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Marfan syndrome

An evidence-led atlas of FBN1-related cardiovascular, ocular, and skeletal findings, aortic surveillance, and preventive management.

Marfan syndrome · FBN1-related Marfan syndrome

MONDO:0007947Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 213e71ff0355

Disease class
Marfan syndrome is a systemic connective-tissue disorder affecting the cardiovascular system, eyes, skeleton, and other tissues.
Core mechanism
It is usually caused by a pathogenic FBN1 variant and is inherited in an autosomal-dominant manner.
Genes or cause
Organs involved and severity can vary substantially even within a family.
Typical features
Aortic-root enlargement and dissection risk are major life-threatening complications.
Variability
Lens dislocation, myopia, long limbs, scoliosis, and chest-wall differences can occur.
Diagnosis
Diagnosis integrates aortic, ocular, and skeletal findings, family history, and FBN1 molecular testing under established criteria.
Management
FBN1 variant interpretation requires clinical context; a variant of uncertain significance alone is not diagnostic.
Treatment and research
Echocardiography and, when needed, CT or MRI regularly monitor aortic size and growth rate.
Reading evidence
Beta blockers or angiotensin-receptor blockers are used to reduce the risk of aortic enlargement.
Key caution
Timing of preventive aortic surgery is individualized by diameter, growth rate, family history, pregnancy plans, and other risks.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

Marfan syndrome is a systemic connective-tissue disorder affecting the cardiovascular system, eyes, skeleton, and other tissues.

Aortic-root enlargement and dissection risk are major life-threatening complications.

How the disease works

It is usually caused by a pathogenic FBN1 variant and is inherited in an autosomal-dominant manner.

Organs involved and severity can vary substantially even within a family.

Why experiences vary

Lens dislocation, myopia, long limbs, scoliosis, and chest-wall differences can occur.

Diagnosis and management

Diagnosis integrates aortic, ocular, and skeletal findings, family history, and FBN1 molecular testing under established criteria.

Treatment status

FBN1 variant interpretation requires clinical context; a variant of uncertain significance alone is not diagnostic.

Echocardiography and, when needed, CT or MRI regularly monitor aortic size and growth rate.

Reading clinical trials

Intense isometric and collision sports are limited according to aortic status, with safe activity individualized.

Topics for a clinical visit

Clinical discussion should cover current aortic dimensions and growth, medicines, activity and pregnancy plans, family testing, and emergency dissection symptoms.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.