Grown-up congenital heart disease

A thorough  clinical evaluation is of a critical importance in the diagnostic work up of  grown up congenital heart disease. The aim of analysing history is to assess present and past symptoms as well as to look for intercurrent events and any changes in medication. The patient should be questioned on his/her lifestyle to detect progressive changes in daily activity in order to limit  the subjectivity of symptom analysis. Clinical examination plays a major role and includes, during follow-up, careful evaluation with regard to any changes in auscultation findings or blood pressure or development of signs of heart failure. An electrocardiogram and pulse oxymetry are routinely carried out alongside clinical examination. Chest X-ray  is no longer performed routinely at each visit, but rather when indicated. It remains, nevertheless, helpful for long-term follow-up, providing information on changes in heart size and configuration as well as pulmonary vascularization.

Strategies for investigation of anatomy and physiology of congenital heart disease are changing rapidly, with a shift from invasive studies to non-invasive protocols involving not only echocardiography but, more recently, cardiovascular magnetic resonance and computed tomography.
Nuclear techniques may be required in special indications.

Evaluation of arrythmias, primarily in symptomatic patients.  Cardiopulmonary exercise testing has gained particular importance in the assessment and follow-up of grown-up congenital heart disease patients. It plays an important role in the timing of intervention or re-intervention.

Diagnostic work-up:

• Echocardiography

Echocardiography remains the first line investigation and continuous to evolve, with improved functional assessment using four dimensional echocardiography, doppler tissue imaging and its derivatives, contrast echocardiography and perfusion imaging transoesophageal echocardiography.
Echocardiography provides, in most instances, information on the basic cardiac anatomy including orientation and position of the heart, venous return, connections of the atria and ventricle,  and origin of the great arteries. It allows evaluation of the morphology of cardiac chambers, ventricular function, detection and evaluation of shunt lesions, as well as the morphology and functions of the heart valves. Assesment of ventricular volume overload (increase in end-diastolic volume and stroke volume) and pressure overload (hypertrophy, increase in ventricular pressure) is of major importance. Doppler echocardiographic information also includes  haemodynamic data such as gradient across obstructions and right ventricle pressure/pulmonary artery pressure , but also flow calculations.  Although echocardiography can provide comprehensive information, it is highly user dependent.

• Cardiac magnetic resonance imaging

Cardiac magnetic resonance imaging has become increasingly important in grown-up congenital heart disease patients and is an essential facility in the specialist unit. It enables excellent three dimensional anatomical reconstruction, which is not restricted by body size or acoustic windows and has rapidly improving spatial and temporal resolution. It is particularly useful for volumetric measurements, assessments of vessels, and detection of myocardial fibrosis.

• Computed tomography

Computed tomography plays an increasing role in imaging of grown-up congenital heart disease patients,  providing excellent spatial resolution and rapid aquisition time. It is particularly good for imaging epicardial coronory arteries and collateral arteries, and for parenchimal lung disease. Ventricular size and function can be asssessed, with inferior temporal resolution compared with cardiac magnetic resonance imaging. The drawback of most current computed tomography systems is its high dose of ionizing radiation , making serial use unattractive.

• Cardiopulmonary exercise testing

Cardiopulmonary exercise testing , including assessment  of objective exercise capacity (time, maximum oxygen uptake), ventilation effeciency, chronotropic and blood pressure response, as well as exercise-induced arrythmia,  gives a broader  evaluation of fuction and fitness, and has endpoints which correlate well with morbidity and mortality in grown-up congenital heart disease.

• Cardiac catheterization

Cardiac catheterization is now reserved for resolution of specific anatomical and physiological questions, or for intervention. Continuing indications include assessment of pulmonary vascular resistance, left ventricle and right ventricle diastolic function, pressure gradients,  and shunt quantification when non-invasive evaluation leaves uncertainty, coronary angiography, and the evaluation of extracardiac vesseels such as aortic pulmonary collateral arteries.