Paediatric cardiology: The last 50 years

In the last half‐century, the outlook for children with heart disease has changed dramatically. Morphologists have transformed our understanding of heart defects. Improved imaging methods, such as echocardiography, computed tomography and magnetic resonance imaging, have made diagnostic cardiac catheterisation almost redundant. However, interventional catheterisation has flourished as transcatheter procedures have replaced surgery for many lesions. The ability to pharmacologically manipulate the duct has revolutionised the management of the sick neonate with major heart disease. Better surgical techniques, such as deep hypothermia and circulatory arrest, allow repair of lesions in early infancy before irreversible complications develop. Advances in anaesthesia and intensive care have been integral. New sub‐disciplines, such as fetal cardiology and electrophysiology, have emerged. The sum of these numerous developments is enormous. Lesions that were previously considered lethal are now routinely treated. Consequently, the great majority of children with major heart disease now reach adulthood in good health.     

CONGENITAL HEART DISEASE IN CHILDREN UNDER TWO YEARS OF AGE

During the years 1956–1959 inclusive 201 children under 2 years of age were referred to hospital for investigation for congenital heart disease. In 31 cases, clinical and radiographic examination revealed normal conditions; in 13 cases, continued clinical observation was indicated. Congenital heart disease was revealed in 157. Of these, 59 were not subjected to cardiac cathe-terisation, either because they were in a very poor condition and died before the examination could be accomplished, or because their condition was so good that catheterisation, with advantage, could be postponed until the age of 3–4 years. Catheterisation was performed in 98, including 44 who were also subjected to angiocardiography. Of these 98 cases, 80 were fully clarified; the principal anomaly was disclosed in nine; the diagnosis was uncertain in seven (including three in whom catheterisation was unsuccessful); erroneous diagnoses were made in two. Death occurred in one case.     

The incidence of congenital angiocardiopathies

Among 229,846 children born alive between 1971 and 1980 in the districts Erfurt and Suhl--this figure coincide with the total number of live births a year in the GDR--1638 patients with structural congenital heart disease were identified. The study is based on an analysis of cardiac patients of this districts and autopsy protocols of all deceased children of the 10-year period. Additional attempt has been made to assess the proportion of cases in adults undergoing cardiac catheterisation with congenital heart disease, undetected in childhood. In our study we found malformations of the heart in 7.13 of 1,000 live births. There is agreement with the results of foreign studies. It is evident, however, that the result requires correction to 8-10/1,000. Our study of the incidence of congenital heart disease in children born between 1971 and 1980 concludes that over the 10-year period the overall incidence has remained constant.     

Epidemiological and clinical aspects of congenital heart disease in children in Tuzla Canton,Bosnia-Herzegovina

Congenital heart disease (CHD) is among the most frequent of all congenital anomalies. The purpose of this study was to present the results of an initial registration of children with CHD from January 1994 to December 1999 in Tuzla Canton, Bosnia-Herzegovina. The population studied consisted of all 39,699 live-born children in this area. Diagnosis of CHD was made by clinical findings, electrocardiography, chest X-ray, echocardiography, catheterisation or autopsy. In the 6-year period, 243 children were found to have CHD, i.e. a prevalence of 6.12 per 1000 live-born. Critical CHD was present in 58 of them, or 1.46 children per 1000 live-born. The average age at diagnosis was 1.47 years. There were 132 boys (54.3%) and 111 girls. The most frequent anomaly was ventricular septum defect with a prevalence of 2.49 per 1000 live-born, representing 40.7 % of the total anomalies. Of the total group, 46 (18.9%) had extracardiac anomalies related to syndromes. Cardiac surgery was indicated in 98 patients (40.3%) but could only be carried out in 42 (17.3%). A total of 63 (25.9%) patients died, 54 of whom within the 1st month of life. CONCLUSION: congenital heart disease is a very significant health problem in Tuzla Canton. It requires urgent measures in terms of organisation of early diagnosis and proper management.     

Cardiomegaly—What does it mean?: A comparison of echocardiographic to radiological cardiac dimensions in children

Summary Several cardiac dimensions were estimated by echocardiography and plain chest films in 36 healthy children and 85 children with heart disease. Left and right ventricular volumes and left ventricular mass were estimated by echocardiography, and compared with the cardiothoracic ratio, cardiac frontal area, and total cardiac volume, estimated from x-rays films. In healthy children there was poor correlation between the radiological and echocardiographic estimates. In children with heart disease, there was a close correlation of radiographic total cardiac volume with echocardiographic left ventricular volume and mass, and combined ventricular volumes. Cardiothoracic ratio and cardiac frontal area did not correlate with echocardiographic data. For a more reliable evaluation of the heart size, in children as in adults, the total cardiac volume has to be calculated from both the frontal and lateral films, as estimates obtained from only a frontal film are unreliable.     

