Marfans heilkenni á Íslandi
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open 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 st...
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Læknafélag Íslands, Læknafélag Reykjavíkur
2009
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/64693 2023-05-15T16:45:39+02:00 Marfans heilkenni á Íslandi Marfan's syndrome in Iceland Örn Einarsson Ragnar Danielsen Haraldur Sigurðsson Einar Stefánsson 2009-04-08 http://hdl.handle.net/2336/64693 is ice Læknafélag Íslands, Læknafélag Reykjavíkur http://www.laeknabladid.is Læknablaðið 1996, 82(8):557-62 0023-7213 http://hdl.handle.net/2336/64693 Læknablaðið Bandvefssjúkdómar Marfan Syndrome Iceland Prevalence Article 2009 ftlandspitaliuni 2022-05-29T08:21:18Z Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open 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 ... Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Hjarta ENVELOPE(13.784,13.784,66.771,66.771) Smella ENVELOPE(29.443,29.443,69.896,69.896) |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
Icelandic |
topic |
Bandvefssjúkdómar Marfan Syndrome Iceland Prevalence |
spellingShingle |
Bandvefssjúkdómar Marfan Syndrome Iceland Prevalence Örn Einarsson Ragnar Danielsen Haraldur Sigurðsson Einar Stefánsson Marfans heilkenni á Íslandi |
topic_facet |
Bandvefssjúkdómar Marfan Syndrome Iceland Prevalence |
description |
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open 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 ... |
format |
Article in Journal/Newspaper |
author |
Örn Einarsson Ragnar Danielsen Haraldur Sigurðsson Einar Stefánsson |
author_facet |
Örn Einarsson Ragnar Danielsen Haraldur Sigurðsson Einar Stefánsson |
author_sort |
Örn Einarsson |
title |
Marfans heilkenni á Íslandi |
title_short |
Marfans heilkenni á Íslandi |
title_full |
Marfans heilkenni á Íslandi |
title_fullStr |
Marfans heilkenni á Íslandi |
title_full_unstemmed |
Marfans heilkenni á Íslandi |
title_sort |
marfans heilkenni á íslandi |
publisher |
Læknafélag Íslands, Læknafélag Reykjavíkur |
publishDate |
2009 |
url |
http://hdl.handle.net/2336/64693 |
long_lat |
ENVELOPE(13.784,13.784,66.771,66.771) ENVELOPE(29.443,29.443,69.896,69.896) |
geographic |
Hjarta Smella |
geographic_facet |
Hjarta Smella |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://www.laeknabladid.is Læknablaðið 1996, 82(8):557-62 0023-7213 http://hdl.handle.net/2336/64693 Læknablaðið |
_version_ |
1766035808402276352 |