The introduction and diffusion of cross-sectional echocardiography at the end of 1970s significantly improved case ascertainment and allowed the identification of congenital heart defects with a significant increase of mild forms. However, the prevalence of severe congenital heart disease (CHD), which represented 11.7% of overall cardiovascular malformations, remained quite stable (less than 1 per 1000 live births). In past decades, a new population of adults with CHD emerged who need specialized care in centres with trained and experienced professional staff with a different level of expertise. Clinical implications of this new scenario are discussed in this article.
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http://dx.doi.org/10.2459/JCM.0b013e32834743cf | DOI Listing |
Clin Neuropsychol
December 2024
Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
: While it is generally assumed that common neurobehavioral assessments, such as the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV), function similarly in clinical and non-clinical populations, this has not been validated in adults with congenital heart disease (CHD). In this study, we examined the latent factor structure of the WAIS-IV in adults with d-transposition of the great arteries (d-TGA) who participated in the Boston Circulatory Arrest Study. : The WAIS-IV was administered as part of a larger assessment battery.
View Article and Find Full Text PDFTransplant Proc
December 2024
Heart Failure and Transplantation Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Department of Cardiology, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Department of Medicine, Universidad de Valencia, Spain.
Background: A high percentage of patients with congenital heart diseases (CHD) reach adulthood and, over time, require heart transplantation (HTx) or combined heart-lung transplantation (HLTx). Among CHD, there are subgroups associated with a higher risk.
Methods: Retrospective analysis of HTx and HLTx in CHD patients.
Eur J Med Genet
December 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Key Laboratory of Freshwater Fish Reproduction and Development, Ministry of Education, State Key Laboratory Breeding Base of Eco-Environments and Bio-Resources of the Three Gorges Reservoir Region, School of Life Sciences, Southwest University, Chongqing 400715, China.
Heterozygotic mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. However, there is lack of an animal that can comprehensively model these diseases since GATA6 is essential for early embryogenesis. Here, we report the establishment of a knockout zebrafish which recapitulates most of the symptoms in patients with mutations, including cardiac outflow tract defects, pancreatic hypoplasia/agenesis, gallbladder agenesis, and various liver diseases.
View Article and Find Full Text PDFPrenat Diagn
December 2024
Children's Heart Center Nevada, Las Vegas, Nevada, USA.
Objective: To report our recent experience with prenatal detection of significant cardiovascular malformations (CVMs) in Nevada's state-wide maternal population receiving prenatal care.
Methods: We queried our databases for those with significant CVMs diagnosed pre- or postnatally between May 1, 2021, and April 30, 2024. We defined CVMs as those that required, would have required, or will likely require a therapeutic procedure in the first 12 months.
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