Congenital heart disease

Congenital heart disease (CHD) is the most common birth defect, although still relatively rare. Centers for Disease Control and Prevention (CDC): facts about congenital heart defects Opens in new window Screening for fetal CHD includes ultrasonography in the second trimester of pregnancy and postpartum clinical exam; however, detection rates are low.[1]Wren C, Richmond S, Donaldson L. Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed. 1999 Jan;80(1):F49-53. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720871 http://www.ncbi.nlm.nih.gov/pubmed/10325813?tool=bestpractice.com [2]Kardasevic M, Kardasevic A. The importance of heart murmur in the neonatal period and justification of echocardiographic review. Med Arch. 2014 Aug;68(4):282-4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240565 http://www.ncbi.nlm.nih.gov/pubmed/25568554?tool=bestpractice.com [3]Wasserman MA, Shea E, Cassidy C, et al. Recommendations for the adult cardiac sonographer performing echocardiography to screen for critical congenital heart disease in the newborn: from the American Society of Echocardiography. J Am Soc Echocardiogr. 2021 Mar;34(3):207-22. https://onlinejase.com/article/S0894-7317(20)30779-3/fulltext http://www.ncbi.nlm.nih.gov/pubmed/33518447?tool=bestpractice.com ​​​ Fetal echocardiography is becoming the definitive test for diagnosis. The American Society of Echocardiography has produced recommendations for when to refer for fetal imaging, although they acknowledge there are local differences in referral indications depending on the population being screened.[4]Moon-Grady AJ, Donofrio MT, Gelehrter S, et al. Guidelines and recommendations for performance of the fetal echocardiogram: an update from the American Society of Echocardiography. J Am Soc Echocardiogr. 2023 Jul;36(7):679-723. https://onlinejase.com/article/S0894-7317(23)00206-7/fulltext

Early recognition of CHD is important because clinical presentation and deterioration may be sudden and some treatable defects may even cause death before diagnosis.[1]Wren C, Richmond S, Donaldson L. Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed. 1999 Jan;80(1):F49-53. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1720871 http://www.ncbi.nlm.nih.gov/pubmed/10325813?tool=bestpractice.com

The surgical and medical treatment of CHD has markedly improved over the last 50 years. The first successful open heart surgeries for intracardiac defects were carried out in the US in the 1950s.[5]Allen HD, Driscoll DJ, Feltes TF, et al. Moss and Adams' heart disease in infants, children, and adolescents. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins;xxv-vi.[6]Meisner H. Milestones in surgery: 60 years of open heart surgery. Thorac Cardiovasc Surg. 2014 Dec;62(8):645-50. https://www.thieme-connect.com/products/ejournals/html/10.1055/s-0034-1384802 http://www.ncbi.nlm.nih.gov/pubmed/25083834?tool=bestpractice.com [7]Cohn LH. Fifty years of open-heart surgery. Circulation. 2003 May 6;107(17):2168-70. https://www.ahajournals.org/doi/10.1161/01.CIR.0000071746.50876.E2 ​​​ It was the introduction of machines that perfused the vital organs while a surgeon carefully repaired a non-beating heart that revolutionized the field of corrective surgery. Survival well into adulthood is now expected for most babies born with CHD.[8]Brida M, De Rosa S, Legendre A, et al. Acquired cardiovascular disease in adults with congenital heart disease. Eur Heart J. 2023 Nov 14;44(43):4533-48. https://academic.oup.com/eurheartj/article/44/43/4533/7284092 http://www.ncbi.nlm.nih.gov/pubmed/37758198?tool=bestpractice.com