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PubMed2002

Genetic counseling for congenital heart disease: new approaches for a new decade.

Congenital heart disease (CHD), which occurs in about 0.7% of all live-born children, is the leading cause of death from birth defects. Understandably, parents of patients, and increasingly patients themselves, are interested in the risk that further offspring will be affected. Advances in genetics now permit accurate estimation for many forms of CHD, especially the identification of patients and families with recurrence risks of up to 50%. The increased availability of genetic information, combined with the use of noninvasive imaging to look for subtle defects and targeted genetic testing, have demonstrated that the relevant question to ask about an individual's apparently isolated CHD is whether it is syndromic or familial. Syndromes that involve clinically important noncardiac findings may best be managed by, or in consultation with, a clinical geneticist. Other familial syndromes remain entirely within the purview of the cardiologist. The practicing cardiologist needs to continue to stay abreast of genetic discoveries in the field of CHD in order to provide proper management, including genetic counseling, to patients and their families.

Genetic Counseling↗
PubMed2002

Arrhythmias in patients with congenital heart disease.

Improved surgical outcome for patients with congenital heart disease (CHD) has created a rapidly expanding population of adolescents and young adult survivors. Cardiac arrhythmias are a common late sequelae of this form of heart disease. Effective treatment requires clear understanding of the underlying anatomic defect as well as the specific surgical interventions. Intraatrial reentrant tachycardia (IART) is the most common and difficult arrhythmia encountered in these patients. Traditional IART treatment with medication has been largely unsuccessful, but radiofrequency ablation has emerged in recent years as a promising option for many patients. The availability of three-dimensional mapping systems and irrigated-tip ablation catheters has improved acute success rates for IART to better than 90%. Postablation recurrence of IART still remains problematic for patients who have undergone the Fontan operation, in which case atrial maze surgery may be considered. Ventricular tachycardia (VT) is seen in a smaller number of CHD patients, most notably those with tetralogy of Fallot or aortic stenosis. The adoption of implantable defibrillator (ICD) therapy for these patients has improved outcome. Owing to their complex anatomy, the CHD population presents unique challenges during both catheterization and device implant. Multicenter study of this unique patient group is needed in order to develop more objective treatment guidelines.

Arrhythmias, Cardiac↗
PubMedDate not supplied

Menstrual patterns in women with congenital heart disease.

To examine the extent to which congenital heart disease (CHD) influences ovarian function, 98 women (mean age 32.7 years) were asked to complete a mailed questionnaire regarding their menstrual patterns. Patients were divided into acyanotic (60%) and cyanotic (38.8%) groups. Cycle lengths, duration of menstrual cycle, regularity of menses, amount of flow, and breakthrough bleeding were compared in these two groups and against age-matched controls. The mean age of menarche for the sample (13.4 years) was significantly different (p < 0.004) when compared to their controls (12.5 years). With the exception of breakthrough bleeding, statistical differences were not found between the study population and the controls. When the menstrual histories of cyanotic women were compared with those of acyanotic women, differences were found for all categories of menstrual patterns with the exception of the amount of menstrual flow. Menstrual patterns of cyanotic women compared to controls were found to be significantly different for all categories with the exception of amount of flow. In general, women with CHD have menstrual patterns similar to those in the general population.

Adolescent↗
PubMed1995

Quantification of right ventricular function with magnetic resonance imaging in children with normal hearts and with congenital heart disease.

In clinical treatment of children with congenital heart disease (CHD) assessment of right ventricular (RV) function is important. Available imaging techniques have been of limited value because of technical factors and the complex geometry of the right ventricle. To validate magnetic resonance (MR) imaging measurements of RV function in children, gradient echo MR imaging of both ventricles and MR flow mapping of great vessel and tricuspid flow was performed in 20 children with CHD affecting the right ventricle and in 22 healthy children ranging in age from 5 to 16 years. Close correlation between RV versus LV stroke volumes (r = 0.96) and RV stroke volume versus great artery (r = 0.97) or tricuspid flow (r = 0.97) was observed with small interobserver and intraobserver variability. Results of healthy children were end-diastolic volume: 70 +/- 9 ml/m2, end-systolic volume: 21 +/- 5 ml/m2, and ejection fraction: 70% +/- 4%. In the patient groups clinically important differences were noted. We conclude that MR imaging provides accurate noninvasive measurements of RV function in healthy children and patients with (operated) CHD.

Adolescent↗
PubMed2003

Stratification of pediatric heart failure on the basis of neurohormonal and cardiac autonomic nervous activities in patients with congenital heart disease.

BACKGROUND: Stratification of pediatric patients with congenital heart disease (CHD) has been based on their hemodynamics and/or functional capacity. Our purpose was to compare cardiac autonomic nervous activity (CANA) and neurohormonal activities (NHA) with postoperative status in stable CHD patients with biventricular physiology. METHODS AND RESULTS: We divided 379 subjects (297 CHD patients, 28 dilated cardiomyopathy patient, and 54 control subjects) into 4 subgroups according to New York Heart Association (NYHA) class (1.3+/-0.7) and measured various CANA and NHA indices. Stepwise decreases in baroreflex sensitivity (BRS), heart rate variability (HRV), adrenergic imaging, and vital capacity (VC) were observed in proportion to functional capacity in normal to NYHA II patients (P<0.001). However, there were no differences in these indices between NYHA II and III+IV groups, whereas a stepwise proportional increase in NHA indices was observed in these groups (P<0.001). Natriuretic peptides differentiated all NYHA classes. BRS, HRV, and VC were greater in the adult patients than in the child patients (P<0.05 to 0.01), although the functional class in adult patients was lower. Cardiac surgeries resulted in low BRS and VC, and the VC reduction independently determined a small HRV. Even if functional class and ejection fraction were comparable, CANA and brain natriuretic peptide were lower in CHD patients than in dilated cardiomyopathy patients (P<0.05 to 0.001). CONCLUSIONS: CANA and NHA indices are useful to stratify mild and severe heart failure in stable postoperative CHD patients, respectively. However, careful attention should be paid to age- and surgery-related influences on these indices.

Adolescent↗
PubMed2006

Health-related Quality of Life in children and adolescents after invasive treatment for congenital heart disease.

Since the 1980s treatment techniques for congenital heart disease (ConHD) have gradually evolved. Therefore, actual information on the outcomes, including quality of life is required. Health-related quality of life was assessed long-term in four diagnostic groups of children, who underwent invasive treatment for ConHD between 1990 and 1995. The scores on the TNO-AZL Child Quality of Life Questionnaire (TACQOL) of both children with ConHD and their parents were compared with those of a same-aged reference group. The total sample of ConHD children (n = 113, 8-15 years old) obtained significantly lower mean scores on motor functioning, cognitive functioning, and positive emotional functioning than reference peers, reflecting an experience of poorer functioning. ConHD children, aged 8-11 years, obtained lower mean scores on 5 of the 7 TACQOL scales than reference peers. They also had a lower score on positive emotional functioning than 12- to 15-year-old ConHD children. The total sample of ConHD children obtained lower outcomes compared to their parents on 4 of the 7 TACQOL scales. No significant differences were found in health-related quality of life between ConHD boys and girls, neither between different diagnostic groups. Overall, this sample of recently treated ConHD children showed a worse health-related quality of life compared to reference groups. These findings deserve further attention.

Adolescent↗
PubMed2005

Outcome of muscle and bone development in congenital heart disease.

