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Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome: A Puzzle Nearing Its Solution.
Rurali, Erica; Perrucci, Gianluca Lorenzo; Pilato, Chiara Assunta; Pini, Alessandro; Gaetano, Raffaella; Nigro, Patrizia; Pompilio, Giulio.
Afiliação
  • Rurali E; Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, Milano, Italy. Electronic address: erica.rurali@ccfm.it.
  • Perrucci GL; Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, Milano, Italy.
  • Pilato CA; Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, Milano, Italy; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Milano, Italy.
  • Pini A; Rare Disease Center, Marfan Clinic, Cardiology department, ASST-FBF-Sacco, Milano, Italy.
  • Gaetano R; Istituto di Biomedicina ed Immunologia Molecolare "Alberto Monroy", CNR, Palermo, Italy.
  • Nigro P; Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, Milano, Italy.
  • Pompilio G; Unit of Vascular Biology and Regenerative Medicine, Centro Cardiologico Monzino IRCCS, Milano, Italy; Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Milano, Italy; Department of Cardiovascular Surgery, Centro Cardiologico Monzino IRCCS, Milano, Italy.
Prog Cardiovasc Dis ; 61(3-4): 328-335, 2018.
Article em En | MEDLINE | ID: mdl-30041021
ABSTRACT
Marfan Syndrome (MFS) is a rare connective tissue disorder, resulting from mutations in the fibrillin-1 gene, characterized by pathologic phenotypes in multiple organs, the most detrimental of which affects the thoracic aorta. Indeed, thoracic aortic aneurysms (TAA), leading to acute dissection and rupture, are today the major cause of morbidity and mortality in adult MFS patients. Therefore, there is a compelling need for novel therapeutic strategies to delay TAA progression and counteract aortic dissection occurrence. Unfortunately, the wide phenotypic variability of MFS patients, together with the lack of a complete genotype-phenotype correlation, have represented until now a barrier hampering the conduction of translational studies aimed to predict disease prognosis and drug discovery. In this review, we will illustrate available therapeutic strategies to improve the health of MFS patients. Starting from gold standard surgical overtures and the description of the main pharmacological approaches, we will comprehensively review the state-of-the-art of in vivo MFS models and discuss recent clinical pharmacogenetic results. Finally, we will focus on induced pluripotent stem cells (iPSC) as a technology that, if integrated with preclinical research and pharmacogenetics, could contribute in determining the best therapeutic approach for each MFS patient on the base of individual differences. Finally, we will suggest the integration of preclinical studies, pharmacogenetics and iPSC technology as the most likely strategy to help solve the composite puzzle of precise medicine in this condition.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Dissecção Aórtica / Síndrome de Marfan Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Dissecção Aórtica / Síndrome de Marfan Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article