Results 101 to 110 of about 264,693 (308)

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

Histopathology reveals concealed aortic valve inflammation

Journal of Cardiothoracic Surgery
Background The extent of aortic valve inflammation in patients undergoing aortic valve replacement (AVR) is unsettled. The significance of aortic valve histopathology in patients undergoing AVR is undetermined.
Mona Laaksonen, Ivana Kholova, Timo Paavonen, Ari Mennander   +3 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +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

Myxomatous degeneration of aortic valve causing severe aortic regurgitation. A rare case report

SAGE Open Medical Case Reports
Myxomatous degeneration of a valve is a non-inflammatory degenerative process due to the disruption of the fibrous layer of the valve with mucopolysaccharide accumulation. It is mostly seen in the mitral valve but involvement in only aortic valve is rare.
Rakesh Kumar Kodakkandla, Venkata Sreedatta Sarraju, Nagesh Ayalasomayajula   +2 more
doaj   +1 more source

Arrhythmic risk in elderly patients candidates to transcatheter aortic valve replacement. predicative role of repolarization temporal dispersion [PDF]

, 2019
Degenerative aortic valve stenosis (AS) is associated to ventricular arrhythmias and sudden cardiac death, as well as mental stress in specific patients. In such a context, substrate, autonomic imbalance as well as repolarization dispersion abnormalities ...
Crapanzano, Davide, DI IORIO, Claudia, Fabietti, Marcella, Magri', Damiano, Mariani, MARCO VALERIO, Mastropietri, Fabiola, Moscucci, Federica, Parrotta, Ilaria, Piccirillo, Gianfranco, Sabatino, Teresa, Salvi, Nicolo', Vespignani, Giulia   +11 more
core   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +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

Wireless blood pressure sensor implantation in sheep: A detailed technique

Animal Models and Experimental Medicine, EarlyView.
Twelve adult sheep underwent wireless blood pressure sensor implantation. The procedure lasted an average of 36 min, with mean systolic and diastolic blood pressures of 93 ± 6 and 65 ± 5 mmHg, respectively. This rapid, minimally invasive protocol is a powerful platform for cardiovascular device development.
David Santer, Paul Ecker, Judith Radloff, Katharina Heissl, Smruti Mirchandani, Sabine Leitner, Bruno Mora, Martin Czerny, Roman Gottardi, Michael Moore, Bruno K. Podesser   +10 more
wiley   +1 more source

One-stop transcatheter aortic valve replacement and fenestrated endovascular aortic aneurysm repair: A case report

Radiology Case Reports
The management of patients with severe aortic valve stenosis and an abdominal aortic aneurysm is a real therapeutic challenge. Minimally invasive treatment is more beneficial than open surgery for treating both aortic valve stenosis and abdominal aortic ...
Abderrahim Sanoussi, MD, Adel Aminian, MD, Jâd Abi-Khalil, MD   +2 more
doaj   +1 more source