Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome

A Puzzle Nearing Its Solution

Erica Rurali, Gianluca Lorenzo Perrucci, Chiara Assunta Pilato, Alessandro Pini, Raffaella Gaetano, Patrizia Nigro, Giulio Pompilio

Research output: Contribution to journalReview article

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)328-335
Number of pages8
JournalProgress in Cardiovascular Diseases
Volume61
Issue number3-4
DOIs
Publication statusPublished - Sep 1 2018

Fingerprint

Thoracic Aortic Aneurysm
Marfan Syndrome
Induced Pluripotent Stem Cells
Pharmacogenetics
Dissection
Therapeutics
Technology
Genetic Association Studies
Drug Discovery
Thoracic Aorta
Individuality
Connective Tissue
Rupture
Medicine
Pharmacology
Morbidity
Phenotype
Mutation
Mortality
Health

Keywords

  • FBN1
  • iPSC
  • Marfan syndrome
  • Pharmacogenetics
  • TAA

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

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.

In: Progress in Cardiovascular Diseases, Vol. 61, No. 3-4, 01.09.2018, p. 328-335.

Research output: Contribution to journalReview article

Rurali, Erica ; Perrucci, Gianluca Lorenzo ; Pilato, Chiara Assunta ; Pini, Alessandro ; Gaetano, Raffaella ; Nigro, Patrizia ; Pompilio, Giulio. / Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome : A Puzzle Nearing Its Solution. In: Progress in Cardiovascular Diseases. 2018 ; Vol. 61, No. 3-4. pp. 328-335.
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