Purpose Of Review: To review the incidence of congenital heart disease in the trisomies, highlight the history of cardiac surgery in trisomy 21 comparing it to the increase in cardiac surgery in trisomies 13 and 18, discuss ethical issues specific to trisomies 13 and 18, and suggest a pathway of shared decision-making in the management of congenital heart disease in trisomy 13 and 18, specifically congenital heart surgery.
Recent Findings: Congenital heart disease is prevalent in the trisomies and the management of these defects, especially surgical intervention, has changed. In the late 20th century, survival after cardiac surgery in trisomy 21 vastly improved, significantly decreasing morbidity and mortality secondary to pulmonary hypertension. Similarly, procedures and surgeries have been performed with increasing frequency in trisomy 13 and 18 patients and concomitantly, survival in this patient population is increasing. Yet across the United States, the willingness to perform cardiac surgery in trisomy 13 and 18 is variable, and there is ethical controversy about the correct action to take. To address this concern, a shared decision-making approach with an informed parent(s) is advised.
Summary: As the care and management of congenital heart disease changed in trisomy 21, so too it has with trisomy 13 and 18. Physicians and parents should develop goal-directed treatment plans balancing the risk versus benefit and consider cardiac surgical repair if feasible and beneficial.
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http://dx.doi.org/10.1097/MOP.0000000000001278 | DOI Listing |
Dev Growth Differ
January 2025
Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Sonic Hedgehog (Shh), encoding an extracellular signaling molecule, is vital for heart development. Shh null mutants show congenital heart disease due to left-right asymmetry defects stemming from functional anomaly in the midline structure in mice. Shh signaling is also known to affect cardiomyocyte differentiation, endocardium development, and heart morphogenesis, particularly in second heart field (SHF) cardiac progenitor cells that contribute to the right ventricle, outflow tract, and parts of the atrium.
View Article and Find Full Text PDFSurvivorship from congenital heart disease has improved rapidly secondary to advances in surgical and medical management. Because these patients are living longer, treatment and disease surveillance targets have shifted toward enhancing quality of life and functional status. Cardiopulmonary exercise testing is a valuable tool for assessing functional capacity, evaluating cardiac and pulmonary pathology, and providing guidance on prognosis and interventional recommendations.
View Article and Find Full Text PDFCirculation
January 2025
Division of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics (L.W., M.J.O., H.A., J.E., K.Y.L., C.W.-W., J.R., J.B.E.), University of Pennsylvania, Philadelphia.
Background: The United Network of Organ Sharing made changes to the priority for allocation of hearts for transplantation (HT) in 2016 for pediatric patients and 2018 for adult patients. Although recent work has evaluated the impact of the revised allocation systems on mechanical circulatory support practices and waitlist outcomes, there are limited data that focus more specifically on the impact of the allocation changes on patients with congenital heart disease (CHD) or cardiomyopathy and how these relationships might differ in pediatric and adult patients.
Methods: The United Network of Organ Sharing database was queried for pediatric (<18 years of age) and adult (18-50 years of age) patients with a CHD or cardiomyopathy diagnosis listed for HT.
Future Cardiol
January 2025
Department of Cardiovascular Surgery, Arkansas Children's Hospital, Little Rock, AR, USA.
Heart valve replacement is indicated for children with irreparable heart valve disease. These replacements come in a variety of forms including mechanical, xenograft tissue, allograft tissue, and autograft tissue valves. These options each have unique benefits and risks profiles.
View Article and Find Full Text PDFInt J Med Sci
January 2025
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital. Beijing 100026, China.
A multitude of studies have presented inconsistent outcomes regarding the association between maternal folic acid (FA) and/or multivitamin (MV) supplementation and congenital heart disease (CHD) in offspring. This study aimed to estimate supplementation time and CHD based on a prospective China birth cohort study (CBCS). In the CBCS, 114,670 singleton pregnant women who had pregnancy outcomes until August 2021 and responded to the early pregnancy questionnaire were recruited.
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