Spectrum of congenital heart defects in Croatia

The aim of our study was to investigate the incidence of congenital defects in children born in Croatia during a period of 5 years, its association with extracardiac malformations, its treatment, and outcome. Medical information about the patients was obtained from 14 paediatric cardiology centres that cover the whole country. Diagnosis was made by clinical findings, electrocardiography, chest X-ray, echocardiography, catheterisation, or autopsy. Between October 1, 2002 and October 1, 2007, there were 205,051 live births in Croatia, 1,480 of which were patients diagnosed with congenital heart disease, accounting for 0.72% of the live-born children. The distribution was made up of 34.6% children with ventricular septal defect, 15.9% with atrial septal defect, 9.8% with patency of arterial duct, 4.9% with pulmonary valvar stenosis, 3.3% with tetralogy of Fallot, 3.3% with transposed great arteries, 3.3% with aortic stenosis, 3.2% with aortic coarctation, 4.3% with atrioventricular septal defect and common atrioventricular orifice, 2.3% with hypoplastic left heart syndrome, and 8.3% other with severe defects. The average age in the time of diagnoses is 70.41 days (SD, 188.13), with low average time of diagnoses of severe heart defects, 9.6 days (SD, 32.52). Among patients, 14.5% had chromosomal defects, syndromes, and/or other congenital major anomalies. During the study, 57 patients died because of cardiac anomalies or other related problems, 24 who died were operated. The rates of specific cardiac defects and association with extracardiac malformations are generally comparable with those reported in similar studies. In spite of all problems, mortality rate of 3.85% is low but could be improved.     

Clinico-morphological comparison in children with infectious endocarditis

As many as 21 children suffering from infectious endocarditis (IE) were examined for the clinical and morphological picture of the disease. The patients' age ranged from 2 to 15 years. In 15 children, IE developed in association with different congenital diseases; in one patient, in the presence of rheumatic heart disease, and in 5 patients, in unaffected heart valves. The sectional material was examined in 19 cases whereas the operational material in 2 cases. Analysis of the data obtained has shown that early diagnosis of IE (primary and secondary) may not infrequently be fairly difficult, which is likely to result in the late administration of antibacterial therapy. In addition to the involvement of the valvular apparatus of the heart, the majority of the patients demonstrated the signs of focal myocarditis and postmyocarditic cardiosclerosis, which is one of the causes of the development of refractory heart insufficiency. IE children mostly die from heart insufficiency and thromboembolism.     

Pulmonary arterio-venous fistulae in hepatic cirrhosis

Cyanosis, clubbing, and arterial oxygen desaturation may occur in patients with liver disease, and are attributed to the presence of pulmonary or peripheral arterio-venous shunting. Cardiac catheterisation and angiocardiography in a patient with a normal heart did not demonstrate the presence of abnormal arterio-venous anastomoses. Pulmonary shunting was proved when intravenous technetium-labelled macroaggregated albumin, normally held up in capillary networks, was passed quickly through the lungs and immediately detected in high systemic blood flow organs. The opening of peripheral and pulmonary anastomoses in patients with liver disease may be owing to the presence of a vasodilatory substance such as ferritin, which was found to be abnormally increased in the patient's blood.     

Disability in Children with Myelomeningocele A Nordic Study

ABSTRACT. This study was carried out to evaluate the medical impairments and disability among 527 children with myelomeningocele living in four Nordic countries. The information was extracted from questionnaires and data based on case records. The level of intellectual functioning was fairly high with 76% within normal range (IQ>90). Shunt operations were performed in 68% of the children and 1/3 had had four or more shunt revisions. Twenty-three per cent walked without support. Bladder incontinence was found in 60% of the children whereas 4% were entirely continent. Intermittent catheterisation was used in 36% with higher frequency among girls (48%) than boys (24%). We found a higher incidence of bacteriuria among those who used catheterisation than among those who used manual compression. Bowel control was experienced by 112 (21%) of the children. The overall disability is classified according to Lorber's 5-graded handicap scale and Lagergren's 3-graded scale. According to Lagergren's scale, 70% suffered from severe overall disability.     

