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Congenital heart disease (CHD) describes a group of structural heart problems present from birth, ranging from small holes that may close on their own to complex combinations of defects needing several operations. Thanks to advances in paediatric cardiac surgery, the great majority of children born with CHD now survive into adulthood, and adults with CHD are a growing population with their own specialist services. This page gives a general overview of CHD in adulthood and where physiotherapy fits in; individual lesions vary widely, so care is always guided by a cardiologist familiar with the specific defect.
Definition
Congenital heart disease (CHD) is a structural or functional abnormality of the heart or great vessels present at birth, arising from abnormal cardiac development in the first eight weeks of pregnancy. Defects range from simple (a small atrial or ventricular septal defect) to complex (tetralogy of Fallot or single-ventricle physiology), and severity — not diagnosis alone — determines management and prognosis.1,2
Pathophysiology
CHD alters the normal circulation in one or more ways: a shunt between the left and right sides of the heart, obstruction to blood flow, or abnormal connections of the great vessels. Over years, an unrepaired or palliated defect produces chronically abnormal pressures and volumes in the heart chambers, leading to hypertrophy, dilation, arrhythmia, valve dysfunction and eventually heart failure or pulmonary hypertension — which is why lifelong surveillance continues even after successful repair in childhood.1
Shunt lesions
Left-to-right shunting (atrial or ventricular septal defect, patent ductus arteriosus) volume-loads the pulmonary circulation. If untreated and large, pulmonary vascular resistance rises until the shunt reverses — Eisenmenger syndrome — at which point the defect is no longer closable and management becomes that of severe pulmonary vascular disease.
Obstructive lesions
Coarctation of the aorta, pulmonary and aortic stenosis pressure-load the relevant ventricle. Even after successful repair, coarctation carries lifelong risks of hypertension, re-coarctation and aortopathy, so a "fixed" coarctation still needs review.
Complex and univentricular physiology
Where a biventricular repair is impossible, staged palliation ends in a Fontan circulation, in which systemic venous blood flows passively to the lungs with no sub-pulmonary pump. Output then depends on low pulmonary vascular resistance, adequate preload and, importantly for physiotherapy, the respiratory pump — which is why breathing mechanics and skeletal-muscle function matter more here than in almost any other cardiac condition.
Co-morbidities
Adults with CHD carry both the legacy of their original defect and repair (residual shunts, valve regurgitation or stenosis, arrhythmia, reduced ventricular function) and, increasingly, acquired adult conditions such as hypertension and coronary artery disease layered on an already-altered circulation. Pulmonary hypertension can develop with long-standing shunts and materially changes prognosis and exercise prescription.3 Some syndromic causes (Down syndrome, 22q11 deletion) bring additional health considerations. Arrhythmia is the commonest reason for unplanned admission in this population.
Prevalence
CHD is the most common group of birth defects, affecting roughly 1 in 100 live births, with about a quarter classed as severe. Survival to adulthood has improved dramatically, and adults with CHD now outnumber children with the condition in high-income countries — a population that continues to grow, and one whose care needs were not anticipated when the surgical techniques that created it were developed.2
Causes and risk factors
Most CHD arises from a combination of genetic and environmental factors acting during early pregnancy, and in most individual cases no single cause is identified. Recognised contributors include chromosomal conditions (Down syndrome, 22q11.2 deletion/DiGeorge syndrome, Turner syndrome), single-gene syndromes, maternal conditions during pregnancy (poorly controlled diabetes, rubella infection, some medications) and, in a minority, a family history of CHD. Parents frequently look for a cause in their own behaviour; in most cases there is none to find, and saying so plainly is part of good care.
Symptoms
By lesion and severity
Presentation depends entirely on the defect. Simple defects may cause no symptoms and be found incidentally on a murmur. More significant defects cause breathlessness on exertion, reduced exercise tolerance, palpitations, cyanosis or clubbing, recurrent chest infections, and growth issues in childhood.
Exercise intolerance
Objectively measured exercise capacity in adults with CHD is substantially reduced — in many lesion groups to levels comparable with chronic heart failure — and it predicts hospitalisation and mortality independently of the anatomical diagnosis.4 Patients often do not report this, because a capacity they have had since childhood feels normal to them. Measuring it is therefore more informative than asking about it.
Recognising deterioration
New or worsening breathlessness, palpitations, syncope, ankle or abdominal swelling, or a fall in exercise tolerance in an adult with known CHD warrants prompt review by the adult congenital heart disease (ACHD) service rather than general assessment.
Diagnosis
Why diagnosis matters
Precise anatomical and physiological diagnosis dictates everything downstream — surveillance interval, arrhythmia risk, exercise prescription, pregnancy risk and the timing of reintervention. Two people with the same lesion name and different repairs may need entirely different care.1
How is it diagnosed?
