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PubMed1992

The role of transvaginal sonography in the early detection of congenital heart disease.

The antenatal diagnosis of congenital heart disease by fetal echocardiography is rarely achieved before 18-20 weeks' gestation. Transvaginal sonography allows examination of fetal anatomy at earlier gestations than the transabdominal approach. In a screening study of 270 low-risk women between 8 and 14 weeks' gestation using a 5 MHz vaginal transducer, it was possible to obtain adequate four-chamber views in over 70% from 12 weeks. In a second study of 32 women at high risk of congenital heart disease scanned between 14 and 15 weeks' gestation, satisfactory views were obtained transvaginally in 21 women. Seven of the remainder had normal cardiac anatomy confirmed by transabdominal scanning. In three of the four where normal cardiac anatomy could not be demonstrated by either transvaginal or transabdominal scanning, severe congenital heart disease was diagnosed and later confirmed. It is unlikely that transvaginal sonography will replace abdominal scanning for the screening of low-risk pregnancies, but it is a valuable addition to the early examination of those women identified as being at high risk of congenital heart disease.

Journal Article↗
PubMed2006

[Antenatal screening for congenital heart disease: a retrospective analysis of 20 years of experience].

BACKGROUND: Congenital heart disease is often severe and outcome remains uncertain. In some cases, early intervention at birth can improve the prognosis. Prenatal detection of congenital heart disease by ultrasound may improve outcome for foetuses with congenital heart disease but today, results are not convincing. The purpose of this review was to describe the detection of congenital heart disease in a non selected population. METHODS: A retrospective study was undertaken to evaluate the prenatal detection of congenital heart disease in our department from 1984 to 2003. RESULTS: Incidence of congenital heart disease was 4.9. Sensitivity of detection was 60%, specificity was 99.9%. Most cases were severe heart diseases. In 57 fetuses (40%), congenital heart disease was not detected. Thirty-seven fetuses (65%) presented minor disease; in 20 fetuses (35%), congenital heart disease was found to be severe. Effectiveness of detection of major congenital heart diseases has increased since 2000. CONCLUSION: Large-scale fetal heart screening is necessary for early detection of congenital heart disease and improved outcome.

Female↗
PubMed2002

Negative thoughts in adults with congenital heart disease.

BACKGROUND: Many patients with congenital heart disease have persistent cardiac defects, psychosocial adjustment problems, and a poor quality of life. This study tested the relationship between negative thoughts and adaptation to congenital heart disease. METHODS: Eighty-two adult out-Patients with congenital heart disease were divided on the basis of few, moderate or many negative thoughts. Group differences were tested in medical and psychosocial adjustment variables (including negative emotions), and quality of life. RESULTS: Patients with many negative thoughts scored worse on psychosocial adjustment and quality of life, irrespective of severity of cardiac deviation, according to the cardiologist, New York Heart Association classification, number of passed and expected surgery, or use of medication. CONCLUSION: Negative affect in general, rather than negative thoughts is decisive in psychosocial adjustment and quality of life. Psychological intervention would be helpful for many patients.

Adaptation, Psychological↗
PubMed2005

The spectrum of adult congenital heart disease in Europe: morbidity and mortality in a 5 year follow-up period. The Euro Heart Survey on adult congenital heart disease.

AIMS: To describe clinical and demographic characteristics at baseline of a European cohort of adults with congenital heart disease (CHD) and to assess mortality and morbidity in a 5 year follow-up period. METHODS AND RESULTS: Data collected as part of the Euro Heart Survey on adult CHD was analysed. This entailed information transcribed from the files of 4110 patients diagnosed with one of eight congenital heart conditions ('defects'), who consecutively visited the outpatient clinics of one of the participating centres in 1998. The patients were included retrospectively and followed until the end of 2003 for a median follow-up of 5.1 years. Notwithstanding their overall relatively good functional class and low mortality over the follow-up period, a considerable proportion of the patients had a history of endocarditis, arrhythmias, or vascular events. There were major differences between the eight defects, both in morbidity and regarding specific characteristics. Outcomes were worst in cyanotic defects and in the Fontan circulation, but a considerable proportion of the other patients also suffer from cardiac symptoms. In particular, arrhythmias are common. CONCLUSION: The spectrum of adult CHD in Europe emerging from this survey is one of a predominantly young population with substantial morbidity but relatively low mortality in a 5 year period.

Adolescent↗
PubMed2001

[Prenatal detection and management of congenital heart disease].

