Introduction
Lidia Tomkiewicz-Pająk MD, PhD
Congenital heart disease (CHD) is the most common developmental anomaly and represents about 1% of all live-born children (1). Rare diseases are defined as “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people. Most of the congenital heart defects are qualify to the RCHD.
RCHD | ICD-10 |
Abnormal number of coronary ostia | Q24.5 |
Pulmonary valve agenesis – Fallot’s tetralogy – absence of ductus arteriosus | Q21.,3, Q22.3, Q25.8 |
Pulmonary valve agenesis – ventricular septal defect – persistent ductus arteriosus | Q21.0, Q22.2, Q25.0 |
Absence of the pulmonary artery | Q25.7 |
Agenesis of the superior vena cava | Q26.8 |
Accessory mitral valve tissue | Q23.8 |
Accessory tricuspid valve tissue | Q22.8 |
Aorta coarctation | Q25.1 |
Aortic valve atresia | Q23.0 |
Atrial septal defect, coronary sinus typ/ Unroofed coronary sinus syndrome | Q21.1 |
Atrial septal defect, ostium primum type | Q21.2 |
Atrial septal defect, sinus venosus type | Q21.1 |
Atypical arterial duct | Q25.8 |
Atypical coarctation of aorta | Q25.1 |
Azygos continuation of the inferior vena cava | Q26.8 |
Cardiac anomalies – heterotaxy | Q28.8 |
Cardiac diverticulum | Q24.8 |
Complete atrioventricular canal | Q21.2 |
Congenital abnormal systemic venous return | Q26 |
Congenital aortic valve insufficiency | Q23.1 |
Congenitally corrected transposition of the great arteries | Q20.5 |
Congenitally uncorrected transposition of the great arteries | Q20.3 |
Triatrial heart | Q24.2 |
Double outlet right ventricle | Q20.1 |
Double inlet left ventricleUniventricular heart | Q20.4 |
Double-orifice mitral valve | Q23.8 |
Double outlet right ventricle | Q20.1 |
Ebstein anomaly of the tricuspid valve | Q22.5 |
Heart defect – round face – congenital developmental delay | Q87.8 |
Heart defects – limb shortening | Q87.2 |
Mesocardia | Q24.8 |
Patent arterial duct | Q25.0 |
Pulmonary arteriovenous fistula | Q25.7 |
Pulmonary artery coming from patent ductus arteriosus | Q25.7 |
Pulmonary artery coming from the aorta | Q25.7 |
Pulmonary artery hypoplasia | Q25.7 |
Pulmonary atresia – intact ventricular septum | Q26.2 |
Pulmonary atresia with ventricular septal defect | Q21.0, Q25.5 |
Pulmonary vein atresia | Q26.8 |
Scimitar syndrome | Q26.8 |
Tetralogy of Fallot | Q21.3 |
CHD – congenitally heart diseases
CPET – cardiopulmonary exercise test
CT – computed tomography
GUCCD – grown up congenital cardiovascular diseases
HRQoL – health related quality of life
MR – magnetic resonance
RCHD – rare congenitally heart diseases
VE/VCO2peak – peak ventilator equivalent for carbon dioxide
Epidemiology
The number of grown-up congenital heart diseases (GUCCD) patients increased. It is estimated that about 85% of newborns with heart defects will reach adulthood. The 32nd Bethesda Conference October 2000 guidelines indicate the frequency of CHD in adults is about 2800 per million subjects, and at least in half of them the disease is moderate or complex (4,9). In 1996 in Canada the number of adult patients with congenital heart disease was 94 000, increasing to 124 000 in 2006. There are approximately one million patients with CHD in the USA and each year the number of them increased as children become adults (10,11). Among adults with CHD the number of patients not undergoing any intervention (cardiological or cardiac surgery) is decreasing in favor of the growing population of subjects submitted for interventional cardiology procedures or one- or multi-stage cardiac surgery. Available evidence shows that in Poland annually there are about 3000 patients more after corrective cardiac surgery and about 500 patients more after cardiac intervention (12).
