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Congenital Heart Disease

GMJ News knowledge hub · last reviewed August 2026 · Georgian Medical Journal

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Congenital heart disease is the most common birth defect worldwide, affecting approximately 1 in 100 live births — around 1.3 million infants each year — and its outcomes illustrate the global inequity of surgical access more starkly than almost any other condition: in high-income settings over 90% of affected children now survive to adulthood, whereas in many low-income countries the majority of children with significant lesions die undiagnosed or untreated (WHO). Two practice points carry disproportionate weight: routine pulse oximetry screening of newborns detects critical duct-dependent lesions before the arterial duct closes and the infant collapses, at trivial cost and with high specificity, yet remains unimplemented in many countries; and the therapeutic success of paediatric cardiac surgery has created an entirely new and often poorly served population — adults with congenital heart disease now outnumber children with it, and they require lifelong specialist follow-up for arrhythmia, heart failure, reintervention and pregnancy risk that general adult cardiology is frequently not equipped to provide.

Key messages

The commonest birth defect — around 1 in 100 live births
Congenital heart disease affects approximately 1% of live births, around 1.3 million infants annually. Roughly a quarter are critical lesions requiring intervention in the first year. Outcomes illustrate global surgical inequity starkly: over 90% of affected children in high-income settings now survive to adulthood, while in many low-income countries the majority of children with significant lesions die undiagnosed or untreated, since paediatric cardiac surgery requires infrastructure, trained teams and intensive care capacity that simply do not exist in much of the world.
Newborn pulse oximetry screening detects critical lesions before collapse
Duct-dependent lesions remain stable while the arterial duct is open, then cause catastrophic collapse when it closes at 1-3 days of age — frequently after discharge. Pulse oximetry screening at 24-48 hours, measuring pre-ductal (right hand) and post-ductal (foot) saturations, detects most critical congenital heart disease with high specificity at trivial cost. It complements but does not replace antenatal ultrasound and clinical examination, since all three miss different lesions. Despite compelling evidence and endorsement by multiple national bodies, implementation remains patchy — one of the clearest examples of a cheap, proven screening test that has not been universally adopted.
Prostaglandin E1 keeps the duct open — the single most important emergency drug
A collapsed neonate with cyanosis, shock, absent femoral pulses or profound acidosis in the first two weeks of life has duct-dependent congenital heart disease until proven otherwise. Prostaglandin E1 infusion reopens and maintains the arterial duct, restoring pulmonary or systemic blood flow and converting an imminent death into a stabilised transfer for definitive care. It should be started on clinical suspicion, before echocardiography if necessary — waiting for imaging costs lives. Known adverse effects requiring preparedness: apnoea (have airway support available), hypotension, fever and, rarely, seizures.
Adults with congenital heart disease now outnumber children with it
The success of paediatric cardiac surgery has created an entirely new population. Adults with congenital heart disease now exceed children with the condition in high-income countries, and they are frequently poorly served: general adult cardiology is not equipped for repaired tetralogy of Fallot, Fontan circulation, systemic right ventricles or complex reoperation anatomy. These patients require lifelong specialist follow-up for arrhythmia, ventricular dysfunction, valve failure, conduit degeneration, endocarditis risk and pregnancy planning. Loss to follow-up during the transition from paediatric to adult services is a well-documented and dangerous failure point, and patients often present years later with advanced, avoidable complications.
Pregnancy risk must be assessed in advance, not managed as it arises
Pregnancy imposes a 30-50% increase in cardiac output that many congenital lesions tolerate poorly. The modified WHO classification stratifies maternal cardiovascular risk from class I (no detectable increased risk) to class IV, in which pregnancy is contraindicated — including pulmonary arterial hypertension, severe systemic ventricular dysfunction, severe symptomatic aortic stenosis, severe aortic dilatation and Fontan circulation with any complication. Counselling must occur BEFORE conception, must include contraception advice, and must involve a specialist multidisciplinary team. Eisenmenger syndrome carries maternal mortality estimates of 30-50% and is an absolute contraindication.
Genetic associations change screening and family counselling
Around 20-30% of congenital heart disease occurs with an identifiable genetic or syndromic association, and recognising this alters management well beyond the heart. Down syndrome: atrioventricular septal defect and ventricular septal defect, with a critical caveat that pulmonary vascular disease develops earlier, narrowing the surgical window. 22q11.2 deletion (DiGeorge): conotruncal anomalies including tetralogy of Fallot, truncus arteriosus and interrupted aortic arch, with immunodeficiency and hypocalcaemia requiring irradiated blood products. Turner syndrome: bicuspid aortic valve and coarctation, with lifelong aortic dissection risk. Noonan syndrome: pulmonary stenosis and hypertrophic cardiomyopathy. Marfan and Williams syndromes have their own characteristic lesions.

Key statistics

~1 in 100
live births affected by congenital heart disease — the commonest birth defect
WHO/Lancet
~1.3 million
infants born with congenital heart disease each year worldwide
GBD/WHO
>90%
survival to adulthood in high-income settings — versus majority mortality in many low-income countries
WHO/WCHF
Pulse oximetry
newborn screening detects critical duct-dependent lesions before collapse, at trivial cost
AAP/NICE
Prostaglandin E1
start on clinical suspicion in a collapsed neonate — do not wait for echocardiography
AHA/ESC
Adults > children
adults with congenital heart disease now outnumber affected children in high-income countries
ESC ACHD

Congenital heart disease — approximate relative frequency of lesions

Source: Registry data. Ventricular septal defect is by far the commonest; critical lesions are a minority but drive early mortality.