Antenatal diagnosis of congenital heart diseases rests on a two steps procedure. 1) A first intended fetal echocardiography which takes place during the two first trimesters of gestation, either early oriented by the familial or maternal history or the finding of fetal developmental abnormalities (intra uterine growth retardation, defects), or systematically performed as part of the fetal echography of the second trimester. 2) A second echocardiography which is part of a specialized cardiologic evaluation; its aims are to define the cardiac phenotype, to specify the hemodynamic tolerance of the heart defect, to orientate the genetic diagnosis, and finally to evaluate the cardiac prognosis.

Echocardiography↗
PubMed1989

[Instantaneous velocity parameters of expiration in patients with congenital heart disease].

Nineteen patients suffering from congenital heart diseases were examined by means of the apparatus Pneumoscreen manufactured by Eger Company (FRG) and the mechanocardiograph H-106 designed by N. I. Savitsky, which synchronously recorded the curves of the volumetric speed of the flow and intrathoracic pressure. Analysis was made of the relationship of the magnitude of the instant maximal velocity characteristics of forced expiration in all lung capacities and their time-course of changes to the total pulmonary resistance. It is revealed that the decrease of the maximal velocity characteristics of forced expiration in large pulmonary capacities was directly proportional to the degree of pulmonary tissue rigidity in patients with congenital heart diseases and corresponded to the degree of hemodynamic disorders in pulmonary circulation. The fall of the instant velocity of forced expiration in small lung capacities in patients with congenital heart diseases evidences not only the presence of bronchial obstruction but also high total pulmonary resistance.

Adolescent↗
PubMed1994

Immunological profile in congenital heart disease.

Fifty children with established congenital heart disease (CHD) were surveyed for the immune profile. Ventricular septal defect (VSD) was the commonest lesion (56%) followed by Tetralogy of Fallot (ToF; 16%), atrial septal defect (ASD; 8%), patent ductus arteriosus (PDA; 4%), transposition of great arteries (TGA; 4%), aortic stenosis (AS; 4%), and pulmonic stenosis (PS), tricuspid atresia (TA), single ventricle with pulmonic stenosis (SV with PS) and dextrocardia with ToF (2% each). Immunoglobulins (IgG, IgA and IgM) were estimated. IgG and IgA levels were significantly reduced in all children with congenital heart disease, whereas IgM levels were increased in cyanotic but unaffected in the acyanotic group. Complement C3 and C4 levels were reduced in all, more so in cyanotics. T-helper cells were decreased and T-suppressor cells were increased in all groups with congenital heart disease as compared to controls. B-cell percentage was increased in cyanotics but not affected in the acyanotics.

Antibody Formation↗
PubMed2006

Stroke in congenital heart disease and patent foramen ovale.

Congenital heart disease is usually regarded as an esoteric field of medicine, dealt with primarily by dedicated specialists. However, over the last two decades, increased attention has been given by the medical profession, the media and the general public to the possible association between a minor and common congenital heart defect, namely patent foramen ovale, and stroke. In recent months, unusual and unfortunate circumstances have made this topic one of the most fiercely debated medical issues in Israel. It is the belief of the authors of this paper that the association of PFO and stroke can be better understood if the PFO is viewed as part of the broader context of congenital heart disease, and as such it will be presented. Paradoxical embolism is a mechanism of stroke unique to congenital heart disease. The direction and volume of shunted blood in various conditions have a central role in determining the risk of stroke, as will be explained. With this basic knowledge in mind, we shall critically assess the potential role of PFO in stroke patients, suggesting that each case be evaluated individually using the above-mentioned principles. Conditions that enhance the formation of clot or other embolic material will be discussed briefly. The review will conclude with the various treatment options and our center's own experience with this challenging topic.

Adult↗
PubMed1997

Accuracy of routine ultrasonography in screening heart disease prenatally. Gruppo Piemontese for Prenatal Screening of Congenital Heart Disease.

