Results 21 to 30 of about 6,089 (248)

Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family membersCentral MessagePerspective

JTCVS Open, 2023
Objective: Genetic aortopathy, if left untreated, leads to aortic catastrophe in most affected individuals. We sought to determine the genetic mutation patterns and detection rates in patients with aortopathy and their families with a systematic ...
Jihoon Kim, MD, PhD, Jae Suk Yoo, MD, PhD, Hee-Jung Kim, MD, PhD, Ho Jin Kim, MD, Dae-Hee Kim, MD, PhD, Suk Jung Choo, MD, PhD, Joon Bum Kim, MD, PhD   +6 more
doaj   +1 more source

A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy

Cardiogenetics, 2021
Thoracic aortic aneurysm (TAA) is a heritable aortopathy with significant morbidity and mortality, affecting children and adults. Genetic causes, pathobiological mechanisms, and prognostic markers are incompletely understood.
Courtney E. Vujakovich, Benjamin J. Landis   +1 more
doaj   +1 more source

Experimental evidence of the genetic hypothesis on the etiology of bicuspid aortic valve aortopathy in the hamster model

Frontiers in Cardiovascular Medicine, 2022
Bicuspid aortopathy occurs in approximately 50% of patients with bicuspid aortic valve (BAV), the most prevalent congenital cardiac malformation. Although different molecular players and etiological factors (genetic and hemodynamic) have been suggested ...
María Teresa Soto-Navarrete, María Teresa Soto-Navarrete, Bárbara Pozo-Vilumbrales, Bárbara Pozo-Vilumbrales, Miguel Ángel López-Unzu, Miguel Ángel López-Unzu, Miguel Ángel López-Unzu, Carmen Rueda-Martínez, M. Carmen Fernández, M. Carmen Fernández, M. Carmen Fernández, Ana Carmen Durán, Ana Carmen Durán, Francisco Javier Pavón-Morón, Francisco Javier Pavón-Morón, Francisco Javier Pavón-Morón, Jorge Rodríguez-Capitán, Jorge Rodríguez-Capitán, Jorge Rodríguez-Capitán, Borja Fernández, Borja Fernández, Borja Fernández   +21 more
doaj   +1 more source

Open repair of chronic thoracic and thoracoabdominal aortic dissection using deep hypothermia and circulatory arrest [PDF]

, 2017
Background Chronic dissection of the thoracic and thoracoabdominal aorta as sequela of a prior type A or B dissection is a challenging problem that requires close radiographic surveillance and prompt operative intervention in the presence of symptoms ...
Blitzer, David, Copeland, Hannah, Corvera, Joel, Fehrenbacher, John, Hess, Philip, Hicks, Adam, Manghelli, Joshua   +6 more
core   +1 more source

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach [PDF]

, 2015
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%-5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently.
Bleyl, Steven B., Border, William L., Bowles, Neil E., Garg, Vidu, Hinton, Robert B., Lalani, Seema R., McBride, Kim L., Smolarek, Teresa A., Ware, Stephanie M.   +8 more
core   +2 more sources

Luetic aortopathy: Revisited

Indian Journal of Sexually Transmitted Diseases and AIDS, 2010
We report a case of 38-year-old male, who presented with a large pulsatile swelling on the left side of the anterior chest wall of 4 months' duration with a gradual increase in size. He gave history of sexual promiscuity in the form of unprotected sexual intercourse prior to his marriage in his early 20s. He also gave a history of ulceration on coronal
Madke, Bhushan Sevakram, Agrawal, Nandkishor Babulal, Vaideeswar, Pradeep, Pradhan, Mayuresh, Rojekar, Amey Vijay, Khopkar, Uday Sharadchandra   +5 more
openaire   +3 more sources

Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundMarfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin‐1 (FBN1); however, the mechanisms through which fibrillin‐1 deficiency causes MFS‐associated aortopathy are uncertain. Recently, attention was focused on the hypothesis
Hao Wei, Jie Hong Hu, Stoyan N. Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A. Dichek   +7 more
doaj   +1 more source

Fate of the Aortic Arch Following Surgery on Aortic Root and Ascending Aorta in Bicuspid Aortic Valve. [PDF]

, 2018
BACKGROUND: Recent guidelines support more aggressive surgery for aneurysms of the ascending aorta and root in patients with bicuspid aortic valve. However, the fate of the arch after surgery of the root and ascending aorta is unknown.
Bilkhu, R, Child, A, Edsell, M, Jahangiri, M, Liban, B, Nowell, J, Phillips, S, Sharma, R, Soppa, G, Theodoropoulos, P, Tome, M, Youssefi, P   +11 more
core   +1 more source

A Framework for the Evaluation and Reporting of Outcomes after Complex Heart Valve Interventions: Applications to the European Ross Registry [PDF]

, 2014
__Abstract__ Chapter 1 is the general introduction of the thesis. Chapter 2 presents a proposal on the nomenclature of the aortic root components. Chapters 3 and 4 present the single center results with the subcoronary Ross procedure in the University
Charitos, E.I. (Efstratios)
core   +11 more sources

TGFβ (transforming growth factor-β) blockade induces a human-like disease in a nondissecting mouse model of abdominal aortic aneurysm [PDF]

, 2017
Objective-Current experimental models of abdominal aortic aneurysm (AAA) do not accurately reproduce the major features of human AAA. We hypothesized that blockade of TGF beta (transforming growth factor-beta) activity-a guardian of vascular integrity ...
Clément, Marc, Esposito, Bruno, Finigan, Alison, Lareyre, Fabien, Mallat, Ziad, Master, Leanne, Patel, Meghana, Pohlod, Stefanie, Raffort, Juliette, Stergiopulos, Nikolaos, Taleb, Soraya, Trachet, Bram, Vandestienne, Marie   +12 more
core   +2 more sources