Many defects are detected on antenatal ultrasound or in the newborn period on examination or pulse-oximetry screening; others are found later in childhood or adulthood. Adults with CHD are ideally reviewed at a specialist ACHD service, which risk-stratifies ongoing surveillance.1,2
Imaging
Echocardiography is the primary tool at every stage. Cardiac MRI is the reference standard for right-ventricular volumes and pulmonary regurgitation — central to timing pulmonary valve replacement after tetralogy repair — and CT is used where MRI is contraindicated or the coronaries and conduits need definition.1
Cardiopulmonary exercise testing
CPET quantifies functional capacity objectively, tracks change over years, informs exercise prescription, and carries independent prognostic weight in this population.4 It is one of the most useful investigations in ACHD and one of the most under-used.
Investigations for related conditions
Assessment for pulmonary hypertension, arrhythmia (ambulatory monitoring), liver disease in Fontan patients, iron deficiency in cyanotic patients, and renal function forms part of routine ACHD surveillance.3
Management
Management and goals
The goals are to preserve ventricular function, prevent and treat arrhythmia, time reintervention correctly, support a full life including work and pregnancy where possible, and maintain functional capacity. Lifelong follow-up is recommended for all but the simplest fully repaired defects.1
Treatment options
Many defects are treated in infancy or childhood with surgical repair, staged palliative surgery, or catheter-based procedures (device closure of septal defects, balloon valvuloplasty). Adults may need further intervention for residual lesions, valve replacement, arrhythmia treatment (ablation, pacemaker or defibrillator) or, in a minority, heart transplantation.2
Transition from paediatric to adult care
Loss to follow-up during adolescence is a well-documented and preventable cause of late presentation with advanced disease. Structured transition programmes improve knowledge and engagement, and the handover is a clinical intervention in its own right rather than an administrative step.5
Identifying deterioration
Falling exercise tolerance, new arrhythmia, rising oxygen requirement or new oedema signal a change in physiology. In Fontan patients, ascites, protein-losing enteropathy and unexplained weight change are specific warnings.
Action plan
- Stay connected to the ACHD service — attend review even when well, and re-engage if follow-up has lapsed.
- Report new breathlessness, palpitations, blackout or swelling promptly.
- Carry a summary of the defect, the repair and any device, and show it to every new clinician.
- Keep dental health under review and follow endocarditis-prevention advice.
- Plan pregnancy and major surgery with the ACHD team, in advance.
Medications
Medications in congenital heart disease
There is no single drug regimen. Treatment is directed at the physiological consequence — heart-failure therapy for systemic ventricular dysfunction, rate or rhythm control and anticoagulation for arrhythmia, diuretics for congestion, and pulmonary vasodilator therapy in selected patients with pulmonary arterial hypertension including Eisenmenger physiology.1
Anticoagulation and endocarditis prevention
Anticoagulation decisions in ACHD do not always follow general atrial-fibrillation scoring, and are made by the ACHD team. Antibiotic prophylaxis before certain dental procedures applies to defined high-risk groups — prosthetic valves and material, prior endocarditis, and unrepaired or recently repaired cyanotic lesions.2
Multi-system manifestations
Liver
Fontan-associated liver disease — chronic congestion progressing to fibrosis and, in some, cirrhosis and hepatocellular carcinoma — is now recognised as an expected long-term consequence of the Fontan circulation and is screened for systematically.
Blood and iron
Chronic cyanosis drives secondary erythrocytosis. The critical clinical point is that these patients are frequently iron deficient despite a high haemoglobin, and iron-deficient erythrocytosis causes symptoms and stroke risk; routine venesection is harmful and largely obsolete.
Kidneys
Cardiorenal dysfunction is common in cyanotic and Fontan physiology and predicts poor outcomes; it also constrains contrast imaging and diuretic strategy.
Neurodevelopment and mental health
Complex CHD and its neonatal surgery are associated with measurable neurodevelopmental differences, and rates of anxiety and depression in adults with CHD are high. Both are under-identified and treatable.