Muscles and bones of patients with congenital heart disease (CHD) are subject to various potentially deleterious influences during growth. The aim of the present study was to analyse the outcome of bone and muscle parameters in adolescents and young adults with a spectrum of CHD. Bone and muscle parameters of the forearm were examined at two standard sites, 4% and 65%, in 29 adolescents and young adults with CHD, aged 14-24 years, by quantitative computed tomography. For the entire study population, bone and muscle parameters did not deviate significantly from the reference values except for age- and gender-corrected body height (ASDS-height: -0.6+/-1.2, p=0.01). Both age- and gender- and height- and gender-corrected (HSDS) abnormal bone mass (BMC) was found at the distal radius in patients with Fontan repair (ASDS-BMC4%: -1.5+/-0.9, p=0.008; HSDS-BMC4%: -1.2+/-1.0, p=0.05) and in those in NYHA class III (ASDS-BMC4%: -1.3+/-0.4, p=0.001; HSDS-BMC4%: -1.4+/-0.5, p=0.004). There was minimal overlap between Fontan patients (n=6) and NYHA class III (5 Fontan patients were in NYHA class I or II). In conclusion, most patients with CHD show a normal muscle and bone development in proportion to their reduced body height. Further follow-up is required to determine whether patients in a worse clinical status (NYHA III) and those with single ventricle physiology are at increased risk of osteoporosis and fractures.

Adolescent↗
PubMed2005

Association of 22q11 deletion with isolated congenital heart disease in three Chinese ethnic groups.

BACKGROUND: Congenital heart disease (CHD) is the most common type of heart disease among children. About 75% of DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS) includes CHD. A deletion within chromosome 22q11.2 has been identified in the majority of patients with DGS and VCFS. And 22q11.2 deletion has become one of the markers used to study CHD in these syndromes. Whether 22q11.2 deletion is associated with isolated CHD is not known and was the topic of this study. METHODS AND RESULTS: We studied the 22q11.2 deletion in three Chinese ethnic groups (Tai, Bai and Han people) with 19 sporadic, isolated CHD by genotype and haplotype analysis with D22S420 etc. 11 consecutive polymorphic microsatellite markers. Among 19 isolated CHD patients, four had Tetralogy of Fallot (TOF), five exhibited Ventricular Septal Defect (VSD), five showed Atrial Septal Defect (ASD) and 5 had Patent Ductus Arteriosus (PDA). In some isolated CHD patients, 3 Mb and 1.5 Mb deletion to chromosome 22q11.2 was found. 2 of 4 TOF (50%) and 1 of 5 VSD (20%) and 1 of 5 PDA (20%) respectively were found to have deletions at D22S944. CONCLUSIONS: 22q11.2 deletion can be detected in isolated TOF, VSD and PDA of three Chinese ethnic groups, without detectable 22q11.2 deletion in those isolated ASD patients examined thus far. Our finding may be the first to show the 22q11.2 deletion in sporadic, isolated PDA/VSD patients whose family members are without CHD. In addition, D22S420 etc. 11 consecutive polymorphic microsatellite markers are very useful for the determination of 22q11.2 deletion in isolated CHD in China.

Alleles↗
PubMed2002

The genetics of congenital heart disease: a point in the revolution.

Extraordinary diagnostic precision and definitive therapies characterize the current management of congenital heart disease, but the state of the art is not perfect; and in spite of tremendous progress in diagnosis and treatment, our understanding of cause is rudimentary. During the past decade, advances in molecular genetics have defined disease gene loci and lead to identification of genes whose mutations cause congenital heart disease. Identification of additional genes and mutations will lead to improved understanding of pathophysiology of cardiovascular disease in the young. Better understanding of pathophysiology and identification of individuals at risk will provide an opportunity to develop preventive strategies. Taken as a whole, the prospect of understanding the genetic basis of congenital heart disease and translating it into improved diagnostic and therapeutic strategies has never been better.

Animals↗
PubMed2005

The RACHS-1 risk categories reflect mortality and length of stay in a Danish population of children operated for congenital heart disease.

OBJECTIVE: The Risk Adjusted classification for Congenital Heart Surgery (RACHS-1) was created in order to compare in-hospital mortality for groups of children undergoing surgery for congenital heart disease. The method was evaluated with two large multi-institutional data sets-the Paediatric Cardiac Care Consortium (PCCC) and Hospital Discharge (HD) data from three states in the USA. The RACHS-1 classification was later applied to a large German paediatric cardiac surgery population in Bad Oeynhausen (BO), where it was found that the RACHS-1 categories were also associated with length of stay. We applied the RACHS-1 classification to the 957 operations performed during January 1996 to December 2002 at Skejby Sygehus, Denmark and we examined the association between the RACHS-1 categories, in-hospital mortality and length of stay in the Intensive Care Unit. METHODS: The operations were classified according to the six RACHS-1 categories by matching the procedure of each patient with a risk category. The ability of the RACHS-1 classification to predict mortality in our population was examined by estimating the area under the receiver operator characteristic (ROC) curve. Likelihood ratio chi(2) tests were used to compare the distribution of RACHS-1 categories and the distribution of mortality with PCCC, HD and BO. Linear regression was used to examine the correlation between the RACHS-1 categories and length of stay in the Intensive Care Unit. RESULTS: The RACHS-1 category frequencies in our population were: category 1: 18.4%, category 2: 37.4%, category 3: 34.6%, category 4: 8.2%, category 5: 0% and category 6: 1.5%. The overall ability of the RACHS-1 classification to predict in-hospital mortality (area under the ROC curve 0.741; 95% confidence interval=0.690; 0.791) was equal to the findings from larger populations. We found no differences in the category specific mortality when comparing with the larger reported series. There was a positive association between RACHS-1 category and length of stay in the Intensive Care Unit. CONCLUSIONS: The RACHS-1 classification can also be used to predict in-hospital mortality and length of stay in the Intensive Care Unit in a small volume centre.

Body Weight↗
PubMed2003

Prolonged candidemia in infants following surgery for congenital heart disease.

OBJECTIVES: To describe a group of infants with complex congenital heart disease (CCHD) who had candidemia postoperatively and to perform a case-control study of risk factors. DESIGN: Descriptive and case-control study. SETTING: Tertiary-care medical centers. PATIENTS: Infants with CCHD who underwent cardiac surgery and developed candidemia. Controls were matched for congenital heart disease lesions, age, and postoperative hospital stay. RESULTS: Of 95 infants younger than 6 months with CCHD who underwent cardiac surgery between January 1999 and April 2001, 6 (6.3%) developed candidemia with 5 different species. The candidemia was prolonged (range, 12 to 32 days; median, 17 days). The interval between cardiac surgery and onset of candidemia was 12 to 57 days (median, 24 days). All had a central venous catheter inserted 8 to 50 days prior to the onset of candidemia. The mortality rate was 83%, compared with 13% for the group without candidemia. A univariate analysis of the potential risk factors revealed that duration of total parenteral nutrition (TPN), duration of antibiotics, intraoperative cardiopulmonary bypass time, and documentation of an intravascular thrombus were associated with candidemia. In multivariate analysis, long duration of TPN and documentation of a thrombus were associated with candidemia. CONCLUSIONS: Candidemia following cardiac surgery for infants with CCHD was persistent and associated with high mortality. The variety of species indicates that this was not a common-source outbreak. Risk factors associated with candidemia were duration of TPN and documentation of an intravascular thrombus.

Candida↗
PubMedDate not supplied

Autoregulation of cerebral blood flow in fetuses with congenital heart disease: the brain sparing effect.

