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Marfan's Syndrome
From WikiSM
Other Names
Background
History
- First discovered 100 years ago by Antoine-Bernard Marfan
Epidemiology
- Incidence of classic Marfan's Syndrome is 2-3 per 10000 births
- About 25% of cases are due to de-novo mutations[1]
- Tall stature leads to increase incidents in athletics, notably volleyball and basketball
- One study of 415 high school basketball and volleyball players showed that 1% had aortic enlargement and two were diagnosed with Marfan's syndrome[2]
Pathophysiology
- Mutation in the fibrillin-1 protein (FBN1) gene results in pathologic fibrillin 1 protein within the extracellular matrix[1]
Risk Factors
- Genetics
- Mutation in fribillin 1 (FBN1) gene
Differential Diagnosis
- Familial thoracic aortic aneurysm syndrome
- Homocystinuria
Clinical Features
- General
- History
- Physical Exam
- Musculoskeletal Findings
- Overgrowth of the long bones (arms and legs)
- Pectus carinatum or pectus excavatum
- Arachnodactyly (overgrowth of the fingers)
- Thoracolumbar scoliosis
- Pes planes, although a small subset of patients may have exaggerated pes cavus
- Joint hypermobility
- Camptodactyly (contracture of the fingers)
- Ocular
- Ectopia lentis, or dislocation of the ocular lens
- Prominent in ~60% of patients
- Flat cornea
- Myopia
- Decreased miosis
- Ectopia lentis, or dislocation of the ocular lens
- Musculoskeletal Findings
- Special Tests
- Walker-Murdoch (Wrist Sign)
- Overlap of the distal of the thumb and fifth finger when wrapped around the wrist
- Steinberg (Thumb) Sign
- Distal thumb extends beyond the ulnar border of the hand when folded across the palm[1]
- Walker-Murdoch (Wrist Sign)
Evaluation
- Diagnosis is dependent on the clinical criteria known as the Ghent Nosology for Marfan Syndrome which was revised in 2010
- 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules
- Without a family history
- Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis
- Aortic Root Dilatation Z score ≥ 2 AND FBN1
- Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pt
- Ectopia lentis AND a FBN1 mutation associated with Aortic Root Dilatation
- With a family history
- Ectopia lentis AND Family History of Marfan syndrome
- A systemic score ≥ 7 points AND Family History of Marfan syndrome
- Aortic Root Dilatation Z score ≥ 2 above 20 yrs. old, ≥ 3 below 20 yrs. old + Family History of Marfan syndrome[3]
- Without a family history
Classification
Management
Prognosis
Nonoperative
Operative
Rehab and Return to Play
Rehabilitation
Return to Play
Complications
- Marfan's Syndrome has many cardiovascular manifestations
- Mitral or tricuspid valve prolapse and regurgitation
- Congestive heart failure
- Pulmonary hypertension
- Calcification of the mitral annulus
- Aortic valve dysfunction due to stretching of the aortic annulus from aneursm
- Prolonged QT interval
- Dilated cardiomyopathy
- Aortic aneurysm and dissection
- Most severe and life-threatening [1]
See Also
References
- ↑ 1.0 1.1 1.2 1.3 Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366(9501):1965‐1976. doi:10.1016/S0140-6736(05)67789-6
- ↑ Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age.Am Heart J. 2000 Apr; 139(4):723-8
- ↑ Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476‐485. doi:10.1136/jmg.2009.072785