Pulmonary vasculature
Long-standing shunts remodel the pulmonary circulation, and established pulmonary arterial hypertension changes prognosis, operability and exercise prescription more than almost any other complication.3
Living with congenital heart disease
Activity and exercise
Exercise is beneficial for most adults with CHD and is prescribed individually against the specific lesion, repair, ventricular function and arrhythmia risk rather than by blanket restriction.6 Australian and international recommendations now favour participation with lesion-specific limits, because the harms of lifelong inactivity in this group are real and cumulative.7
Pregnancy and contraception
Pregnancy risk ranges from negligible to prohibitive depending on the lesion, and is best assessed before conception by the ACHD team. Contraceptive choice is also lesion-dependent — oestrogen-containing methods are avoided in several groups.1
Dental care and infection prevention
Dental hygiene, prompt treatment of skin infection, and influenza and pneumococcal vaccination are emphasised across the ACHD population.2
Travel and altitude
Most adults with repaired simple lesions travel without restriction. Cyanotic disease, Eisenmenger physiology, Fontan circulation and pulmonary hypertension warrant advice before flying or travelling to altitude, and attention to hydration and thromboprophylaxis on long journeys.
Growing up with a heart condition
Adults with CHD frequently describe having been treated as fragile throughout childhood, and confidence often lags well behind measured capacity. Addressing this is part of rehabilitation, not separate from it.5
Prognosis
Outlook varies enormously with the specific defect and its repair. Adults with simple, fully repaired lesions generally have a near-normal life expectancy. Those with complex or palliated physiology face ongoing risks of heart failure, arrhythmia and reduced longevity, though outcomes continue to improve as adult congenital cardiology matures. Objectively measured exercise capacity is among the strongest available predictors of hospitalisation and survival — which is a genuine argument for measuring and training it, not merely observing it.4
Role of the physiotherapist
Exercise is prescribed according to lesion, repair, current ventricular function and arrhythmia risk, with the treating ACHD cardiologist setting intensity and any restrictions. Within that frame the physiotherapist does substantial work:
- Structured aerobic training — exercise training programmes in children and young adults with CHD improve exercise capacity without evidence of harm.8
- Resistance training in Fontan physiology — improves cardiac output and exercise capacity, contrary to long-standing assumptions that strength work is hazardous in this group.9
- Perioperative and intensive-care physiotherapy — chest care, early mobilisation and sternal management after surgical repair or reintervention.10
- Confidence and capacity — rebuilding function in people who have been limited, or told they were limited, since childhood.
Close liaison with the cardiology team and monitoring for exertional symptoms are central to safe, effective care.
Warning signs
Part 1 · References
- Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J 2021;42(6):563–645.
- Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease. Circulation 2019;139(14):e698–e800.
- Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2022;43(38):3618–3731.
- Diller GP, Dimopoulos K, Okonko D, et al. Exercise intolerance in adult congenital heart disease: comparative severity, correlates, and prognostic implication. Circulation 2005;112(6):828–835.
- Mackie AS, Islam S, Magill-Evans J, et al. Healthcare transition for youth with heart disease: a clinical trial. Heart 2014;100(14):1113–1118.
- Budts W, Börjesson M, Chessa M, et al. Physical activity in adolescents and adults with congenital heart defects: individualized exercise prescription. Eur Heart J 2013;34(47):3669–3674.
- Tran D, Maiorana A, Ayer J, et al. Recommendations for exercise in adolescents and adults with congenital heart disease. Prog Cardiovasc Dis 2020;63(3):350–366.
- Duppen N, Takken T, Hopman MTE, et al. Systematic review of the effects of physical exercise training programmes in children and young adults with congenital heart disease. Int J Cardiol 2013;168(3):1779–1787.
- Cordina RL, O'Meagher S, Karmali A, et al. Resistance training improves cardiac output, exercise capacity and tolerance to positive airway pressure in Fontan physiology. Int J Cardiol 2013;168(2):780–788.
- Hoffman M, Van Hollebeke M, Clerckx B, et al. Physiotherapy in paediatric cardiac intensive care: current practice and evidence. Paediatr Respir Rev 2021;38:59–66.
References are numbered in citation order (Vancouver/BMJ style) and were current at the time of writing. Guidelines are living documents — verify against the latest version before clinical use.
Supervised exercise, breathing technique and self-management education are the mainstay of cardiorespiratory physiotherapy for this condition.
Clinical evidence
Part 1 covers the same condition without the technical detail. What follows is the evidence base behind it, written for clinicians — the literature, the reasoning and the gaps.
For clinicians: this summary supports clinical reasoning and is not a protocol. Check current guidelines and local policy before applying it, and read it alongside the key references and guidelines directory.
