Results 71 to 80 of about 18,668 (219)

Mitral regurgitation and decompensated heart failure in a young pregnant pony mare: An aetiological challenge

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old, 6‐month pregnant, Welsh pony mare presented with severe acute clinical signs including depression, anorexia, pale mucous membranes, tachycardia with a grade 4/6 holosystolic murmur and moderate expiratory dyspnoea with diffuse wheezes. There was no evidence of placentitis or fetal distress.
M. F. David, L. Cannon, A. Tortereau, A. Thomas‐Cancian, I. Desjardins   +4 more
wiley   +1 more source

New Developments in the Treatment of Hypoplastic Left Heart Syndrome

, 2020
In the current decade, the prognosis of newborns with hypoplastic left heart syndrome, previously considered a uniformly fatal condition, has dramatically improved through refinement of rapidly evolving treatment strategies.
MD a , Jayme Bennetts, MD Christopher A Caldarone, MD Bahaaldin Alsoufi, MD Subodh Verma   +3 more
core  

Generation of the maternal iPSC line NCHi030-A from an unaffected heterozygous NOTCH1 variant carrier in a family with hypoplastic left heart syndrome

Stem Cell Research
Mutations in the NOTCH1 gene are associated with a higher incidence of hypoplastic left heart syndrome (HLHS) in newborns. NCHi030-A is an iPSC line derived from peripheral blood mononuclear cells of the unaffected mother of a patient with hypoplastic ...
John Winbigler, Matthew Alonzo, Aaron Argall, Yang Yu, Ming-Tao Zhao   +4 more
doaj   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Machine Learning in Identifying Marker Genes for Congenital Heart Diseases of Different Cardiac Cell Types

Life
Congenital heart disease (CHD) represents a spectrum of inborn heart defects influenced by genetic and environmental factors. This study advances the field by analyzing gene expression profiles in 21,034 cardiac fibroblasts, 73,296 cardiomyocytes, and 35,
Qinglan Ma, Yu-Hang Zhang, Wei Guo, Kaiyan Feng, Tao Huang, Yu-Dong Cai   +5 more
doaj   +1 more source

Use of echocardiographic subxiphoid five-sixth area length (bullet) method in evaluation of adequacy of borderline left ventricle in hypoplastic left heart complex

Annals of Pediatric Cardiology, 2015
Indexed left ventricular end-diastolic volume (ILVEDV) is commonly used in evaluating "borderline left ventricle (LV)" in hypoplastic left heart complex (HLHC) to determine if the LV can sustain adequate systemic cardiac output.
Justin T Tretter, Sujata Chakravarti, Puneet Bhatla   +2 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
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

Changing attitudes to the management of hypoplastic left heart syndrome: a European perspective

, 2011
Background and aimsSeveral years ago, one of us described the difference in attitude to patients with hypoplastic left heart syndrome in the United States of America and Europe as similar to that between Mars and Venus. Uncertainty remains with regard to
Martin J. Elliott, Bari Murtuza
core   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source