Marfan Syndrome

We use cookies to give you the best experience possible. By continuing we’ll assume you’re on board with our cookie policy

Marfan’s disease is inherent collagenopathy or systemic incompetence of connective tissue. The abnormality manifests with skeletal, cardiovascular and ocular complaints. The syndrome occurs with a frequency of 1 case per 10-20 thousand people, race and sex do not matter. Marfan’s syndrome is inherited from parents in 75% of cases, and in 25% it is the aftermath of mutations. The risk to bear a child with Marfan syndrome grows with the age of the father, precisely after 35 years.

What Cause Marfan Syndrome?

Marfan syndrome refers to congenital anomalies with autosomal-dominant inheritance. The underlying condition of the incompetence is the mutation of the FBN1 gene, which is answerable for the synthesis of fibrillin, the constructive protein of the intercellular matrix, which allows resilience and contractility of the connective tissue. In 5%, mutations are found in genes encoding the synthesis of α2-chains of collagen, provoking the disease with mild disease. The histological disorders affected the walls of the vessels and the ligamentous apparatus (first of all, the aorta and the suspensory ligament of crystalline lens containing the greatest amount of fibrillin).

Marfan Syndrome Symptoms

People with the Marfan syndrome are much higher than average, have an asthenic constitution. Sings of Marfan Syndrome are long and thin fingers, disproportionately long limbs. The skull is elongated, eyes are deep-set, jaw is small; high gothic palate, abnormal growth of teeth are discovered.

Clinical symptoms of the Marfan syndrome are divided into groups that reflect the exact localization of signs of connective tissue dysplasia:

  • Osteoarticular disorders: asthenic constitution; narrow facial skull; flat feet; keel or foveated chest; spider fingers; deformation of the spine.
  • Changes in soft tissues: low body weight, muscle hypotension, hypoplasia of subcutaneous fat and sinews.
  • Perversion of the viscera: aneurysms of ascending aorta, pulmonary artery or Valsalva sinus; valve prolapse, pendulous heart; decreased lung lobe; long and immature bowel;
  • Vision impairment: blue sclera; farsightedness; myopia; subluxations of the lens; aplasia lentis.
  • Disturbance of the CNS: different pupillary diameter; nystagmus; motor dysfunction.
  • Endocrine disorders: diabetes insipidus; precocious puberty.
  • Disorders of the cardiovascular system: signs of myocardial hypertrophy; aortic or mitral insufficiency; mitral valve prolapse; dilation of aortic root; bicuspid aortic valve, etc.
  • Children with the Marfan disease are hyperactive, nervous and irritable, have excessive self-esteem, react painfully to the slightest irritants.
  • Intellect due to the high concentration of epinephrine and cortisol is higher than the average.


Diagnosis of Marfan disease is based on family history, severity of sings, physical examination, the results of functional, radiologic, ophthalmological and genetic studies, ECG and Echocardiography, and laboratory tests:

  • The phenotypic diagnostic tests register the ratio of the wrist and height, the wrist circumference, the length of the middle finger, the Varga index, the probes for hypermotility;
  • ECG determines heart rhythm disturbances, myocardial hypertrophy.
  • EchoCG detects ectasia of the aorta, valvular regurgitation, mitral valve prolapse, enlargement of the left ventricle, ruptured chords;
  • Chest X-ray reveals the expansion of the arch of the aorta and root, enlargement of the heart size;
  • Radiography of the hip joints displays protrusion of the coxal cavity;
  • CT and MRI of the heart and vessels are done to reveal dilatation and aortic aneurysms;
  • MRI of the spine shows dilatation of the dura mater;
  • Aortography is performed with suspected aneurysm and aortic dissection;
  • Biomicroscopy and ophthalmoscopy show ectopic lens;
  • Genetic identification reveals mutations in the FBN1 gene.


Nursing and further observation of patients with Marfan disease should be carried out by a team of specialists: an ophthalmologist, a cardiologist, a heart surgeon, an orthopedist, a geneticist, and a neuropsychiatrist.

Treatment of patients with Marfan syndrome is aimed at preventing the advance of the disease and the onset of complications:

  • β-blockers, calcium antagonists or ACE inhibitors are prescribed to maintain cardiac function.
  • Surgical repair is performed with a failure of the heart valves, prolapse, significant expansion of the ascending part and aortic dissection. Reconstructive surgery on the aorta with Marfan syndrome has a high percentage of postoperative 5-year and 10-year survival. If necessary, surgeons fit a prosthesis valves.
  • Pregnant women with Marfan syndrome and severe cardiovascular pathology are given early surgical delivery by caesarean section.
  • Vision correction is performed with eyeglasses and contact lenses, if necessary laser or surgical treatment of cataracts, glaucoma, and removal of the displaced lens with implantation of the artificial lens are done.
  • Surgical repair of a backbone, a thoracoplasty, or an endoprosthesis replacement of hip joints are required.
  • Pathogenetic nootropic, metabolic and vitamin therapy are used as well.

Prognosis and Prevention

The prognosis of survival rate is determined by the degree of cardiovascular dysfunction, as well as weakness of the osseous system and eyes. There is a high risk of sequela, a decrease in life expectancy (90-95% do not live up to 40-50 years) and sudden death. Surgical repair improves the duration (up to 60-70 years) and the life quality of patients.

Emergency Accidents

Whereas aortic disruption is very rare in children, call a physician if you feel chest pain, irregular heartbeat, shortness of breath, sudden weakness or tingling in the legs and hands. Pay attention to the behavior changes.


  • De Paepe, Anne, et al. “Revised diagnostic criteria for the Marfan syndrome.” American Journal of Medical Genetics Part A 62.4 (1996): 417-426.
  • Dietz, Harry C., et al. “Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.” Nature 352.6333 (1991): 337.
  • Pyeritz, Reed E., and Victor A. McKusick. “The Marfan syndrome: diagnosis and management.” New England Journal of Medicine300.14 (1979): 772-777.

David from Healtheappointments:

Hi there, would you like to get such a paper? How about receiving a customized one? Check it out