Congenital heart disease (CHD) refers to a range of abnormalities in the structure and function of the heart that are present at birth. It is one of the most common congenital conditions and it is a leading cause of morbidity and mortality in children, with potential long-term effects that can extend into adulthood. This article provides a review of the pathophysiology of CHD, along with its clinical manifestations, to enhance GPs’ understanding of the condition. In addition, it outlines the different secondary care referral pathways, to ensure timely and effective management for patients with suspected CHD.
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References
1.
AndreaJ (2015)
Implications of using pulse oximetry to screen for critical congenital heart disease in newborns. Nursing for Women’s Health19(4): 314–323. DOI: 10.1111/1751-486X.12217.
2.
BakrAFHabibHS (2005)
Combining pulse oximetry and clinical examination in screening for congenital heart disease. Pediatric Cardiology26(6): 832–835. DOI: 10.1007/s00246-005-0981-9.
3.
DonofrioMTMoon-GradyAJHornbergerLK, et al. (2014)
Diagnosis and treatment of fetal cardiac disease. Circulation129(21): 2183–2242. DOI: 10.1161/01.cir.0000437597.44550.5d.
4.
DowningTEKimYY (2015)
Tetralogy of Fallot. Cardiology Clinics33(4): 531–541. DOI: 10.1016/j.ccl.2015.07.002.
5.
GilworthGMiltonSChaterA, et al. (2020)
Parents’ expectations and experiences of the 6-week baby check: a qualitative study in primary care. BJGP open4(5). DOI: 10.3399/bjgpopen20X101110.
6.
HumenbergerMRosenhekRGabrielH, et al. (2011)
Benefit of atrial septal defect closure in adults: impact of age. European Heart Journal32(5): 553–560. DOI: 10.1093/eurheartj/ehq352.
7.
KangS-LBensonL (2018)
Recent advances in cardiac catheterization for congenital heart disease. F1000Research7: 370. DOI: 10.12688/f1000research.13021.1.
8.
KemperARMahleWTMartinGR, et al. (2011)
Strategies for implementing screening for critical congenital heart disease. Pediatrics128(5): e1259–e1267. DOI: 10.1542/peds.2011-1317.
9.
KnowlesRGriebschIDezateuxC, et al. (2005)
Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis. Health Technology Assessment9(44). DOI: 10.3310/hta9440.
10.
KrishnanUS (2002)
Approach to congenital heart disease in the neonate. The Indian Journal of Pediatrics69(6): 501–505. DOI: 10.1007/BF02722652.
11.
LiuYChenSZühlkeL, et al. (2019)
Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies. International Journal of Epidemiology48(2): 455–463. DOI: 10.1093/ije/dyz009.
12.
MarchiniFMeossiSPassariniG, et al. (2023)
Pulmonary valve stenosis: from diagnosis to current management techniques and future prospects. Vascular Health and Risk ManagementVolume 19: 379–390. DOI: 10.2147/VHRM.S380240.
13.
MartinGRSchwartzBNHomLA, et al. (2022)
Lessons learned from infants with late detection of critical congenital heart disease. Pediatric Cardiology43(3): 580–585. DOI: 10.1007/s00246-021-02760-5.
14.
MortonSUBrodskyD (2016)
Fetal physiology and the transition to extrauterine life. Clinics in perinatology43(3): 395–407. DOI: 10.1016/j.clp.2016.04.001.
15.
MurphyJGGershBJMcGoonMD, et al. (1990)
Long-term outcome after surgical repair of isolated atrial septal defect. New England Journal of Medicine323(24): 1645–1650. DOI: 10.1056/NEJM199012133232401.
16.
PoddarBBasuS (2004)
Approach to a child with a heart murmur. The Indian Journal of Pediatrics71(1): 63–66. DOI:10.1007/BF02725659.
17.
PugnaloniFDoniDLucenteM, et al. (2024)
Ductus arteriosus in fetal and perinatal life. Journal of Cardiovascular Development and Disease11(4): 113. DOI: 10.3390/jcdd11040113.
18.
ReddyRKMcVadonDHZyblewskiSC, et al. (2022)
Prematurity and congenital heart disease: a contemporary review. NeoReviews23(7): e472–e485. DOI: 10.1542/neo.23-7-e472.
19.
SaeedSMohamed AliAWasimD, et al. (2023)
Correlation between murmurs and echocardiographic findings; from an imaging cardiologist point of view. Current Problems in Cardiology48(2): 101479. DOI: 10.1016/j.cpcardiol.2022.101479.
20.
ShahSRParkKAlweisR (2019)
Long QT syndrome: a comprehensive review of the literature and current evidence. Current Problems in Cardiology44(3): 92–106. DOI:10.1016/j.cpcardiol.2018.04.002.
TorokRD (2015)
Coarctation of the aorta: management from infancy to adulthood. World Journal of Cardiology7(11): 765. DOI: 10.4330/wjc.v7.i11.765.
23.
van der LindeDKoningsEEMSlagerMA, et al. (2011)
Birth prevalence of congenital heart disease worldwide. Journal of the American College of Cardiology58(21): 2241–2247. DOI: 10.1016/j.jacc.2011.08.025.
24.
WarnesCA (2006)
Transposition of the great arteries. Circulation114(24): 2699–2709. DOI: 10.1161/CIRCULATIONAHA.105.592352.
25.
ZhaoLChenLizhangYangT, et al. (2020)
Parental smoking and the risk of congenital heart defects in offspring: an updated meta-analysis of observational studies. European Journal of Preventive Cardiology27(12): 1284–1293. DOI: 10.1177/2047487319831367.
