IV. Rare congenital cardiovascular diseases

RCD Class IV, Page 4


Lidia Tomkiewicz-Pająk MD, PhD

Recent progress in cardiac surgery and pediatric cardiology has resulted in large numbers of adult patients who have surgically corrected complex congenital heart disease (CHD). A large group of CHD are characterized by a low prevalence in the population and most of them are qualify to the rare congenital heart diseases (RCHD). Pathophysiology, epidemiology diagnosis and clinics of CHD have been previously described (1,2,3). The problems of adult patients with CHD diseases have been recently extensively reviewed by experts in the form of journal articles and textbooks. The most recently published positions are ESC Guidelines for the management of grown-up congenital heart disease (new version 2010) Helmut Baumgartner, Philipp Bonhoeffer, Natasja M.S.De Groot, Fokko de Haan, John Erik Deanfield, Nazzareno Galie, Michael A. Gatzoulis,Christa Gohlke-Baerwolf, Harald Kaemmerer, Philip Kilner, Folkert Meijboom, Barbara J.M. Mulder, Erwin Oechslin, Jose M. Oliver, Alain Serraf, Andras Szatmari, Erik Thaulow, Pascal R. Vouhe , Edmond Walma (4), Diagnosis and Management of Adult Congenital Heart Disease Gatzoulis MG, Webb GD, M.D., Daubeney PEF (5). Cases in Adult Congenital Heart Disease Gary D. Webb, M.D., Craig Broberg (6). At this time most of the RCHD although frequently described in the literature do not have direct and easy answers. There is no classification of them and therefore most of them appear as single or few patients. We did not aim to re-review the data already covered by the superb publications. Our intention was to establish clinical classification of RCHD and present our management of RCHD.
The embryonic development of the heart and great vessels is a very complex sequence of events. Any disruption in any part of this complex sequence can potentially result in a CHD. Some CHDs may occur in isolation, whilst others may occur as part of various genetic syndromes, such as Down’s syndrome, Marfan syndrome, Turner syndrome and DiGeorge syndrome and with other concomitant diseases. Classification of CHD has always been challenging.
There are two global systems of classification: International Classification of Diseases (ICD-10) created by World Health Organization (7) and International Pediatric and Congenital Cardiac Code (IPCCC) created by International Congenital Heart Surgery Nomenclature and Database Project of The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons with the European Paediatric Cardiac Code of the Association for European Paediatric Cardiology (8). Proposed our comprehensive classification based on the IPCCC will be useful in clinical practice. Apart from anatomic and clinic divisions we created new category – Grown-up Congenital Cardiovascular Diseases (GUCCD). The population of adults CHD is heterogeneous and need different levels of expertise; 20–25% are complex, rare, and require life long expert supervision and/or intervention; a further 35–40% require access to expert consultation. The rest, about 40%, have simple or cured diseases and need little or no specialist expertise (9). Patients after operation on CHD had different type of hemodynamic and its consequences, for example Tetralogy of Fallot is classified to the CDH with decreased pulmonary flow. After operation the pulmonary flow is usually normalized but pulmonary valve regurgitation, arrhythmias are main problems. In some cases residual ventricular sepal defect is detected and such patients may be classified to CHD with increased pulmonary flow. Our group of GUCCD consist of three subgroup: CHD after surgery, after palliation and uncorrectable. The subgroup CHD after surgery is divided into: patients without late complication and without residual defects and whose with postprocedural complication and residual defects who require expert supervision and/or intervention. Our classification is easy to use in clinical practice and organization of care of patients with RCHD.


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.


The list of RCHD diseases based on Orphaned show table 1.


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
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).
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.
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).

Treatment and care organization
The ESC guidelines recommend multispecialist care including pediatric specialists (pediatric cardiologists, pediatric cardiac surgeons) and specialists taking care of adults (cardiologists, cardiac surgeons, anesthesiologists, internists, surgeons) (4). Each patient with RCHD should be discussed and usually individual decision is making. Psychological support and social assistance play an important role in the management of such patients (22, 23).
In many patients congenital heart disease, after corrective surgery in the childhood, does not affect significantly their adult life. However, some of them require multispecialist care. Many of them face the prospect of further operation, arrhythmias, an increase risk of heart failure and premature death. These adult patients with moderate and extremely complex CHD despite reaching their adulthood are unable to function independently in the society (24).
CHD affects everyday life in many different ways. Some patients are inclined to believe that they are “different” from the rest. They are raised very frequently by overprotective parents. Such symptoms as cyanosis, changes in their fingernails or scars make them perceive their own body as being far from normal and physically less attractive. Their relationships with friends are frequently dysfunctional, they frequently miss lessons, sometimes pursue individual educational plans, do not participate in elective courses, experience reduced exercise tolerance. The feeling of being different usually is stronger during puberty. This may lead to developmental, emotional and social problems in some adolescents and adults with congenital heart disease. It is most frequently memory disorders, attention problems, difficulty in planning, impaired intellectual and educational development. These problems are partially related to the impact of the society thus enhancing psychological difficulties and decreasing self-confidence.
Previous studies show that adolescents and adults with CHD have higher levels of psychological distress and behavioral problems. Possible factors which related to higher psychological distress are: cardiac status, health related quality of life and self-esteem of diseases severity. Earlier studies found lower self–esteem and lower self-concept in patients with congenital heart diseases. Studies also show that psychological factors such as personality, behavior, emotions, cognitive processes etc. may affect body responsiveness and modify the course of various diseases including cardiovascular disease (25, 26). Furthermore, physical capacity of patients late after corrective surgery is lower than that in the general population being far from meeting the criteria of full recovery. Such patients are afraid of performing physical activity, which hinders participation in social life (27).
These patients frequently have their disability certificates and are financially dependent on their parents and social welfare. Furthermore when entering adulthood without adequate preparation they have trouble coping with stressful situations such as deciding to get married, finding a job, etc (28).


Organization of care for RCHD patients in Krakow CRCD

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.
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IV. Rare congenital cardiovascular diseases

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