Congenital heart disease
General Practitioner, Laindon, UK
University of Southampton, Southampton, UK
E-mail: caes{at}soton.ac.uk
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Congenital heart disease simply means heart disease present at birth. It comprises genetic heart disease and structural anormalities of the heart. This article aims to describe the presentation of congenital heart disease, and outline common structural and genetic heart problems.
As part of the knowledge base, the GP curriculum for Care of children and young people (section 8) requires GPs in training to be able to assess heart murmurs in neonates, and the GP curriculum statement relating to cardiovascular problems (section 15.1) requires GPs in training to develop and understanding of congenital heart disease.
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Congenital cardiac malformations |
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TOPAbstractThe GP curriculum and...Congenital cardiac malformationsSpecific congenital cardiac...Genetic cardiac diseaseReferences |
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Congenital malformations of the heart are common. They affect around six in every thousand babies born in the UK. The heart defect may be detected antenatally, as a result of the neonatal examination, if a murmur is detected incidentally when examining the child for another reason, or when the child becomes symptomatic.
Structural heart abnormalities may be detected in utero by ultrasound scan. If detected during the routine 10–13 week or 18 week anomaly scan, amniocentesis is routinely offered to screen for Down's syndrome and other chromosomal abnormalities. One in 20 children with Down's syndrome has heart disease – especially patent ductus arteriosus (PDA), atrial septal defect (ASD) and/or ventricular septal defect (VSD). The exact nature of heart defects detected on antenatal ultrasound scan is often not clear until birth and this can present parents with difficult decisions if there is any question of termination (Box 1).
| Box 1. A parent's experience of antenatal diagnosis "Every time we went to the hospital we was told well this is what we think is wrong. Which I know must be very, very difficult because at the end of the day their scanning your baby through your tummy and it's very hard......Unfortunately for our daughter she couldn’t have corrective surgery......But they still said to us ‘Well we think this is the problem but you know we may be slightly not quite right and when she's born we may be able to correct her heart depending on how certain things are’. So when we was given the option of termination that was always in the back of our minds. Well how could we consider terminating a baby when the baby could have corrective heart surgery and everything could be fine so we found that really, really hard." Reproduced with permission from DIPeX patient experience database
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Presentation with a heart murmur at the neonatal check
Only 44% of cardiac malformations are detected in the first year of life. Around half of the murmurs heard at the neonatal check reflect underlying cardiac malformation. Significant murmurs may not present immediately as pulmonary pressures take several days to drop. Table 1 lists common cardiac malformations and the features of the murmurs that they produce. If there is associated heart failure (poor feeding, tachypnoea or a large liver) and/or cyanosis, refer immediately to paediatrics, as an emergency if necessary. If a murmur is heard and the baby is otherwise well, review in one week to check the murmur again. If it is still present, refer to paediatrics or paediatric cardiology.
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Presentation with a murmur after the neonatal check
Murmurs are a common finding in childhood, particularly when examining a febrile child. Most of these murmurs are not associated with heart disease, and are termed ‘innocent murmurs’. Features of an innocent murmur are that:
- The child is asymptomatic
- The murmur is soft and always systolic. It may vary with position and does not radiate
- There is a normal second heart sound
- There are no other associated signs of heart disease (i.e. pulses are normal, there is no thrill palpable)
However, in all cases it is important to exclude structural heart anomalies. Unless a child is febrile when a murmur is heard, and the murmur disappears once afebrile, refer all children with murmurs for echo or paediatric evaluation. The differential diagnosis of heart murmurs in children is listed in table 2. Once a murmur has been assessed as being innocent, ensure that the parents understand what that means. It is not uncommon for parents and children to have ongoing anxiety about innocent murmurs.
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Presentation with heart failure
If a heart defect is undiagnosed at the neonatal check, the baby may present later with symptoms or signs of heart failure (Box 2). These include:
- Breathlessness particularly when crying for feeding
- Failure to thrive and/or difficulty feeding
- Sweating
- Fast respiratory and pulse rates
- Heart enlargement
- Liver enlargement, and
- Weight increase due to fluid retention
| Box 2. Parents’ experiences of diagnosis of congenital heart disease Problems feeding "Alex was born due to a normal delivery...She fed well and put on weight for the first two or three weeks of life and then she started to have problems feeding. I was breast feeding at the time and I knew that there was something wrong...Health Visitors and, and midwives didn’t really pick up on it and felt that I was just having trouble breast-feeding ...I tried her bottle-feeding and she continued not to put on weight ...My Health Visitor said that it was because it was hot weather and things like that and not to worry... Towards the fifth week I was worried because she still hadn’t put any more weight on from two weeks old. In fact she’d lost and I was very worried about this. So I took her to see the GP at 5 weeks old and my GP looked at her briefly, made a phone call to the hospital, sent me immediately up to the hospital and said that she could have a heart problem."
Cyanosis
Breathlessness Reproduced with permission from DIPeX patient experience database
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The most likely causes of heart failure in a baby less than a week old include left outflow obstruction, severe aortic stenosis, coarctation of the aorta or hypoplastic left heart. In older babies and children, large VSDs, patent ductus arteriosus and ostium primum ASDs may cause heart failure.
