Part 8/Chapter 47/5-min read

Fibromuscular Dysplasia and Developmental Renal/Aortic Disorders

Fibromuscular dysplasia framed as a systemic arteriopathy rather than an isolated renal-artery stenosis: cervicocephalic, visceral, renal, and aneurysmal involvement screened together. The chapter frames diagnosis, screening for distant lesions, and selective intervention for FMD and related developmental renal and aortic disorders.

Edited by Tal M. Hörer MD, PhD · David T. McGreevy MD, PhD·Reviewed ·5 sections · 25 references

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Definition and presentation

Fibromuscular dysplasia (FMD) is a complex polygenic systemic arteriopathy, not an isolated renal-artery stenosis . Patients typically present with symptoms referable to multiple vascular territories, most commonly manifesting as renovascular hypertension, spontaneous cervical or intracranial artery dissection, or spontaneous coronary artery dissection (SCAD) .

Confirmed FMD carries a higher prevalence of intracranial, renal, and visceral aneurysms compared with the general population, establishing aneurysm risk as a central component of the disease phenotype . Genetic susceptibility involves risk loci shared with other cardiovascular traits, notably the PHACTR1 locus . Some patients exhibit overlapping physical features of connective-tissue diseases, though FMD remains a distinct polygenic disorder rather than a monogenic syndrome .

Diagnostic imaging and mapping

Imaging strategy defines the systemic arterial phenotype prior to intervention. Modality selection is dictated by patient age, kidney function, and target lesion location. Duplex ultrasound avoids ionizing radiation and contrast but is operator-dependent; computed tomography angiography (CTA) provides high spatial resolution; magnetic resonance angiography (MRA) avoids radiation but provides lower spatial resolution in distal branches . Diagnostic catheter angiography is reserved for cases in which therapeutic intervention is planned simultaneously. The American College of Radiology Appropriateness Criteria guide the selection among these modalities for suspected renovascular hypertension .

Cross-sectional or catheter angiography classifies renal-artery FMD into two distinct morphological patterns, which correlate with underlying histologic subtypes (medial, intimal, and perimedial fibroplasia):

  • Multifocal FMD: alternating areas of fibrous thickening and dilation producing a classic "string of beads" appearance.
  • Focal FMD: a single, short-segment narrowing .

Following diagnosis, baseline surveillance imaging identifies asymptomatic aneurysms across vascular beds. Re-imaging is triggered by the onset of new neurologic or abdominal symptoms .

Treatment decision and intervention logic

The primary indication for procedural intervention in renal FMD is renovascular hypertension in a patient whose anatomy identifies the lesion as a plausible driver. Angioplasty expectations depend on the lesion subtype. Focal lesions demonstrate higher blood-pressure cure rates than multifocal lesions, an outcome partially attributable to younger age at diagnosis and shorter hypertension duration .

Developmental disorders require an expanded intervention framework. Midaortic syndrome (MAS) features concurrent aortic, renal, and visceral stenoses that overlap with FMD pathology . These complex cases require staged open and endovascular reconstruction with branch preservation .

Treatment selection follows a stepwise evaluation of disease extent and symptoms:

  1. Determine baseline therapy. Antiplatelet therapy is used for secondary prevention in patients without bleeding contraindications. Antihypertensive therapy with an ACE inhibitor or ARB treats renovascular hypertension in FMD and is the pathway of choice in older patients or poor angioplasty candidates, with renal function and potassium monitored and caution warranted in bilateral or solitary-kidney disease.
  2. Ascertain intervention status. Symptomatic renovascular hypertension warrants treatment; asymptomatic disease is managed with observation.
  3. Select intervention modality. Endovascular balloon angioplasty is the primary therapy for isolated renal FMD.
  4. Address developmental variants. Midaortic syndrome with concurrent aortic and visceral involvement requires staged open and endovascular reconstruction.
FMD and developmental arteriopathy management

  • Asymptomatic FMD

    Finding or presentation
    Confirmed FMD without hemodynamically significant renovascular hypertension
    Preferred action
    Observation, antiplatelet therapy, and baseline aneurysm screening
    Citation

  • Symptomatic renal FMD

    Finding or presentation
    Focal lesion with renovascular hypertension
    Preferred action
    Balloon angioplasty; higher probability of blood-pressure cure
    Citation

  • Symptomatic renal FMD

    Finding or presentation
    Multifocal lesion with renovascular hypertension
    Preferred action
    Balloon angioplasty; lower probability of complete cure
    Citation

  • Midaortic syndrome

    Finding or presentation
    Concurrent aortic, renal, and visceral stenoses
    Preferred action
    Staged open and endovascular reconstruction
    Citation

Long-term follow-up and pediatric considerations

Follow-up evaluates clinical response independently of anatomic response. Restenosis and incomplete blood-pressure control remain prevalent after angioplasty, meaning a technically successful vessel does not signal completion of care if hypertension or medication requirements persist . Clinical presentation patterns and demographics track through observational registries, such as the US FMD Registry, which establish longitudinal outcomes .

Pediatric presentations of midaortic syndrome, renovascular hypertension, and congenital supravalvular aortic stenosis (SVAS), classically linked to Williams-Beuren syndrome, require durable, lifelong surveillance frameworks. Pediatric and young-adult disease dictates radiation minimization in repeated imaging and necessitates anticipation of multiple reinterventions spanning into adulthood .

Areas of controversy

Specific follow-up intervals and evidence boundaries remain contested. The optimal surveillance intervals for aneurysms in patients with confirmed FMD are derived from registry data rather than being firmly defined by randomized guidelines . Furthermore, the routine use of antiplatelet therapy to reduce dissection and ischemic events is grounded in expert consensus and registry observation, lacking validation from large randomized controlled trials . Finally, data supporting outcomes in midaortic syndrome and pediatric renovascular disease predominantly originate from small single-center and referral cohorts, limiting their direct generalizability to non-referral practices .

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