Congenital Heart Disease (CHD)

Congenital heart disease (CHD) includes structural defects in the heart that are present at birth and represents the most common type of congenital malformation in humans¹. These defects can affect blood flow through the heart and into the body, causing varying degrees of impairment ranging from mild to life-threatening conditions.

CHD is a significant cause of morbidity, disability, and mortality in both children and adults, and remains the leading cause of pediatric intensive care admissions and infant mortality worldwide².

Disease Burden and Epidemiology

Globally, nearly 12 million people live with congenital heart disease, and survival has increased significantly in recent decades thanks to advances in diagnostics and treatment³. The prevalence is approximately 1 in 100 live births, with the highest incidence reported in regions with well-established screening programs³. In underdeveloped areas, many children receive little or no treatment, leading to high mortality and long-term disability⁷.

CHD is the most frequent cause of non-communicable disease and death among children under the age of five and ranks among the six leading causes of infant mortality worldwide⁴. In Africa alone, more than 500,000 children are born each year with CHD, most of whom lack access to cardiac care⁷. Due to improvements in surgery, interventional procedures, and medical management, an increasing number of children now grow up to become adults living with congenital heart disease³.

Clinical Significance and Development

Despite major advances in treatment, many procedures remain palliative rather than curative. Survivors often live with residual defects, impaired circulation, or electrical conduction abnormalities, and face an increased risk of later cardiac complications, including heart failure or arrhythmias⁵. The complexity of CHD means that most patients require lifelong follow-up within specialized healthcare services.

Types of Congenital Heart Disease

There are many different forms of congenital heart disease (CHD), usually grouped into four main categories:

Obstructive defects

Block blood flow out of the heart or through the great vessels, potentially leading to heart failure early in life.

• Aortic stenosis (AS)

• Pulmonary stenosis (PS)

• Bicuspid aortic valve

• Subaortic stenosis

• Coarctation of the aorta (COA)

Septal defects

Openings between the heart’s chambers that allow mixing of oxygenated and deoxygenated blood.

• Atrial septal defect (ASD)

• Ventricular septal defect (VSD, the most common defect in children and the second most common in adults)¹

Cyanotic defects

Reduced oxygen levels in the blood cause bluish discoloration of the skin and mucous membranes (cyanosis).

• Tetralogy of Fallot

• Tricuspid atresia

• Transposition of the great arteries

Other defects

• Hypoplastic left heart syndrome (HLHS)

• Patent ductus arteriosus (PDA)

• Ebstein’s anomaly⁹

Causes and Risk Factors

Most congenital heart defects result from abnormal heart development early in fetal life. For many children no clear cause is identified, but known risk factors include:

• Genetic and chromosomal disorders (Down syndrome, Turner syndrome, 22q11.2 deletion, 1p36 deletion, Noonan syndrome)¹⁰ ¹¹

• Family history or previous child with CHD

• Maternal health: diabetes, certain infections (e.g., rubella), and use of some medications (ACE inhibitors for hypertension, retinoids for acne)

• Smoking or passive smoking during pregnancy²

• Heavy alcohol consumption in the first trimester¹⁰

• Age and sex: some types are more common in boys than girls

• Environmental exposures and chemicals during pregnancy

Diagnosis

CHD can sometimes be detected prenatally by ultrasound, but is often discovered shortly after birth due to abnormal heart sounds or symptoms such as cyanosis, breathing difficulties, failure to thrive, or a heart murmur. In high-income countries, nearly all newborns are screened for heart defects in the first days of life, while in low-income regions early detection is more challenging.

Typical investigations include:

• Clinical examination (cyanosis, breathing pattern, murmur, overall condition)

• Oxygen saturation and pulse measurement

• Echocardiography (heart ultrasound)

• ECG for conduction abnormalities

• Chest X-ray or MRI for complex conditions

Some heart defects are not identified until adulthood, especially if symptoms are mild.

Complications

Complications of congenital heart disease can be severe, particularly when diagnosis or treatment is delayed. They may be divided into cardiac and non-cardiac sequelae.

Cardiac complications

• Heart failure (reduced pumping function)

• Severe cyanosis (oxygen deficiency with bluish discoloration)

• Arrhythmias and conduction disturbances

• Recurrence of defects after surgery or catheter intervention

• Increased risk of endocarditis (infection of the heart valves)

• Secondary valvular disease and need for reoperation¹² ¹³ ¹⁴

Non-cardiac complications

• Liver impairment or liver failure (especially with prolonged heart failure)

• Endocrine and immunological complications¹⁵

• Increased risk of neurological complications, including stroke, seizures, and cognitive difficulties¹⁶

• Hematological disorders, including clotting or bleeding problems¹⁴

• Respiratory infections and impaired lung function

• Risk of malnutrition or growth restriction in children

• Side effects from medications¹⁷ ¹⁸ ¹⁹

These complications often result from a combination of congenital defects, infections, malnutrition, and treatment side effects. Lifelong follow-up is required to detect and manage such challenges.

Treatment and Follow-up

The treatment depends on the type and severity of the heart defect:

Medication

Used to support heart function, reduce fluid accumulation, prevent blood clots, and protect against arrhythmias.

Surgery

Many children with severe defects require surgical correction during the first year of life. Some will need repeated procedures or lifelong follow-up of previous operations.

Catheter-based procedures

Several defects can be treated with so-called interventions through the blood vessels (e.g., closure of septal defects or dilation of stenotic valves).

Lifelong follow-up

All individuals with congenital heart disease should be followed by a cardiologist throughout life, with regular check-ups to detect complications or the need for new interventions².

Mild defects often require no treatment but careful observation. More severe or complex conditions may require repeated treatments throughout life.

Physiotherapy

Physiotherapy and rehabilitation play a central role in the follow-up of children and adults with congenital heart disease – both before and after treatment.

Lifestyle counseling

The physiotherapist provides education on the importance of physical activity, healthy diet, and maintaining a normal weight. This reduces the risk of obesity, high blood pressure, and progression of heart problems. Growth and development are monitored, especially in children after surgery or intensive care.

Physical activity

Most individuals with congenital heart disease can and should be physically active. Physical activity improves fitness, strength, mental health, and reduces risk factors for cardiovascular disease.For most children with uncomplicated or moderate defects, the same recommendations as for healthy children apply: daily physical activity, including play and sports.

Children with more complex defects, pacemakers, implanted defibrillators, or risk of serious arrhythmias require individually tailored exercise programs, preferably in collaboration with a cardiologist and through cardiac rehabilitation groups²⁰. If there is uncertainty about the activity level, an activity certificate may be provided to schools or sports clubs.

Reduced activity level

Research shows that many children and adolescents with congenital heart disease are less physically active than recommended, often due to excessive caution or lack of information from healthcare professionals. A sedentary lifestyle increases the risk of obesity, reduced fitness, and poorer long-term prognosis. The goal is to ensure that everyone, including those with complex defects, has access to adapted and safe physical activity.

Long-term follow-up and multidisciplinary approach

The physiotherapist often collaborates in a team with physicians, nurses, dietitians, and psychologists. The purpose is to support the child and family in coping with daily life, increasing independence, and providing advice on physical activity throughout life.

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