Presentation with cyanosis
Cyanosis in babies is uncommon and always indicates a serious problem (Box 2). If the baby is less than two days old, cyanosis is likely to be due to transposition of the great arteries or severe pulmonary stenosis. Later presentation is mostly due to tetralogy of Fallot.
Management
In all cases, if new congenital heart disease is detected, refer for specialist paediatric and/or cardiology opinion. Specialist treatment of valve lesions depends on the gradient measured across the valve. Most other congenital cardiac lesions (except VSD and ASD) require surgery. Surgery may be staged for complex lesions.
Prevention of endocarditis
Infective endocarditis occurs when there is infection of a heart valve. Although uncommon, consequences may be disastrous and endocarditis is often detected late. An episode of endocarditis may be the presenting feature of congenital heart disease. There is increased risk of developing endocarditis in patients with valve lesions, septal defects (which persists after repair), PDA and particularly in those with prosthetic valves. All these patients require antibiotic prophylaxis for dental and surgical procedures (tables 3, 4 and 5). Good dental hygiene is also important including regular dentist check ups.
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Specific congenital cardiac defects |
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Valve lesions
Heart valves can be narrowed (stenosis) or leak (regurgitation). Figure 1 shows the normal heart with the direction of blood flow. In heart valves are narrowed or leak, blood flow through the heart is disrupted and a murmur results. Other effects depend on which valve is affected and the degree to which the valve lesion affects the function of the heart as a pump.
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Mitral valve prolapse or a ‘floppy mitral valve’ affects 1 in 20 people. It presents with a murmur and usually has no symptoms. Rarely it may cause arrhythmia. Another common congenital heart lesion is a bicuspid aortic valve (Figure 2). This may result in either aortic stenosis or aortic regurgitation.
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Valve disease usually presents with a murmur with or without symptoms of breathlessness, fatigue and/or palpitations. Specialist treatment of valve lesions depends on the gradient measured across the valve. Give antibiotic prophylaxis for dental or surgical procedures for all children with valve lesions with the exception of mitral valve prolapse where antibiotic prophylaxis should be given if there is regurgitation or thickened (myxomatous) mitral valve leaflets.
Coarctation of the aorta
There is localized narrowing of the descending aorta usually distal to the origin of the left subclavian artery (Figure 3). Presents with heart failure, raised blood pressure, an incidental finding of an ejection systolic murmur (heard over the left side of the chest and radiates to the back), lack of femoral pulses or radio-femoral delay. This condition also rarely presents with complications such as subarachnoid haemorrhage or endocarditis. Once diagnosis is confirmed, surgery to remove the narrowed portion of the aorta is usually indicated.
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Atrial septal defect (ASD)
An atrial septal defect is a hole connecting the two atria of the heart. It is a common abnormality affecting two in every thousand live births. Holes high in the septum (ostium secundum) are most common (Figure 4); holes lower in the septum (ostium primum) are associated with atrio-ventricular valve abnormalities. In both cases, blood flows from the left to the right side of the heart through the shunt and the right heart takes the burden.
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Symptoms from ostium secundum defects are rare in infancy and uncommon in childhood. If detected in these groups, the ostium secundum defect presents as a murmur (systolic, loudest in the second left interspace) found incidentally, or with breathlessness or tiredness on exertion, or recurrent chest infections. Presentation is usually in the third or fourth decade of life with heart failure, pulmonary hypertension and/or atrial arrhythmias.
Ostium primum defects present with heart failure in infancy or childhood, often accompanied by severe pulmonary hypertension. In addition to the ASD murmur, there may be a pansystolic murmur signifying mitral or tricuspid valve regurgitation.
In both cases, echocardiogram is diagnostic. Cardiac surgery to close the defect is usually indicated. Mortality from percutaneous repair is low. Give all patients with ostium primum defects prophylactic antibiotics.
Ventricular septal defect (VSD)
Ventricular septal defect is a common congenital heart lesion affecting two in every thousand live births. Patients with a ventricular septal defect have a hole connecting their two heart ventricles (figure 5). Blood flows initially from the left side to the right side of the heart through the hole. The condition usually presents with a murmur (pansystolic) and a thrill may be palpable at the left sternal edge. Other symptoms depend on the size of the defect. Patients with small defects (‘maladie de Roger’) often have no symptoms. Patients with larger defects may present with breathlessness on feeding or crying, failure to thrive, cyanosis, heart failure and/or recurrent chest infections. As the child gets older, symptoms tend to improve as the relative size of the defect is reduced.
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Diagnosis is confirmed on echocardiogram. Surgical closure of the defect is usually indicated. All patients with VSD require prophylactic antibiotics.
Hypoplastic left heart
The left ventricle, often together with the mitral valve, aortic valve and aortic arch are underdeveloped. Babies present within the first few days of life with heart failure. Treatment is surgical.
Transposition of the great arteries
The aorta arises from the right ventricle and the pulmonary artery from the left. Progressive cyanosis develops within a few hours of birth. Treatment is surgical.
Patent ductus arteriosus (PDA)
The ductus arteriosus fails to close after birth. This condition is associated with prematurity and affect girls more frequently than boys. Symptoms depend on the size of the shunt and range from an incidental finding of a heart murmur through failure to thrive to overt heart failure. The PDA may close spontaneously within a week of birth. If it fails to close, treatment is usually surgical.
Tetralogy of Fallot
Consists of a large ventriculospetal defect together with pulmonary stenosis. May present as a murmur in the newborn period. Progressive cyanosis then develops over the next weeks and years. This is associated with reduced exercise tolerance and the child characteristically squats after exercise. Treatment is surgical.
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Genetic cardiac disease |
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Cardiomyopathy
Cardiomyopathy is a primary disease of the heart muscle. Several forms of cardiomyopathy run in families.
In dilated cardiomyopathy, the left ventricle is dilated and the right ventricle may be dilated too. Although there are many causes of dilated cardiomyopathy, around 20% of cases are familial. Patients present with fatigue and reduced exercise tolerance (mild cases), breathlessness and heart failure (more severe cases) and arrhythmia (rarely). There may be non-specific S-T abnormalities on ECG. Chest X-ray shows an enlarged heart with pulmonary venous hypertension. Echocardiogram is diagnostic. Treatment is symptomatic. In severe cases, heart transplantation may eventually be needed.
Hypertrophic cardiomyopathy has an autosomal dominant familial inheritance but half of all cases are due to sporadic mutations. In its most common form (hypertrophic obstructive cardiomyopathy or HOCM), there is asymmetrical septal hypertrophy with or without aortic outflow obstruction. Symptoms include palpitations (hypertrophic cardiomyopathy is associated with arrhythmias), breathlessness on exertion, chest pain (angina-type or atypical), a heart murmur due to outflow obstruction and/or mitral valve dysfunction, and faints or collapses. Echocardiogram is diagnostic. Ongoing specialist care is essential. Patients and their families should also receive genetic counselling. Ensure antibiotic prophylaxis. The major cause of mortality is sudden death which is unrelated to the severity of any symptoms.
| Hypertrophic obstructive cardiomyopathy can cause sudden death during sport. It is difficult to exclude on clinical examination. If there is a family history or systolic murmur, refer to cardiology before recommending new intense activity.
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Screening for familial cardiomyopathy
The RCGP curriculum statement number 15.1 (cardiovascular problems) requires GPs in training to describe strategies for early detection of cardiovascular problems that may already be present but have not yet produced symptoms.
Antenatal testing for familial cardiomyopathy is possible if the familial mutation is known. In many cases it is not. The National Service Framework for Cardiovascular Disease was updated in 2005 to include recommendations for screening to prevent sudden cardiac deaths, particularly in young people. It recommends:
- Children under 10 years at risk of developing cardiomyopathy should be screened with an ECG and echocardiogram every 3–5 years
- Children aged 10–16 years should be screened every 6–12 months if there is a family history of HOCM as this is the age group in which the disease is most likely to become apparent
- Between the ages of 16 and 20 years screening is advised
- After the age of 20 years, if there is late-onset hypertrophic cardiomyopathy in the family, then there should be continued screening at 5 yearly intervals
- Screening intervals are not formally established in the other cardiomyopathies but should be adapted to the pattern of disease within that particular family
Marfan's syndrome
Marfan's syndrome is a connective tissue disease with an autosomal dominant inheritance and incidence of 4–6 per 100,000. Typical features of patients affected by Marfan's syndrome include limbs disproportionately long for the trunk, long ‘spider-like’ fingers, joint laxity, scoliosis (particularly pectus excavatum or carinatum), myopia (due to lens dislocation) and a high-arched narrow palate. Cardiovascular features include mitral valve prolapse and dilatation of the ascending aorta, which may lead to aortic regurgitation and eventually rupture. In most cases elective replacement of the aortic root is undertaken. In children this is done if the size of the aortic root reaches twice normal size and is actively enlarging, or in adults when the diameter of the aortic root reaches 5 cm (earlier in high risk families). Prognosis with surgery is good (88% five-year survival). Patients with Marfan's syndrome should be referred for genetic counselling. There is currently no antenatal screening test available.
| Information for patients and carers British Heart Foundation Tel: 0845 0708 070 www.bhf.org.uk Children's Heart Federation Tel: 0808 808 5000www.childrens-heart-fed.org.uk Cardiac Risk in the Young (Cry) www.c-r-y.org.uk Heartline Association Website: www.heartline.org.uk Association for Children with Heart Disorders www.tachd.org.uk Cardiomyopathy Association Tel: 01923 249 977 www.cardiomyopathy.org National Marfan Foundation www.marfan.org Heart Transplant Families Together www.htft.org.uk Transplant Support Network Tel: 0800 027 4490/1 www.transplantsupportnetwork.org.uk
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References |
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TOPAbstractThe GP curriculum and...Congenital cardiac malformationsSpecific congenital cardiac...Genetic cardiac diseaseReferences |
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