User:Mr. Ibrahem/Marfan syndrome
| Marfan syndrome | |
|---|---|
| Other names | Marfan's syndrome |
| File:Marfan wrist.png | |
| A positive wrist sign in a person with Marfan syndrome (the thumb and little finger overlap when grasping the wrist of the opposite hand)[1] | |
| Specialty | Medical genetics |
| Symptoms | Tall, thin build; long arms, legs and fingers; flexible fingers and toes[2] |
| Complications | Scoliosis, mitral valve prolapse, aortic aneurysm[2] |
| Duration | Long term[2] |
| Causes | Genetic (autosomal dominant)[2] |
| Diagnostic method | Molecular testing, Ghent criteria[3] |
| Differential diagnosis | Loeys–Dietz syndrome, Congenital contractural arachnodactyly, Ehlers–Danlos syndrome, Homocystinuria, MASS phenotype, Stickler syndrome[3] |
| Medication | Beta blockers, calcium channel blockers, ACE inhibitors[4][5] |
| Prognosis | Often normal life expectancy[2] |
| Frequency | 1 in 5,000–10,000[4] |
Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue.[2] Those with the condition tend to be tall and thin, with long arms, legs, fingers and toes.[2] They also typically have flexible joints and scoliosis.[2] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.[2][6] The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.[2] The severity of the symptoms is variable.[2]
MFS is caused by a mutation in FBN1, one of the genes that makes fibrillin, which results in abnormal connective tissue.[2] It is an autosomal dominant disorder.[2] About 75% of the time, the condition is inherited from a parent with the condition, while 25% of the time it is a new mutation.[2] Diagnosis is by based on molecular testing or the Ghent criteria.[3][7]
There is no known cure for MFS.[2] Many of those with the disorder have a normal life expectancy with proper treatment.[2] Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors.[4][5] Surgery may be required to repair the aorta or replace a heart valve.[5] Avoiding strenuous exercise is recommended.[4]
About 1 in 5,000 to 1 in 10,000 people have MFS.[4][8] It occurs equally in males and females.[4] Rates of the condition are similar between races and in different regions of the world.[8] It is named after French pediatrician Antoine Marfan, who first described it in 1896.[9][10]
References[edit]
- ^ Staufenbiel, Ingmar; Hauschild, Christian; Kahl-Nieke, Bärbel; Vahle-Hinz, Eva; von Kodolitsch, Yskert; Berner, Maike; Bauss, Oskar; Geurtsen, Werner; Rahman, Alexander (2013-01-01). "Periodontal conditions in patients with Marfan syndrome - a multicenter case control study". BMC Oral Health. 13: 59. doi:10.1186/1472-6831-13-59. ISSN 1472-6831. PMC 3816571. PMID 24165013.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b c d e f g h i j k l m n o p "What Is Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 6 May 2016. Retrieved 16 May 2016.
- ^ a b c Madan-Khetarpal, Georgianne; Arnold, Georgianne; Oritz, Damara (2023). "1. Genetic disorders and dysmorphic conditions". In Zitelli, Basil J.; McIntire, Sara C.; Nowalk, Andrew J.; Garrison, Jessica (eds.). Zitelli and Davis' Atlas of Pediatric Physical Diagnosis (8th ed.). Philadelphia: Elsevier. pp. 19–21. ISBN 978-0-323-77788-9. Archived from the original on 2022-12-19. Retrieved 2022-12-19.
- ^ a b c d e f "Marfan Syndrome". National Organization for Rare Disorders. 2017. Archived from the original on 12 November 2019. Retrieved 5 November 2016.
- ^ a b c "How Is Marfan Syndrome Treated?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- ^ "What Are the Signs and Symptoms of Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- ^ "How Is Marfan Syndrome Diagnosed?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- ^ a b Keane MG, Pyeritz RE (2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802–13. doi:10.1161/CIRCULATIONAHA.107.693523. PMID 18506019.
estimated prevalence of 1 case per 3000 to 5000 individuals
- ^ Marfan, Antoine (1896). "Un cas de déformation congénitale des quartre membres, plus prononcée aux extrémitiés, caractérisée par l'allongement des os avec un certain degré d'amincissement [A case of congenital deformation of the four limbs, more pronounced at the extremities, characterized by elongation of the bones with some degree of thinning]". Bulletins et Memoires de la Société Medicale des Hôspitaux de Paris (in French). 13 (3rd series): 220–226.
- ^ "Antoine Bernard-Jean Marfan". Whonamedit?. Archived from the original on 8 March 2016. Retrieved 16 May 2016.