Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene

Aragon-Martin, José Antonio; Child, Anne H.

doi:10.1007/978-1-4471-5442-6_22

Cited by 1 publication

(1 citation statement)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…MFS, an autosomal dominant genetic disease, is caused by a mutation of the fibrillin-1 gene, a major glycoprotein of the extracellular matrix, which leads to the deterioration of the connective tissue. The ocular and skeletal systems are also affected in MFS (1)(2)(3)(4).…”

Section: Introductionmentioning

confidence: 99%

Systematic review and meta-analysis of aortic valve-sparing surgery versus replacement surgery in ascending aortic aneurysms and dissection in patients with Marfan syndrome and other genetic connective tissue disorders

Soto¹,

Ochoa‐Hein²,

Anaya‐Ayala³

et al. 2021

J Thorac Dis

View full text Add to dashboard Cite

Background: Aortic aneurysm and dissection are important causes of morbimortality in patients with Marfan syndrome (MFS) and other connective tissue diseases that affect the cardiovascular tissues. Timely intervention through different surgical techniques improves the prognosis. Both sparing and replacementtype interventions of the aortic valve are used, but selection depends on the condition of the patient at the time of diagnosis, the patient's emergency condition, surgeon preference and hospital resources. Previous meta-analyses have suggested an advantage with the use of sparing-type interventions, but this finding must be updated and extended to patients with other connective tissue disorders. The objetive of this study is to evaluate the outcomes of valve-sparing root replacement versus aortic root replacement procedures in patients with MFS and similar connective tissue diseases that present with aortic aneurysm or dissection. Methods: A systematic review of cohort studies that evaluated sparing-type (preserving, remodeling, reimplantation, Yacoub, David or Florida Sleeve) or replacement-type (repair, Bentall, Button-Bentall, composite valve graft or Cabrol) procedures in patients with Marfan, Loeys-Dietz, Beals-Hecht or Ehlers-Danlos syndromes was done. Studies were retrieved from the SCOPUS, MEDLINE, CINAHL, EMBASE and LILACS electronic databases up to January 2020 without language restrictions. Only studies that directly compared sparing-versus replacement-type procedures were included in the meta-analysis. Results: A total of 33 studies (n=1,807 subjects) reported sparing-type surgical interventions and 26 studies (n=2,218 subjects) reported replacement-type surgical interventions. Pooled rates of endocarditis, thromboembolism and aneurysm were higher in replacement-type surgical intervention studies. Sixteen studies were included in the meta-analysis. Sparing-type interventions were associated with a reduced risk of endocarditis (RR =0.13, 95% CI: 0.03-0.61); however, replacement-type interventions favored freedom from valve reoperation (RR =2.39, 95% CI: 1.24-4.60). All studies were at low risk of bias. Conclusions: The choice of the best surgical technique is dependent on the type of disease (MFS or other connective tissue diseases) as well as the accompanying aortic and cardiovascular damage, since these key factors are heterogeneous. Although the results of this meta-analysis tend to show some advantages for one type of surgical intervention over the other and viceversa, the surgeon can only make the best decision 2 Soto et al. Aortic surgery in Marfan and similar syndromes

show abstract

Section: Introductionmentioning

confidence: 99%