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Marfan syndrome

What's new

Updated 2024 EACTS/STS guidelines for the management of aortic disease in Marfan syndrome.

Background

Overview

Definition
MS is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, primarily resulting from mutations in the FBN1 gene on chromosome 15.
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Pathophysiology
MS is primarily caused by mutations in the FBN1 gene, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the perichondrium, and structures in the eye. These mutations lead to a deficiency or dysfunction of fibrillin-1, disrupting the formation and function of microfibrils in the extracellular matrix. This disruption results in structural abnormalities in various body systems, particularly the skeletal, ocular, and cardiovascular systems.
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Epidemiology
MS is a rare condition with a worldwide prevalence estimated at 15 per 100,000 population. In Europe, the incidence is estimated at 25 per 100,000 person-years in 2021.
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Disease course
It is a multisystem disorder that primarily affects the skeletal, ocular, and cardiovascular systems. Skeletal manifestations include overgrowth of the long bones, resulting in tall stature and disproportionately long limbs and fingers. Other features can include craniofacial characteristics, high-arched palate, positive thumb and wrist signs, scoliosis, and pectus excavatum. Ocular complications often involve dislocation of the ocular lens (ectopia lentis), which can lead to visual impairment. Cardiovascular issues are the most serious and life-threatening aspect of MS, including aortic root aneurysms, aortic dissections, and mitral valve prolapse.
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Prognosis and risk of recurrence
The prognosis largely depends on the severity of cardiovascular complications, which are the primary cause of morbidity and mortality.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Marfan syndrome are prepared by our editorial team based on guidelines from the Society of Thoracic Surgeons (STS/EACTS 2024), the American Heart Association (AHA/ACC 2022), the American Association for Thoracic Surgery (AATS 2021), the European Society of Cardiology (ESC 2021,2014), the European Society of Cardiology (ESC/EACTS 2021), the Canadian Cardiovascular ...
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Diagnostic investigations

Aortic imaging
As per ACC/AHA 2022 guidelines:
Obtain a TTE at the time of initial diagnosis to determine the diameters of the aortic root and ascending aorta, and 6 months thereafter to determine the rate of aortic growth in patients with MS. Obtain an annual surveillance TTE if the aortic diameters are stable. Obtain CT or MRI of the thoracic aorta if the aortic root, ascending aorta, or both, are not adequately visualized on TTE.
B
Consider obtaining CT or MRI of the thoracic aorta to confirm the aortic diameters and assess the remainder of the thoracic aorta after an initial TTE in adult patients with MS.
C
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Medical management

Antihypertensive medications
As per ACC/AHA 2022 guidelines:
Initiate either β-blockers or ARBs in maximally tolerated doses (unless contraindicated) to reduce the rate of aortic dilation in patients with MS.
A
Consider initiating both a β-blocker and an ARB in maximally tolerated doses (unless contraindicated) to reduce the rate of aortic dilation in patients with MS.
C

Nonpharmacologic interventions

Physical activity: as per EACTS/STS 2024 guidelines, educate patients about the specific risks and benefits of exercise.
B
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Surgical interventions

Aortic aneurysm repair: as per EACTS/STS 2024 guidelines, perform surgery on the aortic root or ascending aorta at a diameter of ≥ 50 mm in patients with MS.
B
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More topics in this section

  • Aortic aneurysm repair (ECS)

  • Aortic root replacement

  • Aortic valve repair

Specific circumstances

Pregnant patients: as per EACTS/STS 2024 guidelines, perform aortic repair before pregnancy in patients with Marfan's syndrome with an aortic root diameter of ≥ 45 mm.
B