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Marfan syndrome

Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures—including the skeleton, lungs, eyes, heart and blood vessels—in less obvious ways. It is named for Antoine Marfan, the French pediatrician who first described it in 1896. more...

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Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin , which is essential for the formation of elastic fibres found in connective tissue. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding of Marfan syndrome in humans.

Although genetic testing is available, a diagnosis is usually made solely on clinical findings. Most individuals with Marfan syndrome have another affected family member, but about 30 percent of cases are due to genetic mutations (de novo). Genetic counseling is available for families who may be at risk for Marfan syndrome.

Estimates indicate that perhaps 1 in 10,000 people (0.01 percent of the population) has Marfan syndrome. There is no cure, but effective treatment allows many people with the disorder to live normally. It affects all races and sexes equally.


The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue tiredness. Another complication is aortic aneurysm.

Marfan syndrome sufferers may grow to larger than normal height, and typically have long, slender limbs and fingers. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. In addition to affecting height and limb proportions, Marfan syndrome may produce other skeletal symptoms. Curvature of the spine (scoliosis) is a common problem, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. These symptoms may in turn cause unusual pressure on the heart and lungs. Other symptons include; abnormal joint flexibility, high palates, flat feet, stooped shoulders, and dislocation of the optic lens.

Nearsightedness or myopia is a common condition associated with Marfan syndrome. In addition, the weakening of connective tissue often causes detachment of the retina and/or displacement of the lens in one or both eyes.


The heart conditions related to Marfan syndrome may not necessarily produce obvious symptoms. As a result, regular checkups by a cardiologist are needed to monitor cardiovascular health. Potential problems may be detected through echocardiography, which involves the use of ultrasound to study the heart valves and the aorta. Beta blockers have been used to control some of the complications such as aortic aneurysms. If the dilation of the aorta threatens to lead to rupture a composite aortic valve and graft may be implanted. Although aortic graft surgery is a serious undertaking it usually results in a good outcome and a satisfactory quality of life. Elective aortic valve/graft surgery is usually considered when aortic dilatation reaches 50 millimeters, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common. Rupture of the aorta, or aortic dissection, is the most common cause of sudden death among Marfan syndrome sufferers.


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Infantile Marfan Syndrome—A 5 Week Old With Unusual Pulmonary Manifestations
From CHEST, 10/1/00 by Sharon Calaman

Sharon Calaman MD, A Jacobs MD, G Crooke MD, A Racine MD, PhD, J Glickstein MD, J Weingarten-Arams MD FCCP--Department of Pediatrics, Divisions of Pediatric Critical Care & Pulmonary Medicine and Cardiology, Department of Cardiothoracic Surgery, Albert Einstein College of Medicine, Children's Hospital at Montefiore, Bronx, NY

Introduction: Marfan syndrome is a disorder of connective tissue characterized by variable phenotypes and autosomal dominant inheritance with frequent spontaneous mutation. Marfan syndrome involves multiple organs; commonly the skeletal, ocular and cardiovascular systems. However, the pulmonary, skin and integument, and central nervous systems are also involved. Though infrequently diagnosed in the perinatal period, the syndrome carries a very high morbidity and mortality, with infants primarily dying of cardiovascular manifestations.

Case Presentation: A 5 week old infant presented with acute respiratory distress, hepatomegaly, and failure to thrive. She was born at 38 weeks gestation and had physical characteristics consistent with Marfan Syndrome: arachnodactyly, flexion contractures, skin and joint hypermobility, distinctive facies, high arched palate and large floppy ears. Echocardiogram demonstrated dilation of all cardiac chambers; tricuspid and mitral valve prolapse and aortic root effacement. Ophthalmologic exam, chromosomes and urine homocysteine were normal. CXR showed the liver bulging into the right hemithorax. She was discharged but required admission at 5 weeks of age with symptoms of congestive heart failure. On anticongestive therapy, repeat echocardiography demonstrated progression of the tricuspid, mitral, and aortic insufficiency. In addition, an echodense area in the right ventricular outflow tract was seen. Abdominal sonogram showed the superior aspect of the liver bulging into the right hemithorax with appropriate movement with respirations suggestive of eventuation of the diaphragm. The liver appeared to be compressing the right lung and shifting the heart to the left. Her respiratory distress persisted despite control of her cardiac disease and was ascribed to decreased lung volume. MRI was performed to better elucidate the diaphragmatic and cardiac abnormalities. The liver was herniating through the right diaphragm causing compression of the right lung. The cardiac images confirmed previous findings with the mass lesion consistent with a lipoma. At 9 weeks of age she had respiratory failure with RSV and shifting lobar atelectasis requiring intubation and mechanical ventilation. Upon recovery from bronchiolitis she underwent surgical repair of the right diaphragmatic hernia which resulted in normal lung expansion and heart position. She however failed several extubation attempts due to recurrent left lung collapse. She was diagnosed with left main stem bronchomalacia by flexible bronchoscopy and remained on mechanical ventilation. However, she developed recurrent hyperinflation of the right lung with emphysematous changes and mediastinal shift. The tricuspid regurgitation worsened and the frequency of respiratory decompensation increased. At 3 1/2 months of age, with her family at her side, support was withdrawn.

Discussion: Marfan syndrome (MS) is well described in older children and adults, however, it is infrequently diagnosed early in infancy. In the absence of a family history, the requirements for diagnosis include skeletal abnormalities-arachnodactyly, high arched palate and abnormal joint mobility--and manifestations in two or more other organ systems (usually ocular and cardiovascular). Pulmonary findings including spontaneous pneumothorax and apical blebs are uncommon and usually present late in life. Diaphragmatic hernias have also been described. The pathology associated with MS is a defect in fibrillin metabolism. The fibrillin 1 (FBN1) gene on chromosome 15q21.1 has been associated with this pattern of abnormalities. Our patient had many of the cardiac manifestations of MS including aortic root dilatation and aortic insufficiency, mitral regurgitation and severe tricuspid valve prolapse and regurgitation. Congestive heart failure was well controlled, but her respiratory symptoms persisted despite repair of the right diaphragmatic hernia. Different from other infants with severe cardiovascular symptoms of MS, our patients's life threatening manifestations were bronchomalacia and emphysema. The finding of bronchomalacia has only been reported in one other patient.[1] This patient also died at 3 months of age. The mean age of survival in all patients with Marfan syndrome is 40 years of age. It seems there is a cohort of patients in whom the disease is diagnosed early in life who have severe cardiorespiratory manifestations, limited life expectancy and no family history. It is likely that different mutations in the FBN1 gene account for the severe infantile phenotypes.

Conclusion: Marfan syndrome has heterogeneous clinical expression with a broad spectrum of organ system involvement and age at diagnosis. Although the cardiovascular manifestations are the usual cause of mortality and morbidity, this case highlights that pulmonary manifestations are also significant.


[1] Gross DM, et al. Severe Perinatal Marfan Syndrome. Pediatrics 1989:84 (1): 83-9

COPYRIGHT 2000 American College of Chest Physicians
COPYRIGHT 2001 Gale Group

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