predominance of FMD in women

The findings support recommendations for head-to-pelvis imaging in patients with FMD.

  • The authors state findings 'support recommendations for head-to-pelvis imaging for patients with FMD'
  • The study highlights 'the need for further research into the genetic and systemic aspects of this disease'
  • The extent of aortic involvement in FMD was previously described as uncertain
  • The study was conducted at a specialised referral centre, which may influence prevalence estimates

What This Means

Fibromuscular dysplasia (FMD) is a disease affecting medium-sized blood vessels that is not caused by cholesterol buildup. It primarily affects women and can cause beading, narrowing, ballooning (aneurysms), or tearing of arteries. This study looked at whether FMD also affects the aorta — the body's largest blood vessel — by reviewing medical records and imaging from 360 FMD patients seen at a specialized center over about five years. Researchers found that 1 in 10 patients had some form of aortic abnormality, most commonly mild enlargement (ectasia) or aneurysm of the upper portion of the aorta near the heart. A small number had congenital (present from birth) variations in aortic anatomy, and fewer than 1% had serious acute aortic events. This research suggests that aortic involvement in FMD is more common than previously recognized and tends to occur in the thoracic (chest) region rather than the abdominal region. Notably, genetic testing for known aortic diseases came back negative in all patients who were tested, suggesting the aortic changes seen in FMD patients may be part of the underlying FMD disease process rather than a separate inherited condition. Male patients and those with aneurysms in other arteries were more likely to have aortic involvement. These findings have practical implications for how FMD patients are monitored. The study supports current recommendations that FMD patients receive imaging that covers the entire body from head to pelvis, so that aortic abnormalities are not missed. The authors also call for more research into the genetic and systemic nature of FMD, as the reasons why some patients develop aortic changes remain unclear.

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Citation

Ji K, Dejanovic D, Murphy J, Gornik H. (2026). Prevalence of aortic findings among patients with multifocal fibromuscular dysplasia (FMD) seen at a specialised referral centre.. Open heart. https://doi.org/10.1136/openhrt-2026-004253