Results 111 to 120 of about 59,540 (269)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Perivalvular Abscess of Tricuspid Valve: A Rare Complication of Infective Endocarditis [PDF]

Journal of Tehran University Heart Center, 2010
Infective endocarditis is a serious complication of intravenous (IV) drug abuse, with a reported mortality of 5 to 10%. A 21-year-old man, who was an intravenous drug abuser, presented with fever and dyspnea.
Ali Reza Moaref, Yadallah Mahmoody, Khallil Zarrabie   +2 more
doaj   +1 more source

Diastolic And Systolic Right Ventricular Dysfunction Precedes Left Ventricular Dysfunction In Patients Paced From Right Ventricular Apex [PDF]

, 2006
Background: Cardiac dysfunction after right ventricular (RV) apical pacing is well known but its extent, time frame of appearance and individual effect on left ventricular (LV), RV systolic and diastolic parameters has not evaluated in a systematic ...
Bansal, Sandeep, M, Hasan, MK, Makharia, Puri, Aniket, RK, Saran, SK, Dwivedi, VK, Puri, VS, Narain   +7 more
core  

Transcatheter Aortic Valve Implantation in Dialysis Patients [PDF]

, 2012
Background/Aims: Transcatheter aortic valve implantation (TAVI) has emerged as a new therapeutic option for high-risk patients. However, dialysis patients were excluded from all previous studies.
Baglin A, Braun J, Bryg RJ, Christian Kupatt, Cribier A, Edwards FH, Gerhard Steinbeck, Herzog CA, Iung B, Leon MB, London GM, Lucke JC, Maher ER, Matthias Wessely, Michael Fischereder, Philipp Lange, Rodes-Cabau J, Simon Rau, Smith CR, Stinebaugh J, Straumann E, Tanaka K, Ulf Schönermarck, Urena P, Varadarajan P, Varma R   +25 more
core   +1 more source

Repair of the calcified bicuspid aortic valve [PDF]

European Journal of Cardio-Thoracic Surgery, 2010
The novel repair technique of calcified bicuspid aortic valve is described, in which the calcified body of the cusps is repaired with autologous pericardium leaving the native free margin and commissures in place for anchoring. The technique has been used in 48 consecutive patients offering excellent early results.
openaire   +3 more sources

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Figure-8 Tachycardia Confined to the Anterior Wall of the Left Atrium [PDF]

, 2004
Incisional atrial tachycardias have been described most frequently in patients with previous corrective surgery for congenital heart defects and mitral valve disease.
Liuba, Ioan, Jönsson, Anders, Walfridsson, Håkan   +2 more
core  

Two causes of COVID‐19‐related myocardial injury‐associated cardiogenic shock: Myocarditis and microvascular thrombosis

ESC Heart Failure, Volume 12, Issue 2, Page 1514-1522, April 2025.
Takamasa Iwai, Hirohiko Aikawa, Yoshiaki Morita, Keiko Ohta‐Ogo, Teruo Noguchi   +4 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source