Síndrome de Marfán

Marfan Syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Although neonatal and infant forms of the disease exist, the classic Marfan Syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85...

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Autores principales:	Oliva N,Pamela, Moreno A,Regina, Toledo G,M. Isabel, Montecinos O,Andrea, Molina P,Juan
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	Genetic diseases, inborn heart defects, congenital Marfan syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100014
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spelling	oai:scielo:S0034-988720060011000142014-01-24Síndrome de MarfánOliva N,PamelaMoreno A,ReginaToledo G,M. IsabelMontecinos O,AndreaMolina P,Juan Genetic diseases, inborn heart defects, congenital Marfan syndrome Marfan Syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Although neonatal and infant forms of the disease exist, the classic Marfan Syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85% of cases. Due to the natural evolution of the disease, there is a progressive involvement of different organs or systems such as skeletal, cardiovascular, dura, ocular, skin-integument and lungs. However, the suspicion must arise on skeletal clinical aspects which are first evident signs. The cardiovascular involvement appears later but is the major life threatening complication. When suspecting Marfan phenotype, it is mandatory to apply Ghent criteria based on family history and clinical findings to establish the diagnosis. If diagnosis is confirmed, the severity of organ involvement must be assessed, to take preventive and/or therapeutic measures, including the search of new cases among relatives. When patients do not fulfill the diagnostic criteria, they must have a yearly evaluation considering the natural progressive evolution of the disease. The aim of this review is to spread and unify criteria on this disease whose diagnosis is eminently clinical, that requires early integral and updated management by a multidisciplinary group, to obtain the best quality of life and survivalinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.11 20062006-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100014es10.4067/S0034-98872006001100014
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Genetic diseases, inborn heart defects, congenital Marfan syndrome
spellingShingle	Genetic diseases, inborn heart defects, congenital Marfan syndrome Oliva N,Pamela Moreno A,Regina Toledo G,M. Isabel Montecinos O,Andrea Molina P,Juan Síndrome de Marfán
description	Marfan Syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Although neonatal and infant forms of the disease exist, the classic Marfan Syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85% of cases. Due to the natural evolution of the disease, there is a progressive involvement of different organs or systems such as skeletal, cardiovascular, dura, ocular, skin-integument and lungs. However, the suspicion must arise on skeletal clinical aspects which are first evident signs. The cardiovascular involvement appears later but is the major life threatening complication. When suspecting Marfan phenotype, it is mandatory to apply Ghent criteria based on family history and clinical findings to establish the diagnosis. If diagnosis is confirmed, the severity of organ involvement must be assessed, to take preventive and/or therapeutic measures, including the search of new cases among relatives. When patients do not fulfill the diagnostic criteria, they must have a yearly evaluation considering the natural progressive evolution of the disease. The aim of this review is to spread and unify criteria on this disease whose diagnosis is eminently clinical, that requires early integral and updated management by a multidisciplinary group, to obtain the best quality of life and survival
author	Oliva N,Pamela Moreno A,Regina Toledo G,M. Isabel Montecinos O,Andrea Molina P,Juan
author_facet	Oliva N,Pamela Moreno A,Regina Toledo G,M. Isabel Montecinos O,Andrea Molina P,Juan
author_sort	Oliva N,Pamela
title	Síndrome de Marfán
title_short	Síndrome de Marfán
title_full	Síndrome de Marfán
title_fullStr	Síndrome de Marfán
title_full_unstemmed	Síndrome de Marfán
title_sort	síndrome de marfán
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006001100014
work_keys_str_mv	AT olivanpamela sindromedemarfan AT morenoaregina sindromedemarfan AT toledogmisabel sindromedemarfan AT montecinosoandrea sindromedemarfan AT molinapjuan sindromedemarfan
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Síndrome de Marfán

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