2.50
Hdl Handle:
http://hdl.handle.net/2336/64693
Title:
Marfans heilkenni á Íslandi
Other Titles:
Marfan's syndrome in Iceland
Authors:
Örn Einarsson; Ragnar Danielsen; Haraldur Sigurðsson; Einar Stefánsson
Citation:
Læknablaðið 1996, 82(8):557-62
Issue Date:
1-Aug-1996
Abstract:
Marfan's syndrome is a heritable collagen disorder manifested by defects in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant trait. The objectives of this study were to study the prevalence and clinical presentation of Marfan's syndrome in Iceland. We assessed the records of patients diagnosed with Marfan's syndrome during the years 1989-94 at all the major hospitals in Iceland. Hospital cardiologists, pediatricians and ophthalmologists gave valuable information, as did some general practitioners. All patients who agreed to participate were evaluated by an ophthalmologic inspection and an echocardiogram was obtained. A family history was taken and a general physical examination was performed. Twenty two patients were evaluated, at the age seven to 71 years. Seventeen of them had a definitive diagnosis of Marfan's syndrome with a mean age of 27 years. Five patients did not meet the clinical criteria for Marfan's syndrome. Accordingly the prevalence of Marfan's syndrome in Iceland is 6.5/100.000. Ocular involvement was observed in 14 (82%) and 11 (65%) had a dislocated lens. Cardiovascular abnormalities were seen in 11 (65%) patients, nine (53%) had aortic root dilatation and six (35%) had mitral valve prolaps. All patients had skeletal abnormalities. They were tall, skinny, with long extremeties and arachnodactyly. Pectus carinatum was observed in seven (41%) patients. A family history was noted in 12 patients and five (29%) seem to be sporadic cases. Thus, Marfan's syndrome exists in Iceland and it's prevalence and clinical presentation seems to be in concordance with other published studies in the western world.; Marfans heilkenni er bandvefssjúkdómur sem erfist ókynbundið ríkjandi. Hann leggst aðallega á hjarta og æðakerfið, augun og stoðkerfið. Úttekt á Marfans heilkenni hefur aldrei verið framkvæmd á Íslandi. Tilgangur rannsóknarinnar var að athuga algengi sjúkdómsins á Íslandi og dreifingu sjúkdómseinkenna frá hjarta og æðakerfi, augum og stoðkerfi. Fjölskyldusaga hvers sjúklings var könnuð ítarlega og gaumgæft hvort ættartengsl kunni að vera til staðar milli fjölskyldna. Kannaðar voru sjúkraskrár þeirra sjúklinga sem fengið höfðu greininguna Marfans heilkenni á árunum 1989-94 á Landspítala, Landakotsspítala, Borgarspítala og Fjórðungssjúkrahúsinu á Akureyri. Gögn voru fengin frá hjarta-, augn-, barna- og heim-ilislæknum. Sjúklingar með ófullnægjandi upplýsingar voru kallaðir inn og framkvæmd hjá þeim nákvæm augnskoðun og gerð ómskoðun af hjarta. Jafnframt var almenn líkamsskoðun gerð og ítarleg fjölskyldusaga tekin. Alls voru skoðaðir 22 einstaklingar á aldrinum sjö til 71 árs. Par af töldust 17 með öruggt Marfans heilkenni (meðalaldur 27 ár) en fimm með líkleg merki þess (meðalaldur 42 ár). Samkvæmt fyrri hópnum er algengi sjúkdómsins á Íslandi 6,5 á 100.000 íbúa. Augneinkenni höföu 14 (82%) og var hliðrun á augasteinum algengust, fannst hjá 11 einstaklingum (65%). Einkenni frá hjarta og æðakerfi höfðu 11 (65%), þar af níu einstaklingar (53%) með víkkun á ósæðarrótinni og sex (35%) með míturlokubakfall. Allir einstaklingarnir höfðu sérkennandi útlit, voru hávaxnir, grannir, útlima- og fingralangir. Fuglsbrjóst fannst hjá sjö (41%). Tólf einstaklingar höfðu fjölskyldusögu um sjúkdóminn og því eru fimm (29%) stök tilfelli. Ljóst er aö Marfans heilkenni fyrirfinnst á Íslandi. Algengi sjúkdómsins virðist vera svipað hér og í nágrannalöndum okkar. Þessir sjúklingar eru í flestu áþekkir því sem lýst hefur verið í erlendum rannsóknum.