Fetuses with congenital heart disease (CHD) have circulatory abnormalities that may compromise cerebral oxygen delivery. We believe that some CHD fetuses with decreased cerebral oxygen supply have autoregulation of blood flow that enhances cerebral perfusion (brain sparing). We hypothesize that cerebral autoregulation occurs in CHD fetuses, and the degree of autoregulation is dependent on the specific CHD and correlates with intrauterine head circumferences. CHD fetuses were compared to normal fetuses. Data included cardiac diagnosis, cerebral and umbilical artery Doppler, head circumference, weight, and gestational age. The cerebral-to-placental resistance ratio (CPR) was assessed as a measure of cerebral autoregulation. CPR = cerebral/umbilical resistance index (RI) and RI = systolic-diastolic/systolic velocity (normal CPR > 1). CPR > 1 was found in 95% of normal vs 44% of CHD fetuses. The incidence of CPR < 1 was greatest in hypoplastic left or right heart fetuses. Compared to normal, cerebral RI was decreased in CHD fetuses. The CPR vs gestational age relationship, and the relationship among weight, head circumference, and CPR differed across normal and CHD fetuses. Fetuses > 2 kg with CHD and a CPR < 1 had smaller head circumferences than normal. Brain sparing occurs in CHD fetuses. Fetuses with single ventricular physiology are most affected. Inadequate cerebral flow in CHD fetuses, despite autoregulation, may alter brain growth.

Blood Flow Velocity↗
PubMedDate not supplied

Brain abscess in cyanotic congenital heart disease.

Twenty-eight patients of cyanotic congenital heart disease (CHD) complicated with brain abscess were reviewed. There were 22 males and 6 females with a mean age of 9.1 +/- 5.5 years. Tetralogy of Fallot was the commonest cyanotic CHD observed. Transposition of great arteries (PS), tricuspid atresia with VSD, PS and double outlet right ventricle with VSD comprised 25% of the cardiac lesions. Febrile illness was the commonest mode of presentation (42.86%). Frontal lobe was the commonest site of abscess localization (37.5%) followed by parietal lobe (32.5%). Multiple abscess were seen in 32.14% and in 35.7% the pus was sterile on culture. Twelve patients died (mortality -42.8%), and autopsy reports were available in 6. Infective endocarditis was suspected in 7 on clinical grounds, while at autopsy, out of 6 only 2 had evidence of right-sided endocarditis. There was no correlation of mortality with age, sex, type of micro-organism, site of abscess localization and the nature of heart disease. Multiple abscesses, features of raised intracranial tension and associated meningitis/ventriculitis predicted a grim outcome.

Brain Abscess↗
PubMed2005

What does it mean to live with a congenital heart disease? A qualitative study on the lived experiences of adult patients.

BACKGROUND: Adults with congenital heart disease constitute a relatively new and continuously growing patient population. In addition to medical problems, patients perceive specific psychosocial concerns that influence their lived experiences and quality of life. AIM: This study aimed to explore the lived experiences of adult congenital heart disease patients. METHODS: Unstructured, in-depth interviews were performed with 12 patients, aged between 25 and 40 years and suffering from moderate or severe heart defect (tetralogy of Fallot, transposition of the great arteries). Interviews were tape recorded and transcribed verbatim. Data were analyzed using Grounded Theory procedures. RESULTS: Feeling different was the central theme of the patients' lived experience, as they are faced with physical limitations and visible signs due to the heart defect. The experienced discordance between their world and healthy individuals' world implies that patients struggle constantly with themselves and with their environment to be accepted as normal. The feeling of being different was influenced by attitudes of the environment, health care, and patient's personality. Moreover, it determined the perceived impact of the disease on the patient's daily life. CONCLUSION: This study shows that normalisation is the most important process when dealing with patients suffering from a congenital heart disease.

Activities of Daily Living↗
PubMed2005

Nutrition care for newborns with congenital heart disease.

Those health care professionals entrusted with the care of infants with congenital heart disease require an understanding of the unique nutritional needs of this population. This article defines the congenital, physiologic, and nutritional variables encountered in this population. The nutritional needs, multi-factorial sources of undernutrition, and consequences of inadequate nutrition in infants with congenital heart disease are discussed, as well as medical and nutritional management strategies intended to optimize growth and reduce morbidity.

Clinical Trials as Topic↗