Pathophysiology and pathogenesis of Marfan syndrome

SM Zeigler, B Sloan, JA Jones - Progress in Heritable Soft Connective …, 2021 - Springer
Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an
autosomal dominant pattern with variable penetrance. While clinically this disease manifests …

Altered smooth muscle cell force generation as a driver of thoracic aortic aneurysms and dissections

DM Milewicz, KM Trybus, D Guo… - … , and vascular biology, 2017 - Am Heart Assoc
The importance of maintaining contractile function in aortic smooth muscle cells (SMCs) is
evident by the fact that heterozygous mutations in the major structural proteins or kinases …

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint …

Writing Committee Members, EM Isselbacher… - Journal of the American …, 2022 - jacc.org
Abstract Aim The “2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic
Disease” provides recommendations to guide clinicians in the diagnosis, genetic evaluation …

Risk factors for thoracic aortic dissection

Z Zhou, AC Cecchi, SK Prakash, DM Milewicz - Genes, 2022 - mdpi.com
Thoracic aortic aneurysms involving the root and/or the ascending aorta enlarge over time
until an acute tear in the intimal layer leads to a highly fatal condition, an acute aortic …

From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta

JB Michel, G Jondeau, DM Milewicz - Cardiovascular research, 2018 - academic.oup.com
Vascular smooth muscle cells (vSMCs) play a crucial role in both the pathogenesis of
Aneurysms and Dissections of the ascending thoracic aorta (TAAD) in humans and in the …

Chromosome 1q21. 2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction

J Saw, ML Yang, M Trinder, C Tcheandjieu… - Nature …, 2020 - nature.com
Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of
myocardial infarction (MI), typically in young women. We undertook a genome-wide …

Therapies for thoracic aortic aneurysms and acute aortic dissections: old controversies and new opportunities

DM Milewicz, F Ramirez - Arteriosclerosis, Thrombosis, and …, 2019 - Am Heart Assoc
Thoracic aortic aneurysms that progress to acute aortic dissections are often fatal. Thoracic
aneurysms have been managed with treatment with β-adrenergic blocking agents (β …

Marfan syndrome and related disorders: 25 years of gene discovery

A Verstraeten, M Alaerts, L Van Laer… - Human mutation, 2016 - Wiley Online Library
Marfan syndrome (MFS) is a rare, autosomal‐dominant, multisystem disorder, presenting
with skeletal, ocular, skin, and cardiovascular symptoms. Significant clinical overlap with …

Inherited thoracic aortic disease: new insights and translational targets

AJ Fletcher, MBJ Syed, TJ Aitman, DE Newby… - Circulation, 2020 - Am Heart Assoc
Inherited thoracic aortopathies denote a group of congenital conditions that predispose to
disease of the thoracic aorta. Aortic wall weakness and abnormal aortic hemodynamic …

Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO

A de la Fuente-Alonso, M Toral, A Alfayate… - Nature …, 2021 - nature.com
Thoracic aortic aneurysm, as occurs in Marfan syndrome, is generally asymptomatic until
dissection or rupture, requiring surgical intervention as the only available treatment. Here …