The aim of the present study was to assess the accuracy of the four-chamber view as a screening test for detection of congenital heart disease (CHD) prenatally in a low-risk population. A prospective observational study was conducted in 17 ultrasound units of the Piemonte Region, Italy, in pregnancies with no risk factors for CHD. At each routine scan, from 18 weeks of gestational age, the four-chamber view of the heart was looked for. When an anomaly was suspected, the patients were referred to a specialized unit. Follow-up of the babies until discharge from the hospital was obtained. 11,232 sonograms were performed on 8299 pregnancies. Cardiac malformations were diagnosed in 40 newborns (4.8/1000). Six of them (15 per cent) had been recognized in utero. The sensitivity, specificity, and positive and negative predictive values were 15, 99.9, 50, and 99.6 per cent, respectively. When malformations that are not associated with an abnormal four-chamber view were excluded from the analysis, the sensitivity increased to 35.3 per cent. The sensitivity found in this study is low, but it is probably realistic since it is comparable to that reported in other multicentric studies. This type of study should reflect the state of the art of the method applied in the field. Although the sensitivity is low, it would be nil if the test were not performed. Moreover, it will probably increase with better training of the operators and by extending the examination to the ventriculo-arterial connections.

Female↗
PubMed2004

Assessment of symptoms and exercise capacity in cyanotic patients with congenital heart disease.

OBJECTIVES: Patients with cyanotic congenital heart disease are generally thought to be limited by hypoxemia. To correlate exercise tolerance to the severity of the cardiac abnormality and to further characterize dyspnea in affected patients, we examined 25 adults with uncorrected cyanotic congenital heart disease. DESIGN AND SETTING: Cohort study at a university hospital. METHODS: Symptom-limited cardiopulmonary exercise testing (CPX) was performed on a treadmill. Expiratory gas was analyzed breath by breath for evaluation of maximal exercise performance, ventilation, and ventilatory efficiency in combination with blood gas analysis during rest and exercise. Symptoms were assessed by the ability index and New York Heart Association class, and the results were compared to 101 healthy volunteers. RESULTS: PaO(2) decreased by 26 +/- 8% (mean +/- SD) with exercise (from 49 +/- 12 to 36 +/- 10 mm Hg), while PaCO(2) was only slightly decreased compared to control subjects. Peak oxygen uptake (O(2)) was significantly reduced when compared to control subjects: 16.7 +/- 6.6 mL/kg/min vs 36.1 +/- 7.7 mL/kg/min. Ventilatory efficiency was markedly impaired at rest (minute ventilation [E]/carbon dioxide output [CO(2)] ratio of 70 +/- 18; control subjects, 53 +/- 11; p < 0.005) and during exercise (E vs CO(2) slope, 58 +/- 31; control subjects, 26 +/- 4; p < 0.005). At rest, ventilatory efficiency was correlated to resting pH and PaO(2), while during exercise it was linked to PaO(2). Ventilatory efficiency during exercise had the strongest correlation with observed symptoms, while hypoxemia and peak O(2) were not significantly associated with symptomatic state. CONCLUSION: CPX in patients with cyanotic congenital heart disease provides helpful parameters that better define the symptomatic state of these patients. The summation of disease-related factors is best reflected by ventilatory efficiency. This parameter offers additional and independent information when compared to peak O(2) and the extent of cyanosis alone.

Adolescent↗
PubMed2003

Birthweight distribution in southern Chinese infants with symptomatic congenital heart disease.

OBJECTIVE: Western infants with congenital heart disease have frequently been reported to have a low birthweight for gestational age. Studies in Asian infants seem to be lacking in this area. This is the first extensive study presenting the birthweight distribution of Chinese newborns with symptomatic congenital heart disease. METHODS: The birth data of 454, mainly southern-Chinese infants with symptomatic cardiovascular defects, born between 1990 and 1995 and admitted to Grantham Hospital, Hong Kong in 1994 and 1995, were analysed retrospectively. Infants with (non)-genetic syndromes or other major extracardiac malformations were excluded. RESULTS: Fifteen per cent of all newborns had a birthweight below the reference mean of - 2 Z-score. After correction for length of gestation, no significant difference could be detected in birthweight between the cyanotic and acyanotic groups, nor between the different haemodynamic disturbances. Infants with atrial or ventricular septal defects, tetralogy of Fallot, pulmonary atresia with ventricular septal defect, heart with univentricular atrio-ventricular connection or double outlet right ventricle showed significant birthweight deficits. Transposition of the great arteries was not related to being small for gestational age. CONCLUSIONS: Similar to Western infants, prenatal growth impairment was a common feature in Chinese infants with symptomatic congenital heart disease. The birthweight distribution in Chinese might be comparable to that in Western populations. Exceptions are possibly the high frequency of low birthweight in Chinese newborns with atrial septal defect or a single-ventricle abnormality. Further studies on fetal anthropometry and haemodynamics are necessary to provide insight into the relation between cardiovascular malformations and being small for gestational age.

