Results 71 to 80 of about 26,925 (267)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

COARCTATION OF THE AORTA [PDF]

Annals of Surgery, 1952
F, GLENN, W D, O'SULLIVAN
  +9 more sources

Aortic Coarctation Following Aortic Valve Replacement: Problem Solving with Multimodality Cardiac Imaging [PDF]

, 2017
published_or_final_versio
Benson, L, Horlick, E, Li, Q, Ng, MY, Wald, R   +4 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Cerebral Ischemia after Stenting of Coarctation of the Aorta

International Journal of Pediatrics, 2021
Percutaneous stenting angioplasty of native coarctation of the aorta is considered a low-risk procedure with high success rate. The incidence of cerebral complications, especially ischemic complications, is very low. We report a case of a 15-year-old boy
D. Doughmi, S. Benlamkaddem, M. A. Berdai, S. Atmani, M. Harandou   +4 more
doaj   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

Animal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang, Juncheng Wang, Jun Cheng, Yanggan Wang   +3 more
wiley   +1 more source

Balloon Angioplasty Versus Surgical Repair of Coarctation of Aorta in Infants [PDF]

Journal of Tehran University Heart Center, 2011
Background: Coarctation of the aorta is a discrete stenosis of the proximal thoracic aorta. The common clinical pattern is congestive heart failure in infancy.
Fariba Alaei, Mohammad Yousef Arabi Moghadam, Hojat Mortaezaian, Mastaneh Alaei, Hooman Bakhshandeh   +4 more
doaj   +2 more sources

THE ROLE OF THE HEREDITARY PREDISPOSITION IN THE DEVELOPMENT OF AORTA COARCTATION

Вопросы современной педиатрии, 2012
As a result of examination of the families of patients with aorta coarctation the factors predisposing to this condition were established. Sixty eight patients with different localization, stenosis degree and extent of aorta coarctation were included ...
T. N. Tatarinova, A. A. Kostareva, E. V. Grekhov, O. M. Moiseeva   +3 more
doaj   +1 more source

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source