[HTML][HTML] Marfan syndrome revisited: From genetics to clinical practice

SG Coelho, AG Almeida - Revista Portuguesa de Cardiologia (English …, 2020‏ - Elsevier
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …

[PDF][PDF] Cardiac complications in Marfan syndrome: a review

J Singh, A Wanjari - Cureus, 2022‏ - cureus.com
Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an
autosomal dominant mode of inheritance which happens as a result of a mutation in the …

[HTML][HTML] miR-632 induces DNAJB6 inhibition stimulating endothelial-to-mesenchymal transition and fibrosis in marfan syndrome aortopathy

S Terriaca, MG Scioli, C Pisano, G Ruvolo… - International Journal of …, 2023‏ - mdpi.com
Marfan syndrome (MFS) is a connective tissue disorder caused by FBN1 gene mutations
leading to TGF-β signaling hyperactivation, vascular wall weakness, and thoracic aortic …

Marfan syndrome: A therapeutic challenge for long-term care

AH Wagner, M Zaradzki, R Arif, A Remes… - Biochemical …, 2019‏ - Elsevier
Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in
the fibrillin-1 gene. Acute aortic dissection is the leading cause of death in patients suffering …

An overview of investigational and experimental drug treatment strategies for Marfan syndrome

V Deleeuw, A De Clercq, J De Backer… - Journal of experimental …, 2021‏ - Taylor & Francis
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic
variants in the gene coding for the extracellular matrix protein fibrillin-1. While the disease …

[HTML][HTML] Síndrome de Marfan revisitada–da genética à clínica

SG Coelho, AG Almeida - Revista Portuguesa de Cardiologia, 2020‏ - Elsevier
A síndrome de Marfan é uma doença autossómica dominante do tecido conjuntivo, com
uma incidência estimada de um em 5000 indivíduos. Em 90% dos casos resulta de …

Pleiotropic activation of endothelial function by angiotensin II receptor blockers is crucial to their protective anti-vascular remodeling effects

AY Tehrani, Z White, LW Tung, RRY Zhao, N Milad… - Scientific Reports, 2022‏ - nature.com
There are no therapeutics that directly enhance chronic endothelial nitric oxide (NO)
release, which is typically associated with vascular homeostasis. In contrast, angiotensin II …

Vascular progenitor cell senescence in patients with Marfan syndrome

H He, B Yu, Z Liu, G Ye, W You, Y Hong… - Journal of Cellular …, 2019‏ - Wiley Online Library
Vascular progenitor cells (VPCs) present in the adventitia of the vessel wall play a critical
role in the regulation of vascular repair following injury. This study aimed to assess the …

Total arch replacement and frozen elephant trunk for type A aortic dissection after Bentall procedure in Marfan syndrome

Y Chen, WG Ma, J Zheng, YM Liu… - Journal of Thoracic …, 2018‏ - pmc.ncbi.nlm.nih.gov
Background We seek to report the long-term outcomes of the total arch replacement and
frozen elephant trunk (TAR+ FET) technique for type A aortic dissection (TAAD) following …

Aortopathy in congenital heart disease

TB Cotts, KB Salciccioli, SK Swanson… - Cardiology …, 2020‏ - cardiology.theclinics.com
Over the last few decades, an accumulating body of medical literature has documented the
presence of aortic dilation in patients with congenital heart defects (CHD) and explored the …