Asian People↗
PubMed1986

Exercise testing in children with congenital heart disease.

In children with congenital heart disease, interest concerning cardiovascular performance capacity is directed mainly to the operated patient. Indirect and/or submaximal tests to assess cardiovascular ability are based on assumptions that are at least partially incorrect, so that test results may not be valid. Standardization of values should be performed according to body height, but should also account for age. There is a lack of information concerning the cardiovascular performance capacity of children following Senning or Mustard operations for transposition of the great arteries and following Fontan procedures for different malformations. In considering participation in sports, it should be realized that it is not the cardiovascular performance capacity that generally plays a dominant role. In technical disciplines and in short-term efforts, motor performance may be more important. Endurance training cannot be recommended in view of the anatomical disorders still present in many patients after cardiac surgery. Ergometry can add information on dysrhythmias, which may cause problems postoperatively, but may also be present without organic heart disease.

Adolescent↗
PubMed2005

CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results.

INTRODUCTION: Survival of patients with congenital heart disease has dramatically improved after surgical repair became available 40 years ago. Instead of a mortality of 85% during childhood following the natural course, over 85% of these infants are now expected to reach adulthood. However, data on long-term outcome is scarce due to the lack of large, national registries. Moreover, little is known about the genetic basis of congenital heart defects. In 2000, the Interuniversity Cardiology Institute of the Netherlands and the Netherlands Heart Foundation have taken the initiative to develop a national registry and DNA-bank of patients with congenital heart disease in the Netherlands named CONCOR. OBJECTIVES: The aims of the CONCOR project are to facilitate investigation of the prevalence and long-term outcome of specific congenital heart defects and their treatment, to develop an efficient organisational structure for the improvement of healthcare for patients with congenital heart disease, and to allow investigation of the molecular basis of congenital heart defects. METHODS: After informed consent, research nurses enter data of participating patients into the CONCOR database using a web application. Data is transferred over the Internet via a secure connection. About 20 ml blood is withdrawn from the patient, and the DNA is isolated and stored. From each participating patient family history on congenital heart disease is obtained. RESULTS: Within two and a half years more than 4200 patients have agreed to participate. More than 99% of the patients that were asked have given their consent to participate in CONCOR. From 60% of these patients DNA has already been obtained. Mean age of the patients included is 34 years; more than 85% of the patients are younger than 45 years. Late complications occur frequently and the incidence increases with advancing age. 18% of the patients are known with supraventricular or ventricular arrhythmias. 2% of the included patients suffered a cerebrovascular accident, 139 (3%) had endocarditis. 6% of the patients has pulmonary hypertension or Eisenmenger syndrome. More than 15% of the patients reported an affected family member with congenital heart disease in the first, second, or third degree. 6% has an affected first-degree relative, and 4% a second-degree relative. Already 10 research projects have started using the CONCOR data and DNA. CONCLUSION: The population of patients with congenital heart disease is young and rapidly growing. Late complications occur frequently and the incidence increases with advances age. The CONCOR registry and DNA-bank facilitates research on prevalence and long-term outcome and allows investigation of the molecular basis of congenital heart disease.

Academies and Institutes↗
PubMed1994

Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus.

OBJECTIVE: This report describes our experience with fetal congenital heart disease since 1980. BACKGROUND: Knowledge and expertise in the diagnosis, management and natural history of fetal congenital heart disease is increasingly demanded by both obstetricians and parents. The analysis of a large series should help the pediatric cardiologist to provide this service. METHODS: The notes of 1,006 patients, where a prospective diagnosis of fetal congenital heart disease was made, were reviewed. The reason for referral, the diagnosis made, the accuracy of diagnosis, the fetal karyotype and the outcome of the pregnancy were noted. The cases were grouped into malformation categories, and the spectrum of disease seen was compared with that found in infants. RESULTS: Most fetal cardiac anomalies are now suspected by the ultrasonographer during obstetric scanning. A different incidence of abnormalities is seen compared with that expected in infants. Chromosomal anomalies were more frequent in the fetus than in live births. The accuracy of diagnosis was good. The survival rate after diagnosis was poor because of frequent parental choice to interrupt pregnancy and the complexity of disease. CONCLUSIONS: A large experience with fetal congenital heart disease allows the spectrum of disease to be described with accuracy and compared with that in infancy. Knowledge of the natural history of heart malformations when they present in the fetus allows accurate counseling to be offered to the parents. If the trend in parental decisions found in this series continues, a smaller number of infants and children with complex cardiac lesions will present in postnatal life.

