[HTML][HTML] FBN1-related Marfan syndrome

H Dietz - 2022 - europepmc.org
FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue
with a high degree of clinical variability, comprises a broad phenotypic continuum ranging …

The aortic team model and collaborative decision pathways for the management of complex aortic disease: clinical practice update from the Canadian Cardiovascular …

RS McClure, TF Lindsay, M Keir, JP Bayne… - Canadian Journal of …, 2023 - Elsevier
Disease of the aortic arch, descending thoracic, or thoracoabdominal aorta necessitates
dedicated expertise across medical, endovascular, and surgical specialties. Cardiologists …

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

EO Klemenzdottir, GA Arnadottir, BO Jensson… - European Journal of …, 2024 - nature.com
Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic
aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the …

Short-term rapamycin treatment increases life span and attenuates aortic aneurysm in a murine model of Marfan-Syndrome

M Zaradzki, F Mohr, S Lont, J Soethoff, A Remes… - Biochemical …, 2022 - Elsevier
Background Marfan syndrome (MFS) is a genetic disorder leading to medial aortic
degeneration and life-limiting dissections. To date, there is no causal prevention or therapy …

Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States

CN Weyland, KB Salciccioli, T Beecroft… - Pediatric …, 2024 - Springer
Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS), Loeys–Dietz
syndrome (LDS), and vascular Ehlers–Danlos syndrome (VEDS) frequently result in …

[HTML][HTML] 马方综合征的最新诊疗进展

杨书婷, 罗芳 - Chinese Journal of Contemporary Pediatrics, 2022 - ncbi.nlm.nih.gov
马方综合征是一种常染色体显性遗传的多系统结缔组织疾病, 主要由FBN1 基因突变所致,
临床表现不一, 新生儿马方综合征尤其罕见, 病情重, 预后差。 目前, 尚无针对马方综合征的 …

Latest advances in the diagnosis and treatment of Marfan syndrome.

Y Shu-Ting, LUO Fang - Chinese Journal of Contemporary …, 2022 - search.ebscohost.com
Marfan syndrome (MFS) is a multisystem conncctivc tissue disease with autosomal dominant
inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical …

The Effects of Medication Strategies on Cardiovascular Outcomes in Patients with Marfan Syndrome: A Consistency Model Analysis

SH Huang, CY Lin, MH Wu, YN Kang, H Hui-Chiu - medRxiv, 2023 - medrxiv.org
ABSTRACT BACKGROUND Drug options for the treatment of Marfan syndrome (MFS) still
warrant further investigation. Beta-blockers (BB) have long been considered the standard …

Molecular mechanisms of thoracic aortic aneurysm in Marfan Syndrome

CX Dong - 2023 - ses.library.usyd.edu.au
Background: Marfan Syndrome (MFS) is a monogenic multisystem disorder resulting from
mutations in fibrillin-1, resulting in thoracic aortic aneurysm. Currently, effective treatments …