Classification
The population of adults with CHD is heterogeneous with respect to the type and complexity of the defect as well as the clinical manifestations. There are several ways to classify CHD (13,14). A pathophysiological classification, namely, a classification based upon the clinical consequences of structural defects impairing the physiology of blood circulation, seems more reasonable and is frequently used (15):
I. CHD with increased pulmonary blood flow – shunt at:
venous pole (partial anomalous pulmonary venous drainage),
atrial septum (sinus venous defects) ,
atrioventricular junction (complet atrioventricular canal),
ventricular septum (subarterial ventricular septum defect),
aortopulmonary septation (aortopulmonary vindow).
II. CHD with decreased pulmonary flow, for instance: Tetralogy of Fallot, tricuspis atresia, Ebstein anomaly, single ventricle with pulmonary stenosis or atresia
III. CHD with obstruction to blood progression and no septal defects (no shunt), for instance coarctation of the aorta,
IV. CHD so severe as to be incompatible with postnatal blood circulation :
Ductus-dependent CHD (pulmonary atresia, aortic and mitral atresia, and interrupted or atretic aortic arch);
Parallel systemic and pulmonary circulations (transposition of the great arteries),
Anomalous connection/obstruction of the pulmonary veins
V. CHD silent until adult age for instance congenital anomalous of coronary artery, Congenitally corrected transposition of the great arteries.
Houyel and al. (16 ) proposed his own classification based on IPCCC regrouping CHD into ten categories.
Diagnosis
In diagnostic work-up clinical examination plays major role. Analysis of past history including heart defect type, methods of treatment, past symptoms, medications, concomitant diseases is very important. Elektrocardiogram and pulse oxymetry should be carried out alongside clinical examination at each visits (4).
Echocardiography remains the first-line investigation in diagnosis of GUCCD patients . Usefulness of this diagnostic method improved using three dimensional echocardiography, Doppler tissue imaging, contrast echocardiography, and perfusion imaging (4, 16). Echocardiography provides, information on the cardiac anatomy, morphology of cardiac chambers and valves, ventricular function, detection and evaluation of shunt lesions as well as some hemodynamic data. Although echocardiography can provide usefulness information there are several limitation of this examination tool. First, its depended of examiner experience in CHD and quality of the echocardiogram. Second, in many cases particularly in univentricular hearts and systemic right ventricle the assessment of ventricular volumes and function may be complicated by chamber geometry. Doppler gradients may sometimes be misleading, particularly in right ventricular outflow tract obstruction and coartation of the aorta (4).
Evaluation of arrhythmias, primarily in symptomatic patients, may require Holter monitoring, event recorders, and eventually electrophysiology testing.
Cardiac magnetic resonance (CMR) and Computed Tomography (CT) has growing significance in evaluation of GUCH patients. According to ESC Guidelines there are several indication for CMR and CT in clinical practice (4, 17):
1. An alternative to echocardiography, when both techniques can provide similar information but echocardiography cannot be obtained with sufficient quality.
2. A second method when echocardiography measurements are borderline or ambiguous
3. Indications where CMR is considered superior to echocardiography and should be regularly used when the information is essential for patient management. These indications include:
• A quantification of RV volumes and right ventricular ejection fraction
• A evaluation of the right ventricle outlet tract occlusion and RV–pulmonary artery Conduits
• A quantification of pulmonary regurgitation
• A evaluation of pulmonary arteries (stenoses, aneurysms) and the aorta (aneurysm, dissection, coarctation)
• A evaluation of systemic and pulmonary veins (anomalous connection, obstruction, etc.)
• A collaterals and arteriovenous malformations (CT is superior)
• A coronary anomalies and coronary artery disease (CT is superior)
• A evaluation of intra- and extracardiac masses (ct is superior)
• A quantification of myocardial mass (LV and RV)
• A detection and quantification of myocardial fibrosis/scar (gadolinium late enhancement)
• A tissue characterization (fibrosis, fat, iron, etc.).
Both CT and MR require expensive equipment an experienced staffs in complex CHD. The patients with implantable pacemaker, defibrylator, some prosthetic valves, the other metallic implants and claustrophobic problems shouldn’t have MR imaging (17). In this group of CHD patients CT scan may be an alternative diagnostic tool.
Cardiac catheterization is indicated in order to estimate pulmonary vascular resistance, ventricles diastolic function, pressure gradients, shunt quantification, and the evaluation of extracardiac vessels such as aortic pulmonary collateral arteries. Before surgery or invasive intervention, coronary angiography should be performed in men 40 years of age, postmenopausal women, and patients with signs of coronary artery diseases or risk factors for arteriosclerosis (4).