Framing. Adults with congenital heart disease now outnumber children with it, and the ESC and AHA/ACC guidelines both stress lifelong specialist follow-up with anatomy- and physiology-based risk stratification rather than diagnosis labels alone.1,2 Exercise intolerance in this population is common, frequently under-recognised, and independently predicts hospitalisation and mortality — which makes objective exercise assessment a clinical measure, not a fitness curiosity.3
Exercise training and prescription
- Training is safe and effective across lesion types. Systematic review of exercise programmes in children and young adults with CHD shows improved exercise capacity with no serious adverse events attributable to training.4
- Fontan circulation responds to the right stimulus. Resistance training improved cardiac output, exercise capacity and tolerance of positive airway pressure in Fontan physiology — important because these patients are preload-dependent and often wrongly advised to avoid strength work altogether.5
- Prescription is individualised by anatomy and physiology, not by diagnosis: current recommendations frame decisions around ventricular function, residual obstruction, arrhythmic risk, aortopathy, cyanosis and pulmonary hypertension.6,7
- CHD-associated pulmonary arterial hypertension (including Eisenmenger syndrome) is managed in specialist PH services; supervised low-to-moderate rehabilitation is supported, and desaturation with exertion is expected rather than correctable.8
Perioperative and paediatric care
- Post-cardiac-surgery children benefit from early mobilisation, positioning and attention to atelectasis and pain-limited breathing; routine percussive treatment of a clear chest is not indicated.9
- Feeding difficulty, growth failure and delayed gross-motor milestones are common in infants with significant lesions and shape both goals and session tolerance.2
- Transition from paediatric to adult services is a recognised failure point, with loss to follow-up associated with worse outcomes — physiotherapy contact is an opportunity to check that specialist review is still in place.1,10
Physiotherapy implications
- Get the anatomy and the current physiology before prescribing. "Repaired tetralogy" and "Fontan" carry entirely different rules; obtain the cardiologist's parameters, most recent imaging summary and arrhythmia status.6
- Avoid heavy isometric loading and Valsalva where there is aortopathy, significant residual obstruction, systemic right ventricle or a mechanical valve on anticoagulation; use submaximal graded resistance instead.
- In cyanotic and Fontan patients: maintain hydration, avoid prolonged standing and excessive heat, expect exertional desaturation, and prescribe by symptoms and RPE rather than a saturation target.5,8
- Use objective measures — six-minute walk, cardiopulmonary exercise testing where available — both to prescribe and to detect deterioration, since patients habitually normalise a lifelong limitation.3
- Escalate new arrhythmia symptoms, syncope or pre-syncope, a fall in exercise tolerance, new cyanosis or oedema, and any suspicion of endocarditis (fever with a prosthetic valve or shunt) the same day.
Clinical reasoning
- Distinguish a lifelong stable ceiling from a new decline — the second is a cardiology question, the first is a rehabilitation opportunity.
- Deconditioning, iron deficiency, arrhythmia and anxiety-driven hyperventilation all mimic haemodynamic deterioration; screen before intensifying training.
- Overprotection is the more common harm: most patients have been under-exercised rather than over-exercised, and permission to train is often the intervention.4,7
- Pregnancy, altitude and competitive sport are specialist decisions; refer rather than advise.
Evidence gaps
- Trials are small, heterogeneous and dominated by young, well-functioning participants; lesion-specific prescriptions rest largely on physiological reasoning.4
- Optimal intensity, modality and long-term maintenance in Fontan and systemic-right-ventricle physiology remain unresolved.
- Little evidence guides rehabilitation in older adults with CHD, now the fastest-growing part of the population.
- The effect of structured exercise on hard outcomes — arrhythmia, heart failure admission, survival — has not been tested.
References for the clinical evidence summary
- Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J 2021;42(6):563–645.
- Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease. Circulation 2019;139(14):e698–e800.
- Diller GP, Dimopoulos K, Okonko D, et al. Exercise intolerance in adult congenital heart disease: comparative severity, correlates, and prognostic implication. Circulation 2005;112(6):828–835.
- Duppen N, Takken T, Hopman MTE, et al. Systematic review of the effects of physical exercise training programmes in children and young adults with congenital heart disease. Int J Cardiol 2013;168(3):1779–1787.
- Cordina RL, O'Meagher S, Karmali A, et al. Resistance training improves cardiac output, exercise capacity and tolerance to positive airway pressure in Fontan physiology. Int J Cardiol 2013;168(2):780–788.
- Budts W, Börjesson M, Chessa M, et al. Physical activity in adolescents and adults with congenital heart defects: individualized exercise prescription. Eur Heart J 2013;34(47):3669–3674.
- Tran D, Maiorana A, Ayer J, et al. Recommendations for exercise in adolescents and adults with congenital heart disease. Prog Cardiovasc Dis 2020;63(3):350–366.
- Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2022;43(38):3618–3731.
- Hoffman M, Van Hollebeke M, Clerckx B, et al. Physiotherapy in paediatric cardiac intensive care: current practice and evidence. Paediatr Respir Rev 2021;38:59–66.
- Mackie AS, Islam S, Magill-Evans J, et al. Healthcare transition for youth with heart disease: a clinical trial. Heart 2014;100(14):1113–1118.
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