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Neonates with congenital heart disease.

Early reparative surgery in neonates and infants with congenital heart disease, as opposed to initial palliation and later repair, is now commonplace. Changes to the conduct of cardiopulmonary bypass, timing of surgery and surgical techniques, and perioperative management substantially have reduced the postoperative mortality and morbidity for these patients. The success of this strategy of early reparative surgery now has been extended to the premature and low-birth-weight newborn, and, along with this, new challenges to postoperative care in the intensive care unit. However, the low mortality associated with two-ventricle repairs has not been the experience in newborns undergoing palliation for single-ventricle defects, in particular, hypoplastic left heart syndrome. A number of articles regarding management of newborns with single-ventricle defects have been published during the past 12 months, ranging from classification, prenatal diagnosis, treatment options, and predictors of both early and late outcome, which may provide a guide for patient management. As mortality has declined, there has been an increased emphasis on identifying indices that may predict outcome or morbidity both before and after surgery, along with possible strategies to attenuate adverse clinical responses. The inflammatory response to bypass is heightened in neonates and infants, and several reports have addressed possible techniques for attenuating the response. In addition, reports regarding the risk for necrotizing enterocolitis, the utility of lactate as an index of systemic perfusion, potential markers of myocardial and neurologic injury, and the use of mechanical support of the circulation in newborns with congenital heart disease are summarized.

Cardiopulmonary Bypass↗

Surgical treatment of congenital heart disease; the evaluation of diagnostic data.

In the diagnosis of congenital heart disease, the cardiologist was formerly concerned with distinguishing the operable from the inoperable cases. With the development of "open" heart operations under hypothermia and extracorporeal circulation, the majority of congenital heart lesions have become correctable. It is now necessary to make an exact anatomic diagnosis preoperatively. The present discussion reviews the diagnostic methods employed by the cardiac team in investigating a patient with congenital heart disease.

Cardiac Surgical Procedures↗

Interventional catheterization in congenital heart disease.

The field of interventional catheterization in congenital heart disease has seen an explosion in application and scope over the past 10 years. In some lesions, such as valvar pulmonic stenosis, the transcatheter approach has replaced surgery as the treatment of choice. Applications currently considered experimental will no doubt become standard therapy as experience is gained with their use. Being able to avoid or postpone surgery has emotional, aesthetic, and practical advantages to patients and their families. The role of the catheter interventionist will continue to grow as new technologies such as fiberoptics, lasers, and miniaturized electromechanical devices are incorporated.

Adolescent↗

Analysis of single nucleotide polymorphisms and haplotypes in HOXC gene cluster within susceptible region 12q13 of simple congenital heart disease.

OBJECTIVE: In the candidate region 12q13 of simple congenital heart disease(CHD), four single nucleotide polymorphisms(SNPs) in HOXC4 gene were chosen in order to investigate the distribution of SNP and haplotypes in simple CHD patients and normal people. METHODS: The genotype of 4 SNPs in 108 simple CHD patients and 200 normal people were analyzed by restriction fragment length polymorphism(RFLP) and denaturing high-performance liquid chromatography(DHPLC). The statistical contingency table method was used to analyze SNP genotype frequency and gene frequency in patients and control group; then, the haplotypes were established and their frequencies in the two groups were assessed by PHASE software. RESULTS: C16476T polymorphism was not detected; A17860G located in 3' flanking sequence of HOXC5 gene displayed significant difference between the two groups. The G allele frequency in simple CHD patients was higher than that in healthy controls(P < 0.05); the distribution of frequencies of 4 haplotypes showed significant difference(P < 0.01). CONCLUSION: The A17860G located in 3'flanking sequence of HOXC5 gene is associated with simple CHD; the risk of CHD in the persons with G17860 is higher than that in those with A17860. the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD.

Adolescent↗

Assessment of intestinal and cardiorespiratory function in children with congenital heart disease on high-caloric formulas.

Fourteen infants with congenital heart disease were investigated for failure to thrive. Assessment of intestinal function revealed minor absorptive abnormalities (mild steatorrhea in three patients, bile salt loss in four patients), delayed gastric emptying, and abnormal triglyceride loading tests. Low caloric intake (88.3 +/- 19.3 kcal/kg/day) seemed the main reason for failure to gain weight. Weight accession and cardiorespiratory rates were monitored daily during voluntary intake, a high-caloric diet by mouth, and nasogastric tube feeding. Providing 169 +/- 29 kcal/kg/day by tube resulted in weight gain with mild and transient elevation of respiratory rate at the end of the meal and increased heart rate 90 min after the meal. This regimen is a metabolically inexpensive and efficient method of supporting weight gain in children with congenital heart disease.

Age Factors↗

Mechanism and therapy of cardiac arrhythmias in adults with congenital heart disease.