Cardiopulmonary exercise test (CPET) is objective diagnostic methods of exercise tolerance quantification. CPET parameters such as peak oxygen uptake, peak ventilator equivalent for carbon dioxide (VE/VCO2), heart rate reserve, blood pressure response are a powerful prognostic markers in patients with CHD (19, 20, 21). Serial CPET should therefore be a part of long-term follow-up and should be considered in timing for intervention (4).
One of the main goal of CRCD is to allow the patients with RCHD access to the specialistic care. We propose to the all doctors from our region the contact data to the Centre for Rare Cardiovascular Diseases as well as a registration form are available on the website www.crcd.eu. Additionally internet based registry is available for partner hospitals. Using this virtual tool patient data can be send to CRCD. Based on the individual case the patient can further be admitted to CRCD, for diagnosis, consulted by CRCD and/or other experts based on the submitted data or just recorded in the data base when no additional tests or treatment decisions are required.
Patients with RCHD should be carried out in multidisciplinary, specialist Centers for Rare Cardiovascular Diseases. Apart from specialist medical care psychological and social support should be organized.
References
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IV. Rare congenital cardiovascular diseases
- (IV-5B.1) Patient after Fontan operation Mroczek E. MD, PhD, Podolec J. MD, Kusa J. MD, PhD
- (IV-5A.2) Patient after correction of Tetralogy of Fallot with pulmonary valve regurgitation and left pulmonary branch stenosis Tomkiewicz-Pająk L. MD, PhD, Podolec J. MD, Kopeć G. MD, PhD, Drabik L. MD, Assoc. Prof. Olszowska M. MD, PhD, Miszalski-Jamka T. MD, PhD, Assoc. Prof. Kostkiewicz M. MD, PhD, Tyrka A. MD
- (IV-1D.1b) Ebstein’s anomaly with bidirectional shunt through ASD Klima L., Dziedzic H., Rajzer M., Olszanecka A., Czarnecka D.
- (IV-2A.1) 18-year-old patient with tetralogy of Fallot and coronary artery abnormality Smaś-Suska M.MD, Tomkiewicz-Pająk L. MD,PhD, Tyrka A. MD, Olszowska M. MD, PhD, Miszalski-Jamka T. MD, PhD, Podolec J. MD
- (IV-2B.1) A 69 year old woman with atrial septal defect, coronary heart disease and pulmonary arterial hypertension Rozenbergs A.
- (IV-3A) Adult- patient after Fontan procedure with heterotaxy syndrome, vena cava inferior – pulmonary artery tunnel narrowing Tomkiewicz-Pająk L., Miszalski-Jamka T., Krupiński M., Banyś P., Olszowska M., Podolec M., Drabik L., Podolec P.
Experts: Janusz Skalski J., Jacek Kołcz J., Trojnarska O., Kopeć G., Miszalski- Jamka T. - (IV-5A.O) Adult patient after correction of tetralogy of Fallot with a single branch of the pulmonary artery Tomkiewicz-Pająk L., Drabik L., Krupiński M., Podolec J., Banyś P., Rubiś P., Podolec P.
Experts: Skalski J., Pająk J., Trojnarska O., Gąsior Z., Miszalski – Jamka T. - (IV-6.O) 59-year-old female with patent foramen ovale (PFO) and persistent atrial fibrillation as a potential cause of recurrent cerebral ischemic events Komar M., Podolec J., Przewłocki T., Sobień B., Tomkiewicz-Pająk L., Motyl R., Kopeć G.
Experts: Przewłocki T., Małecka B., Kopeć G., Podolec P. - (IV-1C.3b) 21-year-old male with Truncus Arteriosus Type I Komar M. , Wilkołek P. , Kopeć G. , Sobień B. , Stępniewski J. , Tyrka A., Widlińska B., Podolec P.
Experts: Skalski J., Pająk J., Olszowska M., Tomkiewicz- Pająk L. - (IV-2B.3) 66-year-old female with perimembranous ventricular septal defect (VSD) Luszczak J., Tomkiewicz- Pajak L., Olszowska M., Sutor U., Podolec P., Prokop-Staszecka A.
Experts: Fijałkowska A., Trojnarska O., Skalski J., Gąsior Z., Rubiś P., Kopeć G., Podolec P.