Werner Budts.

Congenital Cardiology, University Hospitals Leuven, Belgium.

The number of adult patients, who were treated for a congenital aortic stenosis at childhood, is continuously increasing. Today, these patients present at adult (congenital) heart disease clinics with post-interventional sequels from the past. Several patients underwent an aortic valvotomy or a balloon dilatation before their adolescence, which results in a significant aortic regurgitation in the majority of patients. In others, a Ross repair is performed. But also this surgical intervention can not be considered as a finalizing procedure, because of homograft degeneration or neo-aortic root dilatation. Finally, some patients did have any interventions at childhood, but native valve degeneration and the subsequent need for surgery during adolescence or young adulthood are not uncommon. The presence of sequels and the potential risk for re-intervention oblige for continuous medical follow-up, a characteristic of living with a congenital aortic stenosis.

However, medical advice for these patients is not only focussed on optimizing their cardiac performance. Indeed, one of the main issues are questions about heredity and pregnancy. In this way, young patients with congenital valve disease differ substantially from older patients with degenerative valve disease. Observational studies showed that the hereditary risk of a congenital aortic stenosis is estimated between 3 and 5% or between 5 and 8% when the father or the mother, respectively, is affected. In general, this percentages are considered to be low, because the prevalence of a bicuspid aortic valve is already 3 to 5%. However, the main problem is the pregnancy, which is characterized by a substantial increase in cardiac output and a significant decrease in systemic arterial resistance. Because of these haemodynamic changes, pregnancy is absolutely contraindicated in symptomatic patients. Asymptomatic aortic valve regurgitation or mild aortic stenosis are usually not related with haemodynamic problems during pregnancy. An aortic valve gradient of more than 50 mmHg in asymptomatic patients is considered as a relative contraindication. Mild homograft degeneration after Ross repair is no contraindication. Typical complications which may occur during pregnancy are heart failure, arrhythmias, and aortic dissection, especially in patients with a bicuspid aortic valve. Finally, physicians have to be aware of the risk for endocarditis during delivery. Concerning the foetus, some papers report an increased risk for pre-maturity, intra-uterine growth retardation, and low birth weight.

Special interest is needed for child-baring women with a mechanical valve and treated with warfarin. One decade ago, pregnancy in these patients was absolutely contraindicated. Warfarin use results in a higher risk for foetal anomalies and bleeding. On the other hand, warfarin treatment can not be interrupted, because of an increased risk for mechanical valve thrombosis. Several therapeutic regimens with antithrombotics are tried out, but today, warfarin is preferred to be discontinued as soon as conception is confirmed, and to replaced by low molecular heparins (with measuring of the anti-Xa activity). The incidence of valve thrombosis with low molecular heparins seems to be lower than when unfractioned heparin is used. The risk for foetal anomalies and bleeding is extremely low, because heparin does not pass through the placenta. In contrast, breast feeding seems to be safe in patients under warfarin therapy. Nevertheless, a congenital aortic stenosis may have an important impact on the decision taking for pregnancy or not.

Unfortunately, patients with a congenital aortic stenosis have not only to deal with medical problems, but also with non-medical issues. Patients are subjects living in a community with rules and obligations. An important question that patients want have to be answered is what kind of job do I have to choose? If they decide for a job, they have always to consider and take into account their functional capacity, physical ability, the risk for re-operation in the future, … Therefore, vocational counselling is extremely important and needs to be integrated in the daily patient management. In addition, patients are also confronted with insurances. Some companies exclude patients with aortic valve disease in case of life or hospitalisation insurances. Other patients are not excluded, but have to pay an annual fees up to 300%. All this is characterized by a lack of solidarity in the society and, therefore, may influence patients’ socio-professional performance. The same problem may raise when obtaining a driving licence. It is provided by the Belgian law that patients with congenital heart defects are allowed to drive. However, the latter needs an attestation by a cardiologist, with in some cases renewal every three years.

Because of their potential medical problems and because of the continuous focus of the society on these patients (as discussed before), lifestyle optimizing remains extremely important. To obtain physical fitness, most of these patients need a sport-medical advise. Asymptomatic patients are allowed to perform recreational sport activities. This means in daily practice, moderate physical exercise limited to 3 to 4 hours per week. None of competitive high intensity sports are contra-indicated in patients with only a minimal aortic stenosis. Competitive low intensity sports are allowed in patients with minimal to moderate aortic stenosis. Patients with an aortic stenosis of more than 40 mmHg are excluded from any kind of competitive sports. The reason for the latter is that the risk for sudden death in patients with (even mild) aortic stenosis is higher than in the general population.

Drug and nicotine abuse need to be avoided, even more  than in the general population. Drugs may have a pro-arrhythmogenic effect, especially in patients who suffer from a higher vulnerability for arrhythmias. Because most of the patients will need to be re-operated later into adulthood (after a valvotomy or Ross repair), nicotine abuse has to be avoided. Indeed, smoking is a documented peri-operative risk factor for increased mortality and morbidity.

An extremely important issue is prophylaxis against subacute bacterial endocarditis. Patients with congenital aortic stenosis (native or postoperative) are lifelong at high risk for developing endocarditis. Because poor dental care is one identifiable cause of endocarditis, an annual visit at the dentist is preferable. In addition, information about the risk for endocarditis needs to be given in case of piercing or tattooing. People have to realise that endocarditis remains a potential lethal disease.

Several health care workers may have now the impression that living with a congenital aortic stenosis is difficult and, therefore, may lead to impaired quality of life. However, this seems not to be. A general quality of life research at the GUCH unit of the University Hospitals of Leuven, could show in a subanalysis that quality of life isn’t impaired when compared to a control group. Moreover, patients with a congenital aortic stenosis perceive the same health status as their controls. It is suggested that accurate ongoing coping mechanisms provide a substantial level of quality of life.

In conclusion. Living with a congenital aortic stenosis means a lifelong follow-up. Advances in medical treatment and surgical interventions are actually optimizing outcome. However, problems can also be related to non-medical issues. One of the tasks of health care workers is to guide the patients through these problems. Although living with a congenital heart defect seems to be complex, quality of life seems to reach normal levels, which is the primary aim in patient management and life. 

References:

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2. Bonow RO, Carabello B, de Leon AC, Edmunds LH Jr, Fedderly BJ, Freed MD, Gaasch WH, McKay CR, Nishimura RA, O'Gara PT, O'Rourke RA, Rahimtoola SH, Ritchie JL, Cheitlin MD, Eagle KA, Gardner TJ, Garson A Jr, Gibbons RJ, Russell RO, Ryan TJ, Smith SC Jr. ACC/AHA Guidelines for the Management of Patients With Valvular Heart Disease. Executive Summary. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee on Management of Patients With Valvular Heart Disease). J Heart Valve Dis. 1998 Nov;7(6):672-707

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