Over the past few decades, surgical advances have helped to prolong the lives of many young patients with congenital heart disease (CHD). However, as these patients reach adulthood, they are at risk for many late sequelae of their disease or of their corrective surgery. One of the unique challenges associated with CHD is the high incidence of cardiac arrhythmias that arise from the myocardial substrate created by abnormal pressure/volume changes, septal patches, and suture lines. Medical therapy has proven to be disappointing in treating a majority of these cases. Nonetheless, radiofrequency catheter ablation (RFA), an effective tool in treating atrial and ventricular arrhythmias in structurally normal hearts, has been used to treat arrhythmias in adults with congenital heart disease. This review will discuss some of the common congenital heart diseases in adults and the arrhythmias associated with them, as well as the therapeutic modalities used to treat them. Finally, it will present Mount Sinai Hospital's experience in using RFA for the management of cardiac arrhythmias in adults with congenital heart disease.

Adult↗

Arrhythmias in Congenital Heart Disease.

Improvements in surgical and medical treatment have led to improved survival of infants with congenital heart disease. Coincident with this improved survival has been an increase in the number of patients with congenital heart disease and arrhythmia. Arrhythmias in this population can be life threatening but are more commonly life altering, creating considerable patient distress--both from the symptoms of the arrhythmia and from fear of paroxysmal events. Arrhythmia in the setting of congenital heart disease can result from hemodynamic compromise and can in turn result in more hemodynamic compromise, creating a cycle of clinical deterioration. Aggressive treatment of arrhythmia and aggressive evaluation for surgically correctable hemodynamic burdens is therefore warranted. Treatment options for arrhythmia in patients with congenital heart disease include pharmacologic therapy, catheter intervention, implantable device therapy, and surgical intervention. Pharmacologic therapy is currently the primary mode of treatment of arrhythmia in this setting; however, data from large trials of patients with ischemic or dilated cardiomyopathy suggest that many antiarrhythmic agents may increase overall mortality rates in certain patient groups. In addition, pharmacologic therapy is associated with significant short- and long-term side effects, relatively low success rates, and problems with compliance. For these reasons and because of recent advances in catheter and device therapy, nonpharmacologic therapy should be considered in lieu of medication, whenever possible.

Journal Article↗

Evaluation of congenital heart disease by magnetic resonance imaging.

Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time.

Aortic Coarctation↗

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

UNLABELLED: 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.

Abnormalities, Multiple↗

Magnetic resonance imaging in the evaluation of congenital heart disease.

Magnetic resonance imaging is a powerful tool for studying patients with congenital heart disease. Its phenomenal contrast resolution, improved spatial resolution, and large field-of-view allow for graphic depiction of a wide array of congenital defects. Although this method was originally handicapped by the time it took to perform an exam and by poor image quality, advances in hardware and software coupled with attention to technique have led to a reliable diagnostic imaging modality. Although the technology is still evolving, it is not unreasonable to hope that the noninvasive imaging modalities of magnetic resonance and echocardiography will ultimately replace angiography in the evaluation of congenital heart disease.

Heart↗

Congenital heart disease in a cohort of 19,502 births with long-term follow-up.

The Child Health and Development Studies are longitudinal studies of pregnancy and the normal and abnormal development of the offspring. Women who were membres of the Kaiser Foundation Health Plan entered the study in early pregnancy, and their children were examined frequently until the youngest child in the study was 5 years old. This is a more intensive follow-up than hitherto reported. Of the 19,044 live-born children, 163 had definite and another 31 had possible congenital heart disease; the crude incidence rates per 1,000 live births were 8.8 for definite congenital heart disease and 10.4 for definite plus possible congenital heart disease. The incidence rate of congenital heart disease was 7.9 percent among all stillborn fetuses subjected to autopsy and 10.2 percent among those in this group with autopsies evaluated as being detailed enough to detect heart disease. Among the live-born children with congenital heart disease, 21 died in the neonatal period and 22 died in later infancy and childhood; about half the deaths were judged to have been due to heart disease. About 30 percent of the children with congenital heart disease had associated severe anomalies of other systems. In the whole cohort, 50 children had diagnosed chromosomal abnormalities (2.63/1,000 live births) and about 30 percent of them had congenital heart disease. Among the group of 163 children with definite congenital heart disease, the diagnosis was made in 46 percent by age 1 week, in 88.3 percent by age 1 year and 98.8 percent by age 4 years.

Abnormalities, Multiple↗

Conflicting responses: the experiences of fathers of infants diagnosed with severe congenital heart disease.

PURPOSE: To explore the experiences of fathers of infants newly diagnosed with severe congenital heart disease. DESIGN: An analysis of qualitative data collected as part of a larger longitudinal study of parenting the medically fragile infant. PARTICIPANTS: Eight fathers whose infants were hospitalized for severe congenital heart disease, were technology dependent at time of enrollment, and were expected to have serious chronic health problems at discharge. DATA COLLECTION MEASURES: Semistructured interviews in the hospital and the home until the child reached 15 months adjusted age. RESULTS: Findings indicate that fathers experience four interrelated conflicting reactions: the joy of seeing the child born and becoming a father, plus the sadness and loss associated with the baby's illness; the challenge of becoming attached while dealing with fears about the infant's vulnerability and potential death; the need to try to maintain control while feeling a loss of control; and the struggle to remain strong for others while hiding their intense emotions. These findings extend the previous limited research about fathers by identifying the unique conflicts fathers of seriously ill infants experience in coping with the child's diagnosis and treatment. Findings have implications for intervening with fathers during the early diagnostic phase of a serious illness, particularly serious congenital heart disease.