Glossary of key terms

Duct-dependent circulation
Paediatric cardiologyLesions in which survival after birth depends on the arterial duct remaining patent. Duct-dependent PULMONARY circulation: pulmonary atresia, critical pulmonary stenosis, severe tetralogy of Fallot, tricuspid atresia — the duct supplies lung blood flow, so closure causes profound cyanosis. Duct-dependent SYSTEMIC circulation: hypoplastic left heart syndrome, critical aortic stenosis, interrupted aortic arch, severe coarctation — the duct supplies the body below it, so closure causes shock, absent femoral pulses, acidosis and renal failure. Transposition of the great arteries depends on mixing through the duct and foramen ovale. In all cases, presentation is typically at 24 hours to 2 weeks, often after hospital discharge, and prostaglandin E1 is the immediate life-saving intervention.
Eisenmenger syndrome
CardiologyThe end result of a large uncorrected left-to-right shunt: chronic pulmonary overcirculation produces irreversible pulmonary vascular disease, pulmonary pressures rise to systemic levels, and the shunt reverses to right-to-left, causing cyanosis. Once established it is irreversible and surgical closure is contraindicated, since the defect has become the pressure-relief valve for the right ventricle. Features: cyanosis, clubbing, secondary erythrocytosis, paradoxical embolism, haemoptysis, arrhythmia and progressive right heart failure. Management is supportive with pulmonary vasodilator therapy, avoidance of dehydration and of routine venesection (which causes iron deficiency and worsens outcomes), meticulous attention to air filters on intravenous lines, and endocarditis prevention. It is a stark illustration of why timely repair of large shunts matters and why late presentation forecloses treatment options permanently.
Tetralogy of Fallot
Paediatric cardiologyThe commonest cyanotic congenital heart lesion, comprising ventricular septal defect, overriding aorta, right ventricular outflow tract obstruction and right ventricular hypertrophy. Hypercyanotic (tet) spells — acute increases in outflow obstruction causing sudden deep cyanosis, irritability and potentially collapse — are managed by knee-to-chest positioning, oxygen, morphine, fluids and, if needed, phenylephrine or beta-blockade. Surgical repair in infancy has excellent early outcomes, but repaired tetralogy is a lifelong condition: the dominant late problem is progressive pulmonary regurgitation causing right ventricular dilatation and dysfunction, with risk of ventricular arrhythmia and sudden death. Timing of pulmonary valve replacement, guided by cardiac MRI right ventricular volumes, is one of the central decisions in adult congenital heart disease.
Fontan circulation
Paediatric cardiologyThe palliative pathway for functionally univentricular hearts, in which systemic venous blood is routed directly to the pulmonary arteries without a subpulmonary ventricle, so pulmonary blood flow is driven passively by venous pressure. It is a palliation, not a correction, and creates a fundamentally abnormal physiology: chronically elevated systemic venous pressure with low cardiac output. Late complications are numerous and progressive — Fontan-associated liver disease with fibrosis and hepatocellular carcinoma risk, protein-losing enteropathy, plastic bronchitis, arrhythmia, thromboembolism, and eventual circulatory failure requiring transplantation. These patients need highly specialised lifelong follow-up including hepatic surveillance, and pregnancy carries substantial risk.
Antenatal detection and screening
Fetal medicineFetal echocardiography, performed at around 18-22 weeks as part of the anomaly scan or as a specialist study, detects a substantial proportion of major congenital heart disease — but detection rates vary enormously between services, from under 30% to over 80%, depending on training, protocol and whether outflow tract views are systematically obtained in addition to the four-chamber view. Antenatal diagnosis matters: it allows planned delivery at a centre with cardiac surgical capability, avoids the collapse-and-emergency-transfer pathway that carries significant morbidity, permits prostaglandin to be started immediately, and gives families time to understand the diagnosis and options. Indications for specialist fetal echocardiography include family history, maternal diabetes, maternal autoimmune antibodies, teratogen exposure, increased nuchal translucency and any suspected abnormality on screening.
Global paediatric cardiac surgery capacity
Global healthThe disparity is extreme: an estimated 90% of children born with congenital heart disease worldwide have no access to appropriate care. Paediatric cardiac surgery requires not just a surgeon but an entire ecosystem — trained anaesthetists, perfusionists, intensivists, cardiologists, specialist nurses, echocardiography, catheter laboratory, blood banking and paediatric intensive care — which is why capacity cannot be created by visiting surgical missions alone. The most effective models involve long-term institutional partnerships that build local teams, train local trainers, and develop sustainable programmes, complemented by regional centres of excellence serving multiple countries. This mirrors the wider Lancet Commission on Global Surgery finding that surgical capacity, not knowledge, is the binding constraint on outcomes for surgically treatable disease.

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Congenital anomaliesNewborn health and screeningBicuspid valve and valve diseaseEisenmenger syndromePregnancy in heart diseaseChild health and surgical access

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