Results 121 to 130 of about 886,119 (323)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

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

Fetal aortic valvuloplasty: first report of two cases from Saudi Arabia

Journal of Cardiothoracic Surgery, 2020
Background Fetal aortic stenosis may progress to hypoplastic left heart syndrome (HLHS), which carries a poor prognosis. We report two infants with fetal aortic stenosis successfully treated with fetal aortic valvuloplasty (FAV) using balloon dilatation.
Merna Atiyah, Ahmed Kurdi, Osama Al Tuwaijry, Atif Al Sahari, Maha Al Rakaf, Inas Babic, Fahad Al Habshan, Zohair Alhalees, Khalid Al Najashi   +8 more
doaj   +1 more source

Treatment of denture-related stomatitis improves endothelial function assessed by flow-mediated vascular dilation [PDF]

, 2016
Introduction: The presence of oral inflammation has recently been linked with the pathogenesis of cardiovascular diseases. While numerous studies have described links between periodontitis and endothelial dysfunction, little is known about the influence ...
Czesnikiewicz-Guzik, Marta, Dembowska, Elżbieta, Guzik, Tomasz, Loster, Jolanta, Maciąg, Anna, Maciąg, Joanna, Nowakowski, Daniel, Osmenda, Grzegorz, Robertson, Douglas, Wilk, Grzegorz   +9 more
core   +3 more sources

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Avaliação ecocardiográfica da dilatação da raiz da aorta em doentes adultos operados a tetralogia de Fallot

Revista Portuguesa de Cardiologia, 2013
Resumo: Introdução: O ecocardiograma transtorácico é fundamental na avaliação de doentes operados a tetralogia de Fallot. A dilatação da raiz da aorta é uma complicação descrita.
Cristina Cruz, Teresa Pinho, Ana Lebreiro, José Silva Cardoso, Maria Júlia Maciel   +4 more
doaj   +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

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +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