Congenital Heart Disease in Children and Adults

Congenital heart disease means the heart formed differently before birth. Some defects are a small hole between two chambers that may close by itself. Others are complex and need surgery in infancy. A few are found in the womb or in the first weeks of life, and some are not picked up until adulthood.

What are the common types of congenital heart disease?

Most cases fall into a handful of recognised patterns, and knowing which one you or your child has matters far more than the general label. The plan for a small hole that will probably close on its own has nothing in common with the plan for a narrowed valve that needs opening.

What are the symptoms in a baby or child?

In babies, the heart speaks through feeding and breathing. Watch for a blue tint to the lips or tongue, fast or laboured breathing, sweating on the forehead during feeds, tiring before the feed is finished, poor weight gain, and repeated chest infections.

Parents commonly describe:

• Blue lips or tongue
• Fast breathing with the ribs drawing in
• Sweating during feeds, especially on the head
• Feeding for a short while, then stopping to catch breath
• Weight that will not go up
• Repeated chest infections and cough
• An older child who squats to catch their breath during play, or tires far sooner than friends

A murmur on its own, in a thriving baby who feeds well and grows normally, is usually innocent. A murmur alongside any of the signs above needs specialist assessment.

What are the symptoms in adults?

Adults with unrecognised congenital heart disease usually turn up with breathlessness on exertion, palpitations, unusual fatigue, or a murmur found during a check-up for something else entirely. Symptoms often begin gently, and people put them down to weight, age or being out of practice.

Adults who were operated on in childhood can develop new problems years later: an irregular rhythm such as atrial fibrillation, a valve that starts to leak, a chamber under strain, or heart failure symptoms. These changes are silent at the start, which is the entire reason lifelong follow-up exists.

What causes congenital heart disease, and what raises the risk?

In most cases no single cause is ever identified. The heart simply formed differently in the first weeks of pregnancy, before most women even know they are pregnant. Nothing the mother did caused it. Some recognised factors do raise the chance, and a few of those are preventable.

• Genetic and chromosomal conditions such as Down syndrome, which is often accompanied by a heart defect.
• A family history of congenital heart disease in a parent or a sibling.
• Diabetes in the mother that is poorly controlled before and during early pregnancy.
• Rubella infection in early pregnancy, which vaccination prevents.
• Certain medicines taken in pregnancy, including some epilepsy and acne treatments. This is why any woman planning a pregnancy should review her medicines with a doctor.
• Smoking and other harmful exposures during pregnancy.
• Folic acid taken before conception protects against neural tube defects and is part of standard pre-pregnancy care.

How does marriage within the family affect the risk?

Cousin marriage is common across Pakistan, and it is worth being accurate here rather than alarming. The great majority of children born to related couples are completely healthy. The reason risk rises slightly is genetic, not moral. Close relatives are more likely to carry the same recessive gene change, so there is a greater chance that a child inherits two copies of it.

The World Health Organization recognises consanguinity among the factors that increase the frequency of inherited congenital disorders. In practice this means something quite specific. Families in which a heart defect, a genetic syndrome or repeated childhood deaths have occurred are the ones who benefit most from counselling before pregnancy, folic acid started before conception, good diabetes control, and a fetal echocardiogram in the next pregnancy. It is information for planning, not a reason for blame.

When should a child or adult go to the Emergency?

Call 1122 or go straight to DHQ Hospital Abbottabad Emergency if a baby or child has blue lips, tongue or nail beds, is breathing fast or grunting with the ribs drawing in, is refusing feeds, is unusually floppy or hard to wake, or has had a fainting episode.

Adults with known or suspected congenital heart disease should seek emergency care for chest pain, fainting, breathlessness at rest, or a very fast irregular heartbeat that will not settle. A child with tetralogy of Fallot who has a sudden blue spell needs emergency care as well. Comfort the child, keep them calm, hold them knees-to-chest if that is what the specialist advised, and get help immediately. Prolonged unexplained fever in anyone with a repaired or artificial valve also needs urgent assessment, since infection can settle on heart tissue.

How is congenital heart disease diagnosed?

The main test is an ultrasound of the heart, which shows the structure directly and is painless, radiation-free and repeatable. During pregnancy the same technique becomes a fetal echocardiogram, and after birth an examination, pulse oximetry and a scan usually settle the diagnosis.

Tests used include:

• Echocardiography, the key test at every age, showing holes, valves, chamber size and pumping strength.
• An ECG, which can reveal chamber strain or a rhythm problem.
• Pulse oximetry, a painless finger or foot probe measuring oxygen levels.
• Holter monitoring when palpitations, dizziness or blackouts occur.
• An ETT (Exercise Tolerance Test) to measure exercise capacity in older children and adults.
• Cardiac catheterisation, and sometimes angiography, before an intervention or when pressures inside the heart need measuring.
• Cardiac MRI or CT in complex cases, arranged at a specialist centre.

Adults living with congenital heart disease, including those repaired as children, are seen by Dr. Muhammad Ali Khan, Consultant Cardiologist, at his clinics in Abbottabad, where echocardiography and rhythm assessment guide long-term follow-up. Babies and young children are assessed by a paediatric cardiologist, and referral is arranged where specialist paediatric care is needed. TODO: confirm the local paediatric cardiology referral pathway

How is congenital heart disease treated?

Treatment runs from watchful waiting through to surgery, and the majority of children treated today grow into adults who live full lives. The plan depends on the specific defect, its size, its effect on the lungs and heart, and the child's growth.

European Society of Cardiology guidelines cover the long-term management of adults with congenital heart disease, and the American Heart Association publishes similar guidance. The options are:

• Monitoring. Many small holes close spontaneously in the first years, and regular scans confirm progress.
• Catheter procedures. Many defects, including some ASDs and a PDA, are closed with a device passed up through a vein, which avoids open surgery.
• Balloon dilatation of a narrowed pulmonary or aortic valve.
• Surgery, in one stage or several, for larger defects and complex malformations.
• Medicines for heart failure symptoms, blood pressure or rhythm control. These support the heart rather than cure the defect.
• Rhythm treatment in adults, including medicines, ablation or a pacemaker where needed.
• Endocarditis prevention through dental hygiene, and preventive antibiotics before certain procedures in selected patients.

How do you live with congenital heart disease?

Most children and adults live ordinary, active lives, with school, work, marriage and travel all in them, and a specialist review running quietly in the background. The single most valuable habit is never letting follow-up lapse, especially through the teenage and early adult years when a lot of patients quietly drop out of care.

Practical priorities:

• Keep every follow-up appointment, even when you feel completely well.
• Keep a file of operation notes, old echo reports and ECGs. Take it to every new doctor.
• Look after teeth and gums, and tell every dentist and surgeon about the heart condition.
• Follow the vaccination schedule, since chest infections are harder on these hearts.
• Ask for written activity advice. Most children should play normally, and a few need limits on very heavy or competitive exertion.
• Plan pregnancy in advance with a cardiologist, since pregnancy adds a large workload to the heart.
• Avoid smoking and naswar entirely, and treat blood pressure, weight and cholesterol as they arise in adulthood.
• Watch for new symptoms, whether that is increasing breathlessness, palpitations, swelling or fainting, and report them promptly instead of waiting for the next scheduled visit.