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Alterações da cavidade oral na síndrome de Marfan
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| 1.75 MB | Adobe PDF |
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Abstract(s)
A síndrome de Marfan é uma doença genética do tecido conjuntivo, com transmissão autossómica dominante e prevalência estimada em 1/5.000 indivíduos. Na maioria dos casos, é causada por mutações no gene que codifica a fibrilina-1, uma proteína essencial para a integridade das microfibrilhas na matriz extracelular.
Os principais sistemas afetados incluem o cardiovascular, com prolapso e regurgitação mitral, dilatação da raiz da aorta e risco elevado de aneurisma ou dissecção aórtica — complicações potencialmente fatais. No sistema oftálmico, são comuns a miopia, alongamento axialdo globo ocular, achatamento da córnea e deslocamento do cristalino, sendo este último considerado uma característica típica da síndrome.
As alterações músculo-esqueléticas incluem estatura elevada, membros e dedos longos, deformidades torácicas, hiperlaxidão articular e anomalias na coluna vertebral. A cavidade oral também pode apresentar alterações como micrognatia, palato emogiva, má oclusão, apinhamento dentário, hiperlaxidão ligamentar e alterações dentárias, que dificultam tanto o tratamento ortodôntico como a gestão das vias aéreas. Estas manifestações orais podem ainda aumentar o risco de complicações como endocardite infeciosa, exigindo cuidados específicos na prática odontológica.
O diagnóstico é baseado em critérios clínicos atualizados, exames genéticos e diferenciação com outras síndromes de apresentação semelhante. Este trabalho propõe uma revisão atual sobre a síndrome de Marfan, destacando as manifestações orais mais prevalentes e fornecendo orientações clínicas para profissionais de odontologia, a fim de promover um diagnóstico precoce, prevenir complicações e melhorar a qualidade de vida dos pacientes.
Marfan syndrome is a genetic connective tissue disorder with autosomal dominant inheritance and an estimated prevalence of 1 in 5,000 individuals. In most cases, it is caused by mutations in the gene that encodes fibrillin-1, a protein essential for the integrity of microfibrils in the extracellular matrix. The main systems affected include the cardiovascular system, with mitral valve prolapse and regurgitation, aortic root dilation, and a high risk of aortic aneurysm or dissection — potentially life-threatening complications. In the ocular system, common features include myopia, increased axial length ofthe eyeball, corneal flattening, and lens dislocation, the latter being a typical feature of the syndrome. Musculoskeletalalterations include tall stature, disproportionately long limbs and fingers, chest deformities, mild to moderate joint hyperlaxity, and spinal anomalies. Oral cavity involvement may include micrognathia, high-arched palate, malocclusion, dental crowding, ligament hyperlaxity, and dental anomalies, which can complicate both orthodontic treatment and airway management. These oral manifestations may also increase the risk of complications such as infective endocarditis, requiring specific precautions in dental practice. Diagnosis is based on updated clinical criteria, genetic testing, and differentiation from other syndromes with similar phenotypic features. This work aims to provide an up-to-date overview of Marfan syndrome, highlighting the most prevalent oral manifestations and offering clinical guidance for dentalprofessionals to support earlydiagnosis, prevent complications, and improve patient quality of life.
Marfan syndrome is a genetic connective tissue disorder with autosomal dominant inheritance and an estimated prevalence of 1 in 5,000 individuals. In most cases, it is caused by mutations in the gene that encodes fibrillin-1, a protein essential for the integrity of microfibrils in the extracellular matrix. The main systems affected include the cardiovascular system, with mitral valve prolapse and regurgitation, aortic root dilation, and a high risk of aortic aneurysm or dissection — potentially life-threatening complications. In the ocular system, common features include myopia, increased axial length ofthe eyeball, corneal flattening, and lens dislocation, the latter being a typical feature of the syndrome. Musculoskeletalalterations include tall stature, disproportionately long limbs and fingers, chest deformities, mild to moderate joint hyperlaxity, and spinal anomalies. Oral cavity involvement may include micrognathia, high-arched palate, malocclusion, dental crowding, ligament hyperlaxity, and dental anomalies, which can complicate both orthodontic treatment and airway management. These oral manifestations may also increase the risk of complications such as infective endocarditis, requiring specific precautions in dental practice. Diagnosis is based on updated clinical criteria, genetic testing, and differentiation from other syndromes with similar phenotypic features. This work aims to provide an up-to-date overview of Marfan syndrome, highlighting the most prevalent oral manifestations and offering clinical guidance for dentalprofessionals to support earlydiagnosis, prevent complications, and improve patient quality of life.
Description
Dissertação para obtenção do grau de Mestre no Instituto Universitário Egas Moniz
Keywords
Síndrome de Marfan Anomalias do tecido conjuntivo Diagnóstico genético Manifestações orais