Adaptation, Psychological↗

Sexual functioning and congenital heart disease: Something to worry about?

BACKGROUND: Although sexual problems in cardiac patients are receiving increasing attention, research on sexual functioning of patients with congenital heart disease is very scarce. Therefore, this study investigated sexual functioning in adults with congenital heart disease and compared this with that of matched, healthy control subjects. METHODS: A descriptive, comparative study was conducted, in which 441 adults with congenital heart disease were matched to 441 healthy counterparts, according to age, gender, and marital status. The sample consisted of 53.5% males. Median age was 24 years. Disease-specific determinants of quality of life were assessed using the CHD-TAAQOL. This 77-item instrument includes five items referring to sexual problems. For each item, both the perceived frequency and the associated distress were scored. RESULTS: Sexual problems were perceived by 10% to 20% of the patients. When these problems occurred, they were distressing in 67% to 88% of the patients. Female patients reported significantly more often 'not enjoying having sex', 'being insecure about having sex', and 'not being aroused while having sex', and experienced more distress at 'being insecure about having sex' than male patients. Congenital heart disease patients reported significantly fewer 'not enjoying having sex' and 'worrying about your sex life' than healthy counterparts, but experienced more distress at 'worrying about your sex life'. CONCLUSION: In this study, we found that only a minority of adults with congenital heart disease reported sexual problems. This suggests that sexual functioning in this group of patients is not as problematic as in some other cardiac populations.

Adolescent↗

Laryngeal web, congenital heart disease and low stature. A syndrome?

Congenital laryngeal web, congenital heart disease, and low stature occurred in a 23-year-old woman. The patient was a member of a family in which several members were similarly affected. This triad of congenital anomalies is a syndrome that has not been previously reported. The pattern of inheritance of this syndrome is compatible with an autosomal dominant gene.

Adult↗

Fetal Doppler echocardiographic assessment of cardiac blood flow velocity in normal fetuses and in those with congenital heart disease.

Ninety fetal Doppler echocardiographic examinations were performed on 72 normal fetuses and 5 with congenital heart disease [2 pulmonary stenosis (PS), 1 pulmonary atresia (PA), 1 tetralogy of Fallot (TOF) and 1 endocardial cushion defect (ECD)] at 16 to 40 weeks of gestational age. The maximum transmitral (MVMax), transtricuspid (TVMax), transaortic (AVMax) and transpulmonary blood flow velocity waveforms (PVMax) were assessed. The detection rates for MVMax, TVMax, AVMax and PVMax in normal fetuses were 69.4%, 68.2%, 77.6% and 43.5%, respectively. MVMax, TVMax, AVMax and PVMax correlated well with gestational age, in the normal fetuses. However, there was no correlation between MVMax, TVMax, AVMax, PVMax and heart rate, in the normal fetuses, respectively. The TVMax/MVMax ratio was one and over in 53 of 55 normal fetuses (96.4%), and the PVMax/AVMax ratio was one and over in 11 of 25 normal fetuses (44%). In cases of PS, the TVMax was relatively low, but the PVMax was definitely high. The TVMax/MVMax ratios in cases of PS were 0.8 and 1.0, respectively. AVMax in a fetus with TOF was definitely low and markedly decreased in the case of ECD. Therefore, fetal Doppler echocardiography is a pertinent diagnostic tool which can be used to analyze cardiac hemodynamics in all fetuses, in utero.

Blood Flow Velocity↗

[Prevalence of hyperechoic renal pyramid syndrome in neonates and infants with congenital heart disease--ultrasound study of the abdominal cavity in the years 1996-2000].

UNLABELLED: The normal medullary pyramids both in children and in adults are non-echoic on ultrasound evaluation when compared with renal cortex. Hyperechoic pyramids are associated with abnormal function of renal tubules. This sonographic finding has been described in various diseases including transient renal insufficiency in neonates and hypercalciuria induced by long-term furosemide therapy. The aim of this study was to evaluate the occurrence of hyperechoic pyramids in neonates and infants with congenital heart diseases. MATERIAL AND METHODS: The examined population consisted of 350 neonates and infants (187 male - 53%, 163 female - 47%), mean age 54,9 +/- 75,7 days (range 1 - 349 days) with new recognized congenital heart disease. All renal sonographic evaluations were performed from January 1st 1996 to December 31st 2000. RESULTS: A total of 19 (5.5%) neonates had increased echogenicity of the renal medullary pyramids. Almost 2/3 of cases were diagnosed in neonates with cyanotic congenital heart diseases. In infants with congenital heart disease hyperechoic pyramids were found in 5 (1.4%) cases. CONCLUSIONS: 1. In our study was shown, that the main reason of hyperechoic pyramids syndrome was neonatal asphyxia in association with cyanotic congenital heart disease. 2. Further nephrological evaluation is necessary in all case of hyperechoic pyramids syndrome. 3. Ultrasound examination of urinary tract should be an integral part of a complex evaluation of a patient with congenital heart disease.

Female↗