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Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
Cook, J R; Carta, L; Galatioto, J; Ramirez, F.
Afiliación
  • Cook JR; Department of Pharmacology and Systems Therapeutics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Clin Genet ; 87(1): 11-20, 2015.
Article en En | MEDLINE | ID: mdl-24867163
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor ß (TGFß) signaling. They include Loeys-Dietz syndrome, Shprintzen-Goldberg syndrome, aneurysm-osteoarthritis syndrome and syndromic thoracic aortic aneurysms. Unlike the causal association of MFS with mutations in an extracellular matrix protein (ECM), the aforementioned conditions are due to defects in components of the TGFß pathway. While TGFß antagonism is being considered as a potential new therapy for these heritable syndromes, several points still need to be clarified in relevant animal models before this strategy could be safely applied to patients. Among others, unresolved issues include whether elevated TGFß signaling is responsible for all MFS manifestations and is the common trigger of disease in MFS and related conditions. The scope of our review is to highlight the clinical and experimental findings that have forged our understanding of the natural history and molecular pathogenesis of cardiovascular manifestations in this group of syndromic conditions.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transducción de Señal / Factor de Crecimiento Transformador beta / Anomalías Cardiovasculares / Síndrome de Marfan / Proteínas de Microfilamentos Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transducción de Señal / Factor de Crecimiento Transformador beta / Anomalías Cardiovasculares / Síndrome de Marfan / Proteínas de Microfilamentos Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos