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PubMed1987

Familial situs inversus and congenital heart defects.

The midline is a major determinant in the lateral symmetry of the embryo and represents a developmental field which, if defective, may lead to an abnormal situs determination. A family in which four out of seven children had situs inversus and/or congenital heart defects is presented. This report confirms the autosomal recessive inheritance of this developmental field defect.

Abnormalities, Multiple↗
PubMed1993

[Arrhythmias in the adolescent and adult with a congenital heart defect].

Rhythm disturbances may be observed in the natural history of congenital heart defects, as well as after open heart surgery. About 40-50% of adults with congenital heart defects will experience some type of arrhythmia. In the growing population of postoperative patients, the type of rhythm disturbance depends on the type of heart surgery: after operation at ventricular level, conduction disturbances and ventricular arrhythmias are quite common. After surgery at atrial level (e.g. closure of ASD, but much more after atrial correction of transposition), sick sinus syndrome and supraventricular arrhythmias are chiefly observed. Conduction disturbances may be subdivided into the very common intraventricular conduction defects (right bundle branch block, sometimes with left anterior hemiblock) and complete A-V block. Complete heart block has become less frequent in recent years since surgeons have learnt to avoid the bundle of His during VSD closure. All patients with postoperative complete heart block need a permanent pacemaker. Ventricular arrhythmias after ventricular surgery are commonly found if Holter recordings are done, particularly after correction of tetralogy. They are often asymptomatic but may be a cause of late sudden death (1-3% of patients operated on for tetralogy). Antiarrhythmic treatment is indicated if symptoms are present, or in selected asymptomatic patients with a poor hemodynamic result (severe residual pulmonary stenosis or ventricular dysfunction). Sinus node dysfunction and sick sinus syndrome are common after atrial repair of transposition (Mustard or Senning operation). The manifestations are either sinus bradycardia and sinus arrest with long pauses, or atrial reentry tachycardia (Flutter); these may combine, so that antiarrhythmic medication must be associated with permanent pacemaker implantation.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1981

Risks to the offspring of patients with some common congenital heart defects.

The families of 424 adult index patients with ventricular septal defect, right ventricular outflow tract obstruction, or combinations of these two abnormalities, were visited and interviewed, and whenever possible the children of index patients were examined clinically. Congenital heart defects were present in 9 of 308 children, 8 of 899 sibs, 4 of 840 parents, and 4 of 731 nephews and nieces of the index patients. The last three figures are likely to be underestimates owing to the design of the study. Comparison of pairs of affected relatives suggests that the group of lesions studied may have genetic determinants in common.

Adult↗
PubMed1998

The four-chamber view and its sensitivity in detecting congenital heart defects.

We sought to determine the sensitivity of detecting congenital heart defects with routine antenatal ultrasound including the four-chamber view in a population at low risk for cardiac anomalies. Neonatal outcome and anomaly databases were reviewed to identify cases of morphologic cardiac defects from 1988-1992. Of 176 cases identified, 62 (35%) had routine antenatal ultrasound including the four-chamber view. Thirteen of these 62 (21%) were diagnosed by ultrasound and 18 of the 116 (15%) total defects present were seen. Of these, only 16 of 25 (64%) defects reasonably expected to be seen by the four-chamber cardiac view alone were detected. The routine ultrasound four-chamber cardiac evaluation is limited and detection depends on the type of cardiac defect present.

Echocardiography↗
PubMed2005

Obstetric outcome of 6346 pregnancies with infants affected by congenital heart defects.

OBJECTIVE: To evaluate whether pregnancies with infants affected by congenital heart defects are associated with adverse obstetric and perinatal outcome. STUDY DESIGN: In a prospective population-based cohort study from Sweden (1992-2001), 6346 singleton pregnancies with infants affected by congenital heart defects were, after suitable adjustments, compared to all delivered women. RESULTS: The prevalence of cardiovascular defects was 9.1 per 1000 births. Among them, mothers of 6346 infants (71%) had information on maternal smoking habits and maternal height and weight in early pregnancy that enabled the calculation of BMI. All cases with known chromosomal abnormalities and/or maternal pre-existing diabetes were excluded. Eighty-four percent (n=5338) had an isolated cardiovascular defect. Severe types occurred in 21.7% (n=1378). In the group of pregnancies with infants affected by congenital heart defects as compared to all delivered women, there was an increased risk of the following outcomes (adjusted OR (95%CI)): pre-eclampsia (1.21 (1.06-1.37)), cesarean section (1.91 (1.79-2.03)), instrumental delivery (1.21 (1.10-1.34)), pre-term delivery (2.58 (2.39-2.79)), small-for gestational age (1.96 (1.77-2.16)), meconium aspiration (1.51 (1.28-1.77)), and fetal distress (1.38 (1.17-1.63)). CONCLUSIONS: Pregnancies with infants affected by congenital heart defects are associated with several obstetric and neonatal complications.

Cohort Studies↗
PubMed2006

[The competence network for congenital heart defects. Networking instead of isolated efforts for optimized research and care].

Congenital heart defects (CHD) are the most common congenital malformation; there is no clearly defined clinical picture. Although, thanks to medical progress, most of those affected survive into adulthood, they remain chronically ill throughout their lives and require specific care. By enabling nationwide cooperation and interdisciplinary research, the Competence Network for Congenital Heart Defects can provide and optimize this care. Clinical studies concerning clinical manifestations and recent diagnostic and treatment options can make use of the collected data. Being the core project of the Network, the National Register for congenital heart defects (registered association) registers all patients with a CHD throughout Germany. This data provides a basis for epidemiologic studies concerning quality of life and psychosocial aspects. Thus, integral care and swift transfer of knowledge between science and practice can be achieved. Meanwhile, pediatric guidelines could be developed and raised to S2 level. Additionally, the Register's results allow an assessment of the present situation of cardiac malformations, which is to be further evaluated in current studies. Particular attention is paid to the prevalence of CHD and adult patients' needs. In the long term, the concept of integrated care, and especially the idea of multidisciplinarity, is to be realized within the scope of a "health care database". All in all, the Competence Network for Congenital Heart Defects plays a substantial part in detecting needs and deficits of the current care for patients with CHD and helps developing strategies for an adequate and efficient care, while guaranteeing a high degree of transparency for those concerned.

Adult↗
PubMed2005

Normality of cardiopulmonary capacity in children operated on to correct congenital heart defects.

BACKGROUND: One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity. It is not known whether this goal can be achieved in school-aged children who have undergone cardiac surgery in infancy. OBJECTIVES: To determine if primary school-aged children who underwent surgery to correct congenital heart defects in infancy are physically as fit as their peers. METHODS: We examined 84 children with congenital heart defects, aged 4 to 11 years, after surgical repair. Fifty-two children had simple defects (ie, atrial or ventricular septal defect, coarctation of the aorta). Thirty-two children had complex defects (ie, tetralogy of Fallot, pulmonary atresia with ventricular septal defect). All patients underwent exercise testing performed on a specially modified bicycle ergometer. Ninety-eight sex- and age-matched healthy children served as the control group. RESULTS: There was no gender difference, either in healthy children or in the group with congenital heart defects, regarding exercise testing and that the healthy children reached a mean +/- SD normalized maximal performance of 2.8 +/- 0.3 W/kg. The same range was found for the children who had undergone surgery to correct simple heart defects. The children operated on to correct complex heart defects showed significantly impaired mean normalized maximal performance, although this tended to be lower in the group that had pulmonary atresia with a ventricular septal defect than in the group with tetralogy of Fallot (mean normalized maximal performance, 1.9 W/kg vs 2.3 W/kg). CONCLUSIONS: The goal of normal exercise capacity in childhood after heart surgery is achieved in those with simple heart defects only. In children with complex heart defects impaired exercise performance persists, depending on the severity of the heart defect and probably on chronotropic incompetence.

Adaptation, Physiological↗
PubMed1997

Diagnosing congenital heart defects using the Fallot computational model.

This paper describes a computational model developed for the diagnosis of multiple defects. If multiple defects interact, meaning that the cues observable for multiple defects are not a sum of the cues observable for the component defects, diagnosis is particularly difficult. We developed a description and classification of the ways cues change when defects interact. A computational model (named Fallot) was implemented and a knowledge-base was constructed for the diagnosis of congenital heart defects. On each case, Fallot performs recognition-based reasoning followed by solution construction and evaluation with the cue combination methods. Fallot was tested on cases from hospital files and correctly diagnoses cases with multiple interacting defects for which conventional methods are not applicable or fail.

Abnormalities, Multiple↗