Results 61 to 70 of about 84,331 (274)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A comparison of clinical paediatric murmur assessment with echocardiography [PDF]

, 2004
Objective: To compare the clinical acumen of paediatric cardiovascular examination between various hospital paediatrician grades. Design: Prospective data collection of clinical and echocardiography findings on paediatric echocardiography referrals ...
Bailey, Mark, Grech, Victor E., Mercieca, Victor, Spiteri, Amaris, Torpiano, John G.   +4 more
core  

Catheter ablation of atrial fibrillation : radiofrequency catheter ablation for redo procedures after cryoablation [PDF]

, 2013
Aim: To evaluate the effectiveness of two different strategies using radiofrequency catheter ablation for redo procedures after cryoablation of atrial fibrillation. Methods: Thirty patients (paroxysmal atrial fibrillation: 22 patients, persistent atrial
Gramley, Felix, Kettering, Klaus
core   +1 more source

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

Cor triatriatum with mitral stenosis: A diagnostic dilemma

International Journal of the Cardiovascular Academy, 2019
Cor triatriatum sinister is an extremely rare congenital heart defect. Very few cases have been reported for cor triatriatum associated with mitral regurgitation.
Devvrat Desai, Jignesh Kothari, Parth Solanki, Kinnaresh Baria   +3 more
doaj   +1 more source

A Case of an Unusual Clinical Course of Mitral Stenosis

Український журнал серцево-судинної хірургії, 2023
Background. The stage 4 mitral stenosis is accompanied by atrial fibrillation which significantly worsens the prognosis due to the possibility of thromboembolic complications.
Rostyslav M. Vitovskyi, Volodymyr V. Isaienko, Andrii R. Vitovskyi, Olena V. Satmari, Inna G. Yakovenko, Natalia I. Volkova   +5 more
doaj   +1 more source

Predictive power of different obesity measures for the presence of diastolic dysfunction [PDF]

, 2018
Objective: Body mass index (BMI) and waist circumference (WC) as measures of obesity have some limitations. The aim of this study was to evaluate whether one measure could predict the presence of diastolic dysfunction (DD) more accurately than the other ...
Can, Beray, Fidan-Yaylalı, Güzin, Kılınç, Mehmet, Yaylalı, Yalın Tolga, Yurtdaş, Mustafa, Şenol, Hande   +5 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Persistence Pulmonal Hypertension After Balloon Mitral Valvuiloplasty

Majalah Kardiologi Indonesia, 2013
Background.Pulmonary hypertension frequently complicates mitral stenosis. Increased pulmonary artery pressure results from raised left atrial pressure, pulmonary arteriolar vasoconstriction, and obliterative changes in the pulmonary vascular bed, and ...
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