Marfan syndrome: Difference between revisions
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'''Marfan | '''Marfan's syndrome''' (''dolichostenomelia'') includes a wide range of symptoms; when fully expresses, the bone, ocucal and cardiovascular systems are affected. The basic criteria are: | ||
#'''''tall figure''''' | #'''''tall figure''''' | ||
#'''''long limbs''''' | #'''''long limbs''''' | ||
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*Hereditary disorder of the mesenchyme (mutations in the gene for '''fibrilin 1''' (FBN1; 15q21.1) – closely related to elastin, mutations in the procollagen I gene have also been found) | *Hereditary disorder of the mesenchyme (mutations in the gene for '''fibrilin 1''' (FBN1; 15q21.1) – closely related to elastin, mutations in the procollagen I gene have also been found) | ||
*Disorders of mucopolysaccharide metabolism are characteristic | *Disorders of mucopolysaccharide metabolism are characteristic | ||
===The clinical picture=== | ===The clinical picture=== | ||
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*'''„Thumb flag“''' (thumb extending beyond the ulnar margin of the hand with the fingers clenched into a fist) | *'''„Thumb flag“''' (thumb extending beyond the ulnar margin of the hand with the fingers clenched into a fist) | ||
*'''„Wrist symptom“''' (when the wrist is freely embraced, the thumb exceeds the little finger) | *'''„Wrist symptom“''' (when the wrist is freely embraced, the thumb exceeds the little finger) | ||
* | *Hypotonic muscles, soft fibrous apparatus ('''ligament laxity''') → scoliosis, kyphosis, chest deformities (''pectus excavatum / carinatum'') | ||
*''' | *'''Hypermobile joints''', ''scapulae alatae, [[genua valga]], genua recurvata, [[pes planovalgus|pedes planovalgi]]'' | ||
* | *Habitual subluxation, joint '''dislocation''' | ||
* | *PIP flexion '''contractures''', sometimes of the elbow and knee joints | ||
*''' | *'''Eye defects''' (ectopia [[lens|lentis]], flattened cornea) | ||
*''' | *'''Aortic root dilatation''' | ||
* | *'''Aneurysm of the ascending aorta''' ([[Cystická medionekróza|Erdheim cystic medionecrosis]]) | ||
* | *'''Dental''' anomalies, gothic floor | ||
* | *Risk of spontaneous pneumotorax, apical lunt bubble | ||
*[[hydroxyprolin]] | *S[[striae|triae]] atrophicae on the skin and recurrent hernia | ||
*[[hydroxyprolin|Hydroxyproline]] in [[Indikátory kostní přestavby, markery kostní resorpce|urine]] | |||
Revision as of 16:54, 20 November 2021
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Marfan's syndrome (dolichostenomelia) includes a wide range of symptoms; when fully expresses, the bone, ocucal and cardiovascular systems are affected. The basic criteria are:
- tall figure
- long limbs
- long thin fingers (arachnodaktyly)
- dislocation of the lens (ectopia lentis)
- cardiovascular anomalies (mitral valve prolapse, aortic aneurism affecting Valsalva`s sinuses or aortic regurgitation, pulmonary dilatation)
It is an inherited AD disease but spontaneous mutation are common, with a frequency of approximately 1:10 000. The violinist Niccolò Paganini, for example, suffered from this syndrome.
A common causes of death at an early age are aneurysm ruptura, aortic dissection or heart failure due to aortic regurgitation (possibly mitral regurgitation).
Etiopathogenesis
- Hereditary disorder of the mesenchyme (mutations in the gene for fibrilin 1 (FBN1; 15q21.1) – closely related to elastin, mutations in the procollagen I gene have also been found)
- Disorders of mucopolysaccharide metabolism are characteristic
The clinical picture
- Graceful skeleton with a shorter torso (ratio of upper and lower body segment <0.85) and noticeably long and elongated fingers and toes, dolichocephaly
- „Thumb flag“ (thumb extending beyond the ulnar margin of the hand with the fingers clenched into a fist)
- „Wrist symptom“ (when the wrist is freely embraced, the thumb exceeds the little finger)
- Hypotonic muscles, soft fibrous apparatus (ligament laxity) → scoliosis, kyphosis, chest deformities (pectus excavatum / carinatum)
- Hypermobile joints, scapulae alatae, genua valga, genua recurvata, pedes planovalgi
- Habitual subluxation, joint dislocation
- PIP flexion contractures, sometimes of the elbow and knee joints
- Eye defects (ectopia lentis, flattened cornea)
- Aortic root dilatation
- Aneurysm of the ascending aorta (Erdheim cystic medionecrosis)
- Dental anomalies, gothic floor
- Risk of spontaneous pneumotorax, apical lunt bubble
- Striae atrophicae on the skin and recurrent hernia
- Hydroxyproline in urine
Rentgenový obraz
- rozšíření dřeňové dutiny na úkor kompakty
- metakarpy, metatarzy i základní falangy protaženy x střední a distální falangy bývají kratší
Terapie
- prevence kontraktur cvičením
- výjimečně symptomatická operační léčba (léčení skoliózy a spondylolistézy, reverzní pánevní osteotomie při protruzi acetabula)
- sledování kardiovaskulárního a plicního postižení, ev. intervence (život ohrožující aneuryzma aorty, spontánní pneumotorax)
Prognóza
- nepříznivá (zejm. díky postižení kardiovaskulárního systému):
- ruptura aneuryzmatu
- disekce aorty
- srdeční selhání v důsledku aortální regurgitace
- arytmie při prolapsu mitralis
- považován za kontraindikaci k těhotenství (resp. indikací k interrupci)
- při pokračujícím těhotenství: pravidelné kontroly nemocné a zákaz větší fyzické aktivity, β-blokátory, porod většinou veden císařským řezem
Odkazy
Související články
- Achondroplázie
- Tanatoforický dwarfismus
- Diastrofická dysplázie
- Spondyloepifyzární dysplázie
- Larsenův syndrom
- Vrozené mnohočetné exostózy
- Fibrózní kostní dysplázie
- Dysostosis cleidocranialis
- Morbus Albers-Schönberg
- Osteopoikilóza
- Arthrogryposis multiplex congenita
- Mukopolysacharidózy
- Hereditární osteoonychodysplázie (nail-patella syndrom)
Externí odkazy
Použitá literatura
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Kategorie:Ortopedie Kategorie:Genetika Kategorie:Pediatrie Kategorie:Kardiologie Kategorie:Články s videem
