Marfan's Syndrome Term Paper

Pages: 13 (3574 words)  ·  Bibliography Sources: 6  ·  File: .docx  ·  Level: College Senior  ·  Topic: Anatomy

Marfan syndromme is a multisystem disease with variable genotypic and phenotypic appearance. There is overlap in clinical presentation with other multisystem diseases that often may lead to misdiagnosis. Consequently because of its diverse clinical features diagnosis is challenging and necessitates a multidisplinary approach. Genetic counselling is costly, involves a lot of time consumption and does not offer a solution for the diagnostics predication. Therefore failure to make a diagnosis has social as well as medical repercussions for the individual as well as his family.

Marfan syndrome is a genetic disorder of connective tissue that is inherited as an autosomal dominant disease. The spectrum of this multisystem disease mainly but not exclusively affects the musculoskeletal, the ocular and the cardiovascular systems.

The disease is a fibrinllinopathy that results from defective synthesis of fibrillin 1. The gene coding for this protein FBN1 was localized to chromosome 15q21 among the human species. However another gene MSF2 located at chromosome 3p25 has been implicated.

Marfan affects 1 in 1000 (Pyeritz et al. 1981). In the United States of America it is estimated that at least 200000 people suffer from it or related connective tissues disorders. This makes it one of the most common single gene malformations. The is no geographical distributions and it affects people of all races.

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The earliest recordable history of this disease dates back to 1986 when a Paediatric Professor Antoine Marfan, presented the case of a 5-year-old girl to the Societe Medicale des Hapitaux de Paris (Marfan; 1896). The child Gabrielle P. had conspicuous abnormalities of her skeletal system that developed till the time of her demise probably from tuberculosis. (Marfan, 1938)

Term Paper on Marfan's Syndrome Assignment

It cannot be proved whether or not Gabrielle suffered from Marfan syndrome. Veritably she may have been suffering from congenital contractual arachnodactly. (Hecht and Beals, 1972). During the 20th century further phenotypical manifestations of Marfan's syndromme were discovered. For example ectopia lentis (Borger, 1914), the fact that inheritance is autosomal dominant (Weve, 1931). Aortic dissection as part of the cardiovascular involvement (Etter and Glover1943). Dilatation (Baer et a1., 1943). Involvement of mitral valve prolapse (Brown et al., 1975; ) and Ectasia of the dura (Pyeritz et al., 1988). The gene associated with Marfan syndromme was identified by Francesco Ramirez in 1991 at the Mount Sinai Medical centre in New York.

Until recently the diagnosis of Marfan's syndrome relied on a clinical criteria developed in 1986 in Berlin. It is commonly known as the Berlin Nosology or Berlin Criteria (Beighton et al., 1988). Because the Berlin Criteria did not provide for molecular data and led to misdiagnosis of relatives who were unaffected a new criteria, the Ghent criteria was devised in 1995. Diagnosis of Marfan syndrome is in evolution. Existing criteria are in constant revision based on a workshop that took place in 2007 in Brussels Belgium. This paper is going to discuss the diagnostic challenge of Marfan syndromme.


Marfan syndromme is a multisystem disease that involves the skeletal, cardiovascular, ocular, pulmonary and the skin and integumentary system. The skeletal system involves a disproportion of the limbs and digits. A condition scientifically known as dolichostenomelia. This is more marked by the concomitant underdevelopment of muscle and fat. Sufferers of this syndromme characteristically appear very tall and thin with broad arms. Abnormalities of the limb length are measured as a ratio of the upper segment to the lower segment. The lower segment involves measurement from the floor to the top of the symphsis pubis while the upper segment is obtained by subtracting the lower segment from the total height. In the normal adult population this ratio is 0.93. However is a patient with Marfan's it is 0.85.