Female↗
PubMed2001

Delayed recognition of haemodynamically relevant congenital heart disease.

UNLABELLED: Delayed recognition of congenital heart defects may have a serious impact on the long-term outcome of the children affected. It was the aim of the present study, to evaluate the proportion of children with delayed cardiac diagnosis out of a large cohort of consecutive paediatric patients requiring treatment for congenital heart disease. A prospective study was performed over a 3-year period. Of all 323 paediatric patients requiring surgical (n = 291) or catheter interventional (n = 32) treatment for congenital heart disease, patients with delayed diagnosis of their cardiac defects were observed and especially examined for the presence of clinical cardiac findings other than systolic murmurs, not recognized as such prior to referral. Of all the patients, 32 (10%) had delayed diagnosis of heart defects. Surprisingly, the proportion of late diagnoses was not different in the group of patients with cyanotic heart disease where 7/72 patients were referred with delay, compared to 25 delayed referrals among 251 children with acyanotic heart defects. Of the 32 patients with delayed diagnosis, 7 had complications due to delayed referral, but there was no mortality associated with late diagnosis. CONCLUSION: A substantial proportion of all paediatric patients requiring intervention for heart disease were diagnosed with relevant delay. In all study patients with late diagnosis, clinical cardiac findings other than systolic murmurs were present that should have alerted the physician on the possible presence of underlying heart disease.

Adolescent↗
PubMed2000

[Incidence and invasive treatment of congenital heart diseases in Hajdu-Bihar county].

The incidence of congenital heart diseases was evaluated in the period 1994-1998. The number of those who went through therapeutic intervention and those infants dying of congenital heart disease were also assessed. Data were collected retrospectively. During the study period 26,932 live-births occurred in Hajdú-Bihar county and 421 congenital heart disease were diagnosed, 81% of whom were diagnosed under the age of one year. The most frequent diseases were secundum type atrial septal defect, ventricular septal defect and patent ductus arteriosus. 121 therapeutic procedures were performed (109 operations and 12 interventional heart catheterizations). 41 interventions occurred under the age of one and 13 before the age of 28 days. The mean age of children older than 1 year was 6 years at the time of the operation or interventional catheterization. The overall postoperative mortality within 30 days was 8.3%. During the study period 28 infants with significant heart disease died, 20 of whom also had an associated disease (most frequently prematurity). For congenital heart disease 4.5 operations or interventional heart catheterizations were required/1000 live births. The higher rate of diagnosed congenital heart disease is due to the development in diagnostic techniques, especially to Doppler-echocardiography. Owing to the operational waiting list the children's age at the time of operation is higher than optimal. The mortality among infants with heart disease is influenced by many factors, that is why stepping forward is a complex task in this field.

Adolescent↗
PubMed2004

Growth and development of children with congenital heart disease.

BACKGROUND: Children with congenital heart disease (CHD) commonly experience delayed growth. Because growth and development are closely related, both should be considered when a child's progress is examined. PURPOSE: This paper reports a study to evaluate and compare the growth and development of preschool children with CHD to those of normal preschool children. METHODS: The heights and weights of 42 preschool children with CHD and 116 normal preschool children were compared with standard growth curves. Differences in development of personal and social skills, fine motor skills and adaptability, language, and gross motor skills were evaluated. Developmental skills were assessed using the Denver Developmental Screening Test II. RESULTS: A significant difference was found in both body height (P < 0.05) and weight (P < 0.05) between the two groups. More preschoolers with congenital hear disease were below the 50th percentile in height (P < 0.05) and weight (P < 0.001). Preschoolers with CHD had more suspicious interpretations than non-CHD preschoolers, specifically in the language (P < 0.01) and gross motor sections (P < 0.001). Nevertheless, there were two items in the personal-social section and one in the language section on which the children with heart disease passed in the range of 55.6-63.2%. Problems were encountered with the Denver II test because of differences in language, culture and childrearing methods between Taiwanese and Western societies. These cultural differences must be considered when the test is used to assess development. CONCLUSIONS: Learning about the growth and developmental differences between children with CHD and normal children may help parents of the former to detect problems associated with delayed growth and development earlier. These children and their families should have the opportunity to participate in a long-term, follow-up programme that provides information and encourages developmental progress. The results could serve as a reference for those in both clinical and community workers who provide nursing care to children with CHD.

Child↗