Results 91 to 100 of about 30,022 (221)

Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. [PDF]

open access: yesPLoS ONE, 2011
Marfan syndrome is an autosomal dominantly inherited disorder of connective tissue with prominent skeletal, ocular, and cardiovascular manifestations. Aortic aneurysm and dissection are the major determinants of premature death in untreated patients.
Gao Guo   +6 more
doaj   +1 more source

Pectus updates and special considerations in Marfan syndrome. [PDF]

open access: yes, 2018
Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome.
Child, A, Fraser, S, Hunt, I
core   +2 more sources

Geleophysic Dysplasia Associated With FBN1 Mutation: Clinical Course, Valvular Heart Disease, and Response to Recombinant Human Growth Hormone Therapy

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Geleophysic dysplasia (GD) is a rare genetic condition caused by pathogenic variants in either the ADAMTSL2 or FBN1 gene. We present a patient that combined clinical features consistent with GD, including short stature, delayed bone age, progressive congenital heart disease, and a happy, round face.
Ray Thomas Katbe   +2 more
wiley   +1 more source

Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection

open access: yesSaudi Journal of Anaesthesia, 2013
Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation.
Tanmoy Ghatak   +2 more
doaj   +1 more source

Immediate effects of submaximal effort on pulse wave velocity in patients with Marfan syndrome [PDF]

open access: yes, 2010
Marfan syndrome (MS) is a dominant autosomal disease caused by mutations in chromosome 15, the locus controlling fibrillin 1 synthesis, and may exhibit skeletal, ocular, cardiovascular, and other manifestations.
Bernardelli, Graziella França   +6 more
core   +1 more source

Partial Agenesis of the Pericardium: A Rare Cause of Palpitations in a Young Adult

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Partial agenesis of the pericardium is a rare congenital anomaly in which part of the fibroelastic pericardial membrane is absent. Many patients remain asymptomatic, while others present with nonspecific symptoms such as palpitations, chest pain, or dyspnea. The rarity and variable presentation often delay diagnosis. We report a case of a male
Parag Karki   +3 more
wiley   +1 more source

Management of Marfan Syndrome, with a Specific Focus on the Significance of Physical Activity in this Patient Population

open access: yesQuality in Sport
Introduction: Marfan syndrome is an autosomal dominant disorder of connective tissue. Timely diagnosis and effective therapy are essential for individuals with Marfan syndrome, as they are susceptible to severe cardiovascular consequences, including ...
Patrycja Jędrzejewska-Rzezak
doaj   +1 more source

Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome

open access: yesPediatrics and Neonatology, 2018
Neonatal Marfan syndrome, in contrast to classical Marfan syndrome, is characterized by rapidly progressive multi-valvular cardiac disease and death from congestive heart failure, typically within the first year of life.
Lu-Hang Liu   +3 more
doaj   +1 more source

Inhibition of MAPK-Erk pathway in vivo attenuates aortic valve disease processes in Emilin1-deficient mouse model [PDF]

open access: yes, 2017
Aortic valve disease (AVD) is a common condition with a progressive natural history, and presently, there are no pharmacologic treatment strategies. Elastic fiber fragmentation (EFF) is a hallmark of AVD, and increasing evidence implicates developmental ...
Aikawa   +45 more
core   +2 more sources

Percutaneous Coronary Intervention to Spontaneous Coronary Artery Dissection With Coexistent Takotsubo Cardiomyopathy: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
A case of spontaneous coronary artery dissection (SCAD) of the first diagonal branch (D1) with co‐existent Takotsubo Cardiomyopathy (TC), successfully revascularised with percutaneous coronary intervention (PCI). ABSTRACT Spontaneous coronary artery dissection (SCAD) is an uncommon cause of non‐atherosclerotic acute coronary syndrome (ACS) resulting in
Ahmed Elsherif   +4 more
wiley   +1 more source

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