Arachnodactly or spider web fingers is another salient feature of skeletal abnormalities linked to marfan's. Clinically this is assessed by the Walker- Murdoch Thumb sign. The index finger and the thumb encircle the contra lateral wrist with overlap of the distal phalanges. Deformities of the anterior chest commonly known as pes excavatum or a funnel shaped chest. The converse pes carinatum or protrusion of the chest may also appear as a presentation. Hyper mobility of joints is a common trait as well. Often it is exaggerated in the arms and presents as flat foot in the feet. Spinal scoliosis of greater than 20 degrees or sideways curvature of the vertebral column is another skeletal manifestation. ( Sponseller et al. 1995) it is often complex and is characterised with the disappearance of the dorsal kyphosis leading to a flat back. In addition there are asymptomatic basilar impressions, atlantoaxial subluxation and lumbar spondilolysthesis.( Jean Marie Le Parc, 2003) craniofacial abnormalities are another manifestation. Malar hypoplasia, anterior posterior axis dolicocephalia and micrognathia. On clinical assessment of the mouth an arched palate is often found, crowding of the teeth and extreme maxillary ovejet ( overbite). About 70% of patients require treatment at an orthodontist. (Westling et al., 1998) Protrusio acetabuli or protrusion of the acetabular is also present . It is a malpresentation of the hip joint where the medial wall of the acetabulum invades the pelvic cavity with associated medial displacement of the femoral head. And This is assessed using radiography. It affects 31-100% of patients to varying degrees ( Sponseller et al., 1995) Clinical presentation include hip joint stiffness and gradual limitation in activity related to joint pain, a waddling gait, restricted range of motion, flexion contracture, a pelvic tilt leading to hyperlordosis of the lumbar spine, and finally osteoarthritic changes. The consequence is early hip pain and osteoarthritis Neuromeningeal involvement in form of dural ectasia or dilation of the dural sac is not a skeletal manifestation in strict terms. However its ramifications primarily affect the spine often leading to lumbar scalloping.

92% of patients were found to have dural ectasia (Fattori et al. 1999) Magnetic resonance imaging and CT scan was found to have high sensitivity and specificity in its diagnosis ( Ahn et al. 2000).

Cardiovascular system involvement is the most serious complication related to Marfan's syndromme. It presents with dilation of the aortic root and involves dilatation of the sinuses of valsalva. Its prevalence is about 70-80%. The major life threatening complications are aortic root dilatation and aortic dissection. Baer et al. (1943) and Etter and Glover (1943). A third of the patients were found to have prolapse of the mitral valve mitral enlargement of the aortic root or a combination of both on echocardiography this was despite normal auscultatory finding on clinical examination. ( Brown et al., 1975) Manifestation is at an early age and is more common in men than it is in women. Other features include dilation of the main pulmonary artery and the descending abdominal aorta. Calcification of the mitral annulus. The prevalence of ventricular and supraventricular arrhythmias also seems to be higher in patients with Marfan's syndromme than in the general population.

With regard to ocular manifestation the major presentation is ectopia lentis. This is a subluxation or malposition of the lens of the eyes. Commonly known as subluxation the lens is displaced in a supero- temporal direction. Presentation may be at Birth or may develop during childhood or adolescence. Other manifestations include a flat cornea. An increase in the axial length of the globe. Formation of cataracts or opacification of the lens. Detachment of the retina, near sightedness and Glaucoma or increase in intraocular pressures. Involvement of the skin and integumentary system is manifested as striae atrophicae or stretch marks in the absence of weight gain. Manifestations of the pulmonary system include spontaneous pneumonthorax or air in the chest cavity and multiple pneumonic blebs found on chest radiograph (Yellin et al., 1991).


The clinical diagnosis of Marfan syndromme has progressive changed throughout the years. Both clinical criteria and molecular criteria are used in the correct diagnosis of Marfan syndromme. The first tool used for diagnosis was the Berlin Nosology or Criteria.

(Beighton et al. 1988.) This criteria was laid out during the 7th International Conference on Human Genetics workshop that was held in Berlin. It was composed of Major criteria. These were composed of features that were not commonly found in the general population and therefore carried a lot of weight in diagnosis. Minor criteria involved features that were common in the general population and that could also be confused with conditions that mimicked Marfan. The Berlin Nosology stated that in the absence of an unequivocally affected first-degree relative, one should require involvement of the skeleton and at least 2 other systems with a minimum of 1 major manifestation (ectopia lentis, aortic dilatation or dural ectasia). In the presence of an unequivocally affected first-degree relative, one requires only that 2 organ systems be involved. The Berlin Nosologogy had 6 systems. The skeletal, the cardiovascular, the ocular, the pulmonary, the Skin and Integumentary and the central nervous systems . There were only 2 major criteria Ectopia of the Lens in the ocular system and aortic dilation or aortic dissection in the cardiovascular system. Other criteria were classified as minor criteria across the six systems.… [END OF PREVIEW] . . . READ MORE

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APA Style

Marfan's Syndrome.  (2010, June 29).  Retrieved June 22, 2021, from

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"Marfan's Syndrome."  June 29, 2010.  Accessed June 22, 2021.