Results 81 to 90 of about 49,307 (351)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome [PDF]

, 2008
Background: Progressive enlargement of the aortic root, leading to dissection, is the main cause of premature death in patients with Marfan's syndrome. Recent data from mouse models of Marfan's syndrome suggest that aortic-root enlargement is caused by ...
Brooke, Benjamin S., Dietz, Harry C., Habashi, Jennifer P., Judge, Daniel P., Loeys, Bart, Patel, Nishant   +5 more
core   +2 more sources

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

Results of aortic root reimplantation in patients with ascending aortic aneurysm and concomitant aortic insufficiency

Патология кровообращения и кардиохирургия, 2016
Objective. The research was designed to evaluate the results of valve-sparing operations: aortic root reimplantation versus aortic valve reimplantation when repairing an ascending aortic aneurysm with concomitant aortic insufficiency.Methods.
А. М. Чернявский, Д. С. Хван, С. А. Альсов, Д. А. Сирота, М. М. Ляшенко   +4 more
doaj   +1 more source

Clinical Outcomes Post‐Transcatheter Aortic Valve Replacement in Patients With Hypertrophic Obstructive Cardiomyopathy

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Patients with hypertrophic obstructive cardiomyopathy (HOCM) were excluded from all major trials for transcatheter aortic valve replacement (TAVR). “Suicide left ventricle” occurring after TAVR is postulated to occur as a result of chronic pressure overload from fixed obstruction that is acutely relieved after the valve deployment ...
Muhammad Usman Almani, Vibhor Ahluwalia, Muhammad Yousuf, Jafar Alzubi, Mohammad Hamza, Raphael Bonita, Christian Witzke   +6 more
wiley   +1 more source

Incidence and risk factors for pacemaker implantation following aortic valve replacement [PDF]

, 2010
Our aim was to identify the predictive factors for permanent pacemaker (PM) implantation in patients undergoing isolated aortic valve replacement (AVR).
Achim Häusler, Bateman, Boughaleb, Brodell, Burkhardt Seifert, Chung, Denis Berdajs, Glikson, Gordon, Jens Berli, Jensen, Keefe, Kim, Lewis, Limongelli, Lipton, Maximilian Emmert, Michele Genoni, Omer Dzemali, Thomas, Thomas, Ulrich P. Schurr, Warshawsky   +22 more
core   +1 more source

Comparison of in‐Hospital Complication Rates After Transcatheter Aortic Valve Replacement in Patients With Bicuspid Versus Tricuspid Aortic Valves: A Retrospective Cohort Study

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Transcatheter aortic valve replacement (TAVR) has become a popular alternative to surgical aortic valve replacement (SAVR) for patients with valvular heart disease (VHD), particularly for those with aortic anomalies. Aims The study aimed to compare the risks of post‐TAVR complications between patients with bicuspid and tricuspid ...
Tingxi Zhu, Jiawei Luo, Xuan Huang, Lulu Liu, Kehan Li, Wei He, Xiaobo Zhou, Yingqiang Guo, Xiaoyan Yang   +8 more
wiley   +1 more source

Sub total aortic replacement using simultaneous Bentall and elephant trunk procedure [PDF]

, 2011
A 22 year old female with valvular heart disease, moderate mitral valve insufficiency, moderate aortic insufficiency, extensive aneurysmal dilatation of the entire ascending aorta and arch, and segmental dilatation of descending aorta underwent entire ...
Darr, Umer, Kisat, Mehreen
core   +1 more source