ABC Medical Center > Diseases > Marfan syndrome

What is marfan syndrome?

4 May 2021

It is a genetic disease that damages the connective tissue fibers that support and unite the various body parts and organs, causing cardiac, skeletal, ocular, and vascular damage both in men and women.

Marfan syndrome appears due to an abnormality in the gene called fibrillin-1, responsible for providing strength and flexibility to connective tissue.

Children with one of the parents with this anomaly are 50% more likely to develop this condition, this being the greatest potential risk.

Among the main characteristics of this disease are:

  • Extremely long arms, legs, hands, and feet.
  • Curved spine.
  • Teeth close together.
  • Tall and slim build.
  • Sunken or prominent sternum.
  • Extreme myopia
  • Elevation and arching of the palate.
  • Flatfoot.
  • Heart murmur.

Marfan syndrome mainly affects the heart and blood vessels by weakening the aorta, which is the main artery that carries blood to the body, causing heart failure, valve damage, blood vessel rupture, or an aorta aneurysm, which can endanger the person’s life.

It can also cause various eye complications, such as:

  • Ectopia lentis.
  • Retinal detachment.
  • Glaucoma.
  • Cataracts.

It can also cause scoliosis and abnormal rib development, among other bone problems.

Diagnosis and treatment Marfan syndrome

Marfan syndrome is a disease that makes its diagnosis difficult because various connective tissue disorders have similar symptoms. However, the studies that your doctor will request, once they have performed a physical examination and analyzed your symptoms and medical history, will be genetic tests and studies such as:

  • Echocardiogram.
  • Chest x-ray.
  • MRI.
  • Computed tomography.

Eye exams will also be necessary to check for the presence of cataracts, retinal detachment, glaucoma, or lens dislocation.

Although Marfan syndrome is not curable, the general treatment is to avoid complications and damage progress. For this, continuous medical check-ups and the intake of medications that help keep low blood pressure will be required to reduce any tension in the aorta.

Depending on how advanced the disease is and if your doctor deems it necessary, you may need to have surgery to replace the aortic valve or prevent a possible aorta rupture.

In the case of eye problems, they can be corrected with glasses or contact lenses, but if the retina has detached or you have cataracts, you will have to undergo surgery to correct these anomalies.

If the affectation is in the skeletal system, depending on the situation, you may require orthopedic devices, physical and rehabilitation therapies, or surgery if it is severe scoliosis or to correct sternum malformations.

At the ABC Medical Center Internal Medicine Department we offer health care services with the highest quality and safety, from prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, of chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Related centers and departments Marfan syndrome

Internal medicine
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • mayoclinic.org
  • medlineplus.gov
  • msdmanuals.com
  • fundaciondelcorazon.com
  • aao.org
  • medigraphic.com
  • Geroy MER, Quiñones HM, Acosta HA. Síndrome de Marfan: a propósito de dos casos. Finlay. 2020;10(1):62-72.
  • Moya-Jiménez S, Lozano-Corona R, Gómez-Ríos N, et al. Tratamiento híbrido multinivel de la afección cardiovascular en el síndrome de Marfan. Rev Mex Angiol. 2016;44(3):99-105.
  • Santos PLA, González FE, Milián HCG. Síndrome de Marfan. Reporte de un paciente. Acta Med Cent. 2015;9(4):46-51.
  • Martínez GG, Rodríguez LG. Síndrome de Marfan en edad adulta: a propósito de un caso. CorSalud. 2014;6(4):341-345.

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