Description:
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
Additional Links:
http://www.laeknabladid.is

Full metadata record

DC FieldValue Language
dc.contributor.authorÖrn Einarsson-
dc.contributor.authorRagnar Danielsen-
dc.contributor.authorHaraldur Sigurðsson-
dc.contributor.authorEinar Stefánsson-
dc.date.accessioned2009-04-08T10:57:09Z-
dc.date.available2009-04-08T10:57:09Z-
dc.date.issued1996-08-01-
dc.date.submitted2009-04-08-
dc.identifier.citationLæknablaðið 1996, 82(8):557-62en
dc.identifier.issn0023-7213-
dc.identifier.urihttp://hdl.handle.net/2336/64693-
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Openen
dc.description.abstractMarfan's syndrome is a heritable collagen disorder manifested by defects in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant trait. The objectives of this study were to study the prevalence and clinical presentation of Marfan's syndrome in Iceland. We assessed the records of patients diagnosed with Marfan's syndrome during the years 1989-94 at all the major hospitals in Iceland. Hospital cardiologists, pediatricians and ophthalmologists gave valuable information, as did some general practitioners. All patients who agreed to participate were evaluated by an ophthalmologic inspection and an echocardiogram was obtained. A family history was taken and a general physical examination was performed. Twenty two patients were evaluated, at the age seven to 71 years. Seventeen of them had a definitive diagnosis of Marfan's syndrome with a mean age of 27 years. Five patients did not meet the clinical criteria for Marfan's syndrome. Accordingly the prevalence of Marfan's syndrome in Iceland is 6.5/100.000. Ocular involvement was observed in 14 (82%) and 11 (65%) had a dislocated lens. Cardiovascular abnormalities were seen in 11 (65%) patients, nine (53%) had aortic root dilatation and six (35%) had mitral valve prolaps. All patients had skeletal abnormalities. They were tall, skinny, with long extremeties and arachnodactyly. Pectus carinatum was observed in seven (41%) patients. A family history was noted in 12 patients and five (29%) seem to be sporadic cases. Thus, Marfan's syndrome exists in Iceland and it's prevalence and clinical presentation seems to be in concordance with other published studies in the western world.en
dc.description.abstractMarfans heilkenni er bandvefssjúkdómur sem erfist ókynbundið ríkjandi. Hann leggst aðallega á hjarta og æðakerfið, augun og stoðkerfið. Úttekt á Marfans heilkenni hefur aldrei verið framkvæmd á Íslandi. Tilgangur rannsóknarinnar var að athuga algengi sjúkdómsins á Íslandi og dreifingu sjúkdómseinkenna frá hjarta og æðakerfi, augum og stoðkerfi. Fjölskyldusaga hvers sjúklings var könnuð ítarlega og gaumgæft hvort ættartengsl kunni að vera til staðar milli fjölskyldna. Kannaðar voru sjúkraskrár þeirra sjúklinga sem fengið höfðu greininguna Marfans heilkenni á árunum 1989-94 á Landspítala, Landakotsspítala, Borgarspítala og Fjórðungssjúkrahúsinu á Akureyri. Gögn voru fengin frá hjarta-, augn-, barna- og heim-ilislæknum. Sjúklingar með ófullnægjandi upplýsingar voru kallaðir inn og framkvæmd hjá þeim nákvæm augnskoðun og gerð ómskoðun af hjarta. Jafnframt var almenn líkamsskoðun gerð og ítarleg fjölskyldusaga tekin. Alls voru skoðaðir 22 einstaklingar á aldrinum sjö til 71 árs. Par af töldust 17 með öruggt Marfans heilkenni (meðalaldur 27 ár) en fimm með líkleg merki þess (meðalaldur 42 ár). Samkvæmt fyrri hópnum er algengi sjúkdómsins á Íslandi 6,5 á 100.000 íbúa. Augneinkenni höföu 14 (82%) og var hliðrun á augasteinum algengust, fannst hjá 11 einstaklingum (65%). Einkenni frá hjarta og æðakerfi höfðu 11 (65%), þar af níu einstaklingar (53%) með víkkun á ósæðarrótinni og sex (35%) með míturlokubakfall. Allir einstaklingarnir höfðu sérkennandi útlit, voru hávaxnir, grannir, útlima- og fingralangir. Fuglsbrjóst fannst hjá sjö (41%). Tólf einstaklingar höfðu fjölskyldusögu um sjúkdóminn og því eru fimm (29%) stök tilfelli. Ljóst er aö Marfans heilkenni fyrirfinnst á Íslandi. Algengi sjúkdómsins virðist vera svipað hér og í nágrannalöndum okkar. Þessir sjúklingar eru í flestu áþekkir því sem lýst hefur verið í erlendum rannsóknum.en
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectBandvefssjúkdómaren
dc.subject.meshMarfan Syndromeen
dc.subject.meshIcelanden
dc.subject.meshPrevalenceen
dc.titleMarfans heilkenni á Íslandiis
dc.title.alternativeMarfan's syndrome in Icelanden
dc.typeArticleen
dc.identifier.journalLæknablaðiðen
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