Diagnostic value of chest radiography and electrocardiography in the evaluation of asymptomatic children with a cardiac murmur

We investigated the diagnostic value of the chest radiograph and ECG in the evaluation of whether asymptomatic children with a cardiac murmur had a heart disease as defined by echocardiography. One hundred children aged 1 month to 15 years (median 30.1 months) were included. After physical examination, a tentative diagnosis was made: 53 children had no heart disease, 24 had a probable heart disease and 23 children were thought to have heart disease on the basis of clinical assessment alone. After information from chest radiography and electrocardiography was obtained, the diagnoses were re-evaluated. This resulted in a change of the tentative diagnosis in three children. However, the diagnosis in relation to the definite diagnosis by colour Doppler echocardiography was not changed to the correct diagnosis in any of these cases. In 24 cases, radiography suggested the presence of heart disease; however, only 10 of these had heart abnormalities on the colour Doppler echocardiogram (CDE). Three children had an abnormal ECG; all of these had abnormalities on the CDE, but they were already diagnosed as having heart disease by physical examination. We conclude that chest radiography and electrocardiography is of no help in the discrimination between heart disease and no heart disease in asymptomatic children referred for a cardiac murmur.     

Pulmonary arterio-venous fistulae in hepatic cirrhosis.

Cyanosis, clubbing, and arterial oxygen desaturation may occur in patients with liver disease, and are attributed to the presence of pulmonary or peripheral arterio-venous shunting. Cardiac catheterisation and angiocardiography in a patient with a normal heart did not demonstrate the presence of abnormal arterio-venous anastomoses. Pulmonary shunting was proved when intravenous technetium-labelled macroaggregated albumin, normally held up in capillary networks, was passed quickly through the lungs and immediately detected in high systemic blood flow organs. The opening of peripheral and pulmonary anastomoses in patients with liver disease may be owing to the presence of a vasodilatory substance such as ferritin, which was found to be abnormally increased in the patient''s blood.     

Intermittent catheterisation for neuropathic urinary incontinence.

Eighty six children with neuropathic urinary incontinence who had been treated by clean intermittent catheterisation for more than five years were reviewed. Eighty five had congenital lesions, and one traumatic paraplegia. During the day, 72 (84%) patients were dry or had minor stress incontinence only, 11 were damp but controlled with pads, and only three were continuously wet. Eleven abandoned clean intermittent catheterisation, five because of poor control, four by choice despite good control, and only two because of deterioration of upper urinary tract disease. Most of them usually had bacteriuria, but only 32 developed occasional symptomatic infections. Urinary calculi occurred in six, epididymitis in three, and urethral problems in four. Upper urinary tract dilatation did not arise in a previously normal renal system in any patient during clean intermittent catheterisation. Clean intermittent catheterisation was successful in controlling wetting with few serious complications, and was well tolerated. It remains the method of choice for the management of neuropathic urinary incontinence in such children.     

Disability in children with myelomeningocele. A Nordic study

This study was carried out to evaluate the medical impairments and disability among 527 children with myelomeningocele living in four Nordic countries. The information was extracted form questionnaires and data based on case records. The level of intellectual functioning was fairly high with 76% within normal range (IQ greater than 90). Shunt operations were performed in 68% of the children and 1/3 had had four or more shunt revisions. Twenty-three per cent walked without support. Bladder incontinence was found in 60% of the children whereas 4% were entirely continent. Intermittent catheterisation was used in 36% with higher frequency among girls (48%) than boys (24%). We found a higher incidence of bacteriuria among those who used catheterisation than among those who used manual compression. Bowel control was experienced by 112 (21%) of the children. The overall disability is classified according to Lorbber's 5-graded handicap scale and Lagergren's 3-graded scale. According to Lagergren's scale, 70% suffered form severe overall disability.     

Management of pulmonary hypertension in Down syndrome

Children with Down syndrome (DS) are at greater risk of pulmonary arterial hypertension (PAH) than the general population, partly due to upper airway obstruction and congenital heart disease. We wished to review our management of PAH and suggest a protocol for the systematic management of these children. Children with DS and PAH were included as referred for assessment from March 2005 to May 2010. Twenty-five patients (13 boys) met inclusion criteria. The median age was 385 days (range, 106 to 5,734); mean tricuspid regurgitation jet was 3.5 (range, 2.7–4.8) m/s. At cardiac catheterisation, mean pulmonary artery mean pressure was 26 mmHg (range, 12 to 46), and mean pulmonary vascular resistance (PVR) was 4.14 U.m² (range, 1.20 to 12.43) at baseline. PVR fell to a mean of 2.68 U.m² (range, 0.38 to10.69) with 20 ppm inhaled nitric oxide and 100% oxygen. Respiratory assessment included polysomnography (18), bronchoscopy (16), showing malacia (eight), adenotonsillar hypertrophy (eight) and floppy aryepiglottic folds (four). One lung biopsy showed plexogenic arteriopathy, and one was diagnosed with tracheo-oesophageal fistula. Conclusion: In order to manage this complex group of patients, a combined cardiological, respiratory and surgical approach was required. A protocol with cardiac catheterisation, blood tests and respiratory assessment is suggested for the management of pulmonary hypertension in these children.     

Quantitation of the Global Right Ventricular Function in Children with Normal Heart and Congenital Heart Disease: A Right Ventricular Myocardial Performance Index

Although the assessment of right ventricular (RV) function is important in the clinical management of children with congenital heart disease, available imaging techniques have been limited because of the complex geometry of the right ventricle. A new Doppler index combining systolic and diastolic time intervals (the Tei index) has been reported to be useful for the assessment of global RV function in adults. However, normal values in children, age-related changes, and the clinical utility of the Tei index with regard to congenital heart disease have not been demonstrated. The purpose of this study was to prospectively assess RV function in children with normal heart and congenital heart disease using the Tei index. The subjects included 150 healthy children and 43 patients with congenital heart disease (35 patients with atrial septal defects and 8 patients who had had a Senning operation). The index was defined as the sum of isovolumetric contraction time and isovolumetric relaxation time divided by ejection time and was measured from conventional RV outflow and inflow Doppler velocity profiles. The Tei index was not affected by age in healthy children (0.24 ± 0.04). There was a significant difference in index rating between patients who had had a Senning operation (0.58 ± 0.09) and healthy children (p < 0.01), but there was no significant difference between children with atrial septal defect (0.25 ± 0.13) and healthy children. The Tei index is a feasible approach to use when assessing global RV function in children with congential heart disease.     

Primary preventive health care in children with heart disease

Summary In order to evaluate the preventive health care practices in children with heart disease, 499 families were surveyed in outpatient settings. Data were collected on 215 children with heart disease and 284 control children without known chronic illness. There was no significant difference between the groups in the type of primary physician utilized or frequency of visits to the primary care physician. Immunizations were incomplete in 32.7% of the children with heart disease compared to only 2.5% in the control group (P<0.0001). Among the children over 3 years of age with heart disease, 29% had not received routine dental care within the past year compared with 23.4% in the controls (P=NS). The parents of children with heart disease were found to pay less money out-of-pocket for their child's health care than the parents of control children (P<0.0001). The data suggest that important aspects of primary health care were neglected in a large group of children with heart disease and that cost was not a major cause for the inadequate preventive care delivery. An educational program directed at health care professionals and parents is proposed.     

Pulmonary embolism in children

Unlike in adults, pulmonary embolism (PE) is an infrequent event in children. It has a marked bimodal distribution during the paediatric years, occurring predominantly in neonates and adolescents. The most important predisposing factors to PE in children are the presence of a central venous line (CVL), infection, and congenital heart disease. Clinical signs of PE are non-specific in children or can be masked by underlying conditions. Diagnostic testing is necessary in children, especially with the lack of clinical prediction rules. Recommendations for tests are derived from adult studies with ventilation/perfusion (V/Q) scintigraphy being well established. There exists an increasing role for computerised tomography pulmonary angiography (CTPA) and magnetic resonance pulmonary angiography (MRPA). Thrombotic events in children are initially treated with unfractionated heparin (UFH) or low molecular weight heparin (LMWH). For the extended anticoagulant therapy LMWH or vitamin K antagonists can be used with duration of treatment recommendations extrapolated from adult data. Mortality rates for PE in children are reported to be around 10%, with death usually related to the underlying disease processes. Exact data about recurrence risk in children is unknown. Because of the difference in aetiology, presentation, diagnostic methods and treatment between adults and children further research is necessary to assess the validity of recommendations for children.     

Management of pulmonary arterial hypertension in children

In this review we discuss the new anti- Pulmonary Arterial Hypertension [PAH] drugs and the available data on their use in paediatric PAH. Treatment of patients with PAH, children and adults, is aimed at a reduction of symptoms, survival and improvement of haemodynamics as well as exercise capacity. PAH may reflect significant different disease conditions in infants and children when compared to PAH in adults. In contrast to adult PAH, characterized mainly by idiopathic PAH and PAH associated with connective tissue disease, more than half of the cases of PAH in children are associated with congenital heart disease. Therefore, efficacy of PAH drugs in these diseases can not be extrapolated from that in adults with PAH.