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Marfan syndrome

Última revisión: 16 Aug 2025
Última actualización: 14 Jan 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • family history of Marfan disease
  • tall stature
  • wide arm span
  • high level of pubic bone
  • high arched palate
  • arachnodactyly
  • positive wrist sign
  • positive thumb sign
  • pectus excavatum (funnel chest)
  • pectus carinatum (pigeon breast)
  • scoliosis
  • flat feet (pes planus)
  • dislocated/subluxed eye lens
  • myopia and/or astigmatism
  • retinal abnormalities
  • joint hypermobility
  • aortic valve murmur
  • mitral valve murmur
  • history of treatment for dental crowding
  • history of myopia and/or astigmatism
  • reduced elbow extension
Todos los datos

Otros factores de diagnóstico

  • glaucoma
  • history of spontaneous pneumothorax
  • striae
  • low back ache
  • joint pain
  • inguinal/abdominal/incisional hernias
  • dyspnea
  • signs of heart failure
Todos los datos

Factores de riesgo

  • family history of Marfan syndrome
  • family history of aortic dissection or aneurysm
  • high paternal age
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • echocardiography
  • slit-lamp eye exam with intraocular pressure measurement
  • CT scan, thorax
  • MRI, thorax
Todos los datos

Pruebas diagnósticas que deben considerarse

  • blood screening for fibrillin-1 (FBN-1) gene mutation
  • CXR
  • CT scan, abdomen
  • MRI, abdomen
  • ultrasound, abdomen
  • CT scan, lower spine
  • MRI, lower spine
  • plasma homocysteine
Todos los datos

Algoritmo de tratamiento

Agudo

aortic dilation meeting the indications for surgery

retinal tear

retinal detachment

En curso

aortic dilation not meeting indications for surgery or following aortic surgery

myopia

lens subluxation/dislocation

cataract

scoliosis/kyphoscoliosis

severe pectus excavatum/carinatum with evidence of cardiopulmonary compromise

arthropathy and/or spondylolisthesis

Colaboradores

Autores

Anne Child, MD, FRCP

Medical Director Marfan Trust

Honorary Consultant Royal Brompton Group GSTT NHS Foundation Trust

Keston

Kent

UK

Disclosures

AC is an author of several references cited in this topic but has no competing interests.

Acknowledgements

Dr Anne Child would like to gratefully acknowledge Dr Aman Chandra and Dr Maite Tome, the previous contributors to this topic. Dr Anne Child and Dr Aman Chandra would also like to thank Anna Apara for her work on this topic.

Disclosures

AC, MT, and AA declare that they have no competing interests.

Peer reviewers

Daniel Judge, MD

Assistant Professor of Medicine

Medical Director

JHU Center for Inherited Heart Disease

Johns Hopkins Hospital

Baltimore

MD

Disclosures

DJ declares that he has no competing interests.

Reed E. Pyeritz, MD, PhD

Professor of Medicine and Genetics

University of Pennsylvania

Philadelphia

PA

Disclosures

REP declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. Abstract

Isselbacher EM, Preventza O, Black JH 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Dec 13;146(24):e334-482.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Marfan syndrome images
  • Differentials

    • Aortic dissection not associated with Marfan syndrome
    • Bicuspid aortic valve
    • Ehlers-Danlos syndrome
    More Differentials
  • Guidelines

    • Guideline for the diagnosis and management of aortic disease
    • 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases
    More Guidelines
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