Congenital Heart Disease

Congenital heart disease means a structural problem of the heart or great vessels that is present from birth. It affects nearly 1 in 100 babies and ranges from small holes that close unaided to complex defects needing several operations in infancy.

Thanks to surgery and catheter treatments, more than 9 in 10 children with congenital heart disease now reach adulthood. Most are repaired, not cured, and need lifelong review by specialists in adult congenital heart disease for rhythm problems, valve wear and heart failure that can appear decades later.

Symptome

• In babies: blue or grey colour of lips and skin, fast breathing, sweating or tiring during feeds, poor weight gain
• A heart murmur found at a routine check
• In children: breathlessness or tiring sooner than peers, repeated chest infections, fainting on exertion
• In adults: palpitations, reduced exercise capacity, ankle swelling
• High blood pressure with weak leg pulses in coarctation
• Stroke at a young age in some people with a hole between the upper chambers
• No symptoms at all, with the defect found on an echo done for another reason

Ursachen und Risikofaktoren

In most children no single cause is found; the heart forms in the first 8 weeks of pregnancy and development can go wrong through a mix of genetic and environmental influences. Known associations include chromosomal conditions such as Down, Turner and 22q11 deletion syndromes, single-gene conditions, maternal diabetes, rubella infection in pregnancy, alcohol, and some medicines such as certain anti-epileptic drugs, lithium and isotretinoin. Having a parent or sibling with a defect raises the risk to around 3 to 5 in 100.

Wie es diagnostiziert wird

• Fetal echocardiography: From about 18 to 22 weeks of pregnancy when a routine scan or family history raises concern.
• Newborn pulse oximetry and examination: Detects low oxygen levels and murmurs before discharge.
• Echocardiography: The main test at every age; defines the anatomy in most cases.
• ECG and Holter: Rhythm and conduction, important after surgical repairs.
• Cardiac MRI or CT: Detailed anatomy and right ventricular measurements, for example after tetralogy of Fallot repair.
• Cardiac catheterisation: Measures pressures and lung vascular resistance, and is often combined with treatment.
• Exercise testing and genetic assessment: Objective capacity in adults; genetic review when a syndrome is suspected.

Behandlungsmöglichkeiten

• Watchful waiting: Many small VSDs and ASDs close or never cause harm and only need periodic review.
• Catheter interventions: Device closure of ASD, PDA and some VSDs, balloon opening of narrowed valves, stenting of coarctation, and transcatheter pulmonary valve replacement.
• Corrective surgery: Repair of septal defects, tetralogy of Fallot, arterial switch for transposition, coarctation repair and valve surgery.
• Staged palliation: A series of operations ending in the Fontan circulation for hearts with one working ventricle.
• Medicines and rhythm treatment: Heart failure drugs, anticoagulation, ablation, pacemakers and ICDs.
• Pregnancy counselling and lifelong follow-up: Risk assessment before conception and joint obstetric and cardiac care.

Wenn es dringend ist

A baby who is blue, breathing fast, floppy or not feeding needs emergency care immediately at the nearest hospital. At any age, fainting during exertion, sustained palpitations, coughing blood, or fever lasting more than a few days in someone with a repaired or unrepaired defect (possible endocarditis) need urgent local assessment.

Reisen nach Türkiye zur Behandlung

Planned procedures in stable children and adults, such as ASD or PDA device closure, coarctation stenting or elective valve surgery, can be organised as medical travel after remote review of echo images. Sick newborns and complex staged surgery are not suitable: they need transfer between specialist units and continuity with one team. Travelling with a child for heart surgery is a major undertaking; decide only after an unhurried discussion with your own paediatric cardiologist.

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