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At least 343 records · Page 19Linked to original sources
PubMed2003

Intravenous indomethacin therapy in infants with a patent ductus arteriosus complicating other congenital heart defects.

In the present study, 0.2-0.6 mg/kg (0.4+/-0.2, mean +/- standard deviation) indomethacin was administered intravenously to close a patent ductus arteriosus in 13 infants with co-existing congenital heart defects whose ages ranged from 3 to 48 (14+/-14) days. All of them were hemodynamically ductus-independent and symptomatic. Echocardiography demonstrated that the ductus had closed in 8 infants, aged 3-33 (12+/-10) days (responders), but had not closed in 5 infants aged 6-48 (19 +/-19) days (non-responders). There was no significant difference between the responders and non-responders in their age, body weight, minimal diameter of the duct, dose of indomethacin, gestational age, birthweight, or Apgar score. One possible major complication might be associated with indomethacin. However, intravenous indomethacin should be considered prior to surgical ligation as one option for infants with a symptomatic patent ductus arteriosus complicated by other congenital heart defects.

Cardiovascular Agents↗
PubMed1993

Early ultrasound diagnosis of fetal congenital heart defects in high-risk and low-risk pregnancies.

OBJECTIVE: To evaluate the yield of early second-trimester transvaginal ultrasonography in the detection of congenital heart defects among patients with low or high risk for fetal anomalies. METHODS: During 5 years, we performed 12,793 transvaginal ultrasound examinations at 12-16 weeks' gestation, targeted for detection of fetal congenital anomalies. Three thousand four hundred fifty-three (27%) of these patients were considered to be at high risk for fetal congenital heart defects (because of family or medical history or teratogen exposure). The other 9340 patients were considered to be at low risk for fetal anomalies. The four-chamber view and the outflow tracts were evaluated systematically in all patients. RESULTS: Congenital heart malformations were observed in 47 cases, most of which (29 of 47) were diagnosed in the low-risk group. Additional extracardiac malformations were observed in 29 (62%) of the affected fetuses. Ten of 28 affected pregnancies that were karyotyped (36%) had abnormal chromosomes. Use of the four-chamber view alone would have failed to detect 11 (23%) of the abnormal fetuses. CONCLUSIONS: Transvaginal ultrasonography in the early second trimester is a useful tool for the detection of fetal cardiac structural defects, provided that both the four-chamber view and the outflow tracts are evaluated. When such an anomaly is suspected, additional fetal malformations should be sought and fetal karyotype should be determined.

Chromosome Aberrations↗
PubMed2001

Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations.

Using genotype analysis and multiplex quantitative polymerase chain reaction (PCR), chromosome 22q11 deletions were examined in 252 patients with syndromic or isolated conotruncal heart defect. Of these patients, 19 (7.5%) were found to be hemizygous for chromosome 22q11. Parental origin of the deleted chromosome was determined in 16 cases: one patient (6.3%) inherited a deleted chromosome 22 from his mother; all the others (93.7%) consisted of de novo mutations. One-third (5/15) of the de novo 22q11 deletions were of paternal origin and the remainder derived maternally. These results lend further support to our current knowledge of chromosome 22q11 microdeletion syndromes and their implications for the genetic counseling of individuals diagnosed with conotruncal heart defects. Possible mechanisms for gender-biased parental origin are discussed.

Adolescent↗
PubMed1989

[A double-blind randomized comparative study of iopromide and amidotrizoate in the angiocardiography of infants and young children with congenital heart defects].

For 50 sucklings and small infants with cyanotic and acyanotic heart defects the non-ionic contrast medium Iopromide was tested against the ionic contrast medium Amidotrizoate in angiography. With consideration to the applied method the tested cardiospecific enzymes (CK MB, alpha-HBDH, lactate) as well as hematocrit, oxygen content of central venous blood, heart rate, systolic pressures in both ventricles and ECG showed no significant differences. The different end-diastolic pressures in both ventricles and the average pressure in the right atrium, however, showed the cardiotoxicity of Amidotrizoate. Conclusively the use of Iopromide is demanded for infants, small infants and sucklings.

Angiocardiography↗
PubMed2005

Minimal access via lower partial sternotomy for congenital heart defects.

To evaluate the invasiveness of a minimal access approach for simple congenital heart defects, and determine whether it can be regarded as a standard operation, 83 patients with an atrial septal defect and 73 with a ventricular septal defect underwent repair through a minimal skin incision and lower partial median sternotomy. There were no operative deaths, severe intraoperative complications, or conversion to full sternotomy. The clinical course of 106 patients was compared with that of 21 treated using a full sternotomy by the same surgeon; there were no significant differences, except in the operative time for ASD patients. The clinical courses of 2 minimal access subgroups (50 patients operated on by residents and 106 treated by the staff surgeon were compared; operative time, bypass time, ventricular fibrillation time (ASD repair), and cardiac arrest time (VSD repair) were significantly shorter in those operated on by the staff surgeon, but there was no difference in clinical course. The minimal access approach produced good cosmetic results, its invasiveness was similar to that of a full sternotomy, and it may be considered a standard operation for pediatric patients with septal defects.

Adolescent↗
PubMed2000

[The most frequent congenital heart defects in the adult population and their echocardiographic diagnosis].

The congential heart disease (CHD) occur inabout 6% of all live newborn infants. About 77% of children with CHD live to adulthood. The number of adult patients with CHD increases owing to thedevelopment of cadiology, improved possibilities of non-invasive diagnostic methods with use of echocardiography and esophageal echocardiography. The clinic for adult patients with congenital heart defects at the Faculty Hospital in Motol registers 1,100 patients. The most frequent anomalites include atrial septal defects (26%), ventircular septal defects (21%), aortic coarctation (15%) and Fallot's tetralogy (8%). Complex cyanotic CHD represent the total of 7% of patients, as well as the congenital aortic stenosis or incompetence (7%) and pulmonary stenosis (7%).

Adult↗
PubMed2005

Spectrum of middle and inner ear abnormalