Results 81 to 90 of about 525,140 (261)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Early Outcomes of Aortic Valve Bicuspidization Using Autologous Pericardium in Pediatric Aortic Stenosis: a Preliminary Case Series [PDF]

Aortic valve bicuspidization using autologous pericardium is a promising valve-sparing technique for treating aortic stenosis in pediatric patients. However, literature describing this procedure in children remains limited.
Akkerbez Adilbekova, Arailym Kenzhebayeva, Elmira Kuandykova, Bakhytzhan Nurkeyev, Amangeldy Kerimkulov, Bagzhan Omiraliev, Assiya Akhmoldayeva   +6 more
core   +2 more sources

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Commando procedure in a radiated chestCentral Message

JTCVS Techniques, 2022
Jennifer L. Perri, MD, MBA, Douglas R. Johnston, MD   +1 more
doaj   +1 more source

#4 Surgical Outcomes and Decision Making for Bicuspid Aortic Valve

Graduate Medical Education Research Journal
Mentor: Angela Yetman Program: Pediatrics – Cardiology Type: Original Research Background: Bicuspid aortic valve (BAV) is the most common congenital heart lesion and is associated with aortic stenosis or regurgitation, endocarditis, and/or ascending ...
Adam Larsen, David Danford, Angela Yetman   +2 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Surgical Complexity and Outcome of Patients Undergoing Re-do Aortic Valve Surgery

Open Heart, 2020
ObjectivesRe-do aortic valve surgery carries a higher mortality and morbidity compared with first time aortic valve replacement (AVR) and often requires concomitant complex procedures.
Mario Petrou, Renata Greco, Mirko Muretti, Xu Yu Jin, Jasmina Djordjevic, Elaine Hill, Maurizio Renna   +6 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Silk Fibroin for Cardiovascular Medical Devices: Review of Material Properties, Applications, and Clinical Potential

Advanced NanoBiomed Research, EarlyView.
Silk fibroin is an attractive natural biomaterial that can be engineered into diverse cardiovascular constructs, including vascular grafts, cardiac patches, heart valves, and stent coatings. Its tunable biological and mechanical properties have driven substantial preclinical progress; however, widespread clinical translation in cardiovascular ...
Mahsa Haghighattalab, Matt Govendir, Kristina Andelovic, Zachary Och, Fatemeh Karimi, Munira Xaymardan, Tomasz Jungst, Jelena Rnjak‐Kovacina, Nona Farbehi   +8 more
wiley   +1 more source

Sixteen year retrospective analysis of rheumatic and non-rheumatic heart disease patients undergoing valve procedures at Groote Schuur Hospital first incidence single aortic and mitral valve replacement [PDF]

, 2012
Includes abstract.Includes bibliographical references.Rheumatic heart disease is still the most common cause of valvular heart lesions requiring replacement or repair procedures worldwide.
Ogunrombi, Akinwumi Babatunde
core   +1 more source