Cardiac anomalies (VACTERL)

(40–80%)

Major anomalies (57.2%)

• Congenital malformation of the cardiac chambers and connections
• Congenital malformation of cardiac septa
• Congenital malformation of great arteries including patent ductus arteriosus and aortal anomalies

Minor anomalies (6.5%)

• Isomerism of atrial appendages
• Congenital valve malformations
• Congenital malformations of the great veins and other great arteries

Why might these patients present to the GP in adulthood?

Congenital heart defects (CHD) can have a lifetime impact on health, education, work and social outcomes. Gong et al. (163) found that life expectancy, disability-free years and QALYs (quality adjusted life years) were all lower in those with CHD compared to healthy peers. Lifetime earnings were also considerably less, and less likely to be employed and work for fewer years.

1. Poor transition to adult services. Between 50% and 80% of patients are lost to services at the time of transition, and this can impact on cardiac function. A lapse of two or more years is associated with a 3x increase in need for surgical or catheter intervention on reconnecting with the health system. (164)
2. New arrhythmias. This is a common reason for re-engagement with medical services when lost to transition. (164) These may be dysrhythmias, but also atrial and ventricular tachy and bradycardias.
3. Poor lung function. Separate from the effects of OA/TOF on the chest, abnormal lung function is common in adult patients with CHD, due to both CHD itself and the aftermath of cardiac surgery on lung function and growth (diaphragmatic palsy, musculoskeletal effects of thoracotomy) causing restrictive lung disease. CHD can also cause development of pulmonary hypertension in around 10% of adults with CHD. (165)
4. Renal dysfunction secondary to CHD. Nearly half of all adults with CHD have renal dysfunction, and 20% have moderate or severe renal dysfunction.
5. Cardiovascular comorbidities. Young adults with CHD have a higher rate of congestive cardiac failure (CCF) and stroke. (166) Oster et al. found 4.3% of adults between 20 and 38 years old with CHD had CCF compared to 0.2% general population, and 1.4% had had a stroke compared to 0.3% general population.
6. Peripheral vascular disease as an aftermath of vascular manipulations during cardiac surgeries. Neidenbach et al. found a rate of 12.4% in their adult CHD population. (165)
7. Pregnancy induces cardiovascular haemodynamic changes in all mothers. However, if there is pre-existent CHD, this and the hormonal changes can increase risks of arrhythmias and the pro-thrombotic state of pregnancy increases thromboembolic complications. This means pregnancy can worsen maternal cardiac function. Maternal CHD is associated with a higher risk of pregnancy complications, including emergency caesarean delivery, post-partum haemorrhage and cardiac complications, as well as preterm birth, small for gestational age birthweight, and maternal and infant mortality. It is recommended that women with CHD receive preconception and prenatal counselling to assess their structural lesion at birth, type of repair, residual lesions, current functional status, known risk factors, so that the best antenatal, intrapartum and postpartum care can be provided by a multidisciplinary team with expertise in CHD pregnancies. (167)
8. Mental health problems. Anxiety and depression are higher in adults with CHD, though it varies depending on the nature of their CHD. Both anxiety and depression are most common in those with cyanotic heart disease, transposition of the great arteries and Eisenmenger’s syndrome. (168)
9. Non-cardiac surgery. Non-cardiac surgery carries a greater risk in CHD than their healthy peers. It is recommended that those with simple CHD can have non-cardiac surgery at a general hospital, moderate CHD should be assessed at a specialist centre prior to non-cardiac surgery at a general hospital, and complex CHD should undergo all non-cardiac surgery at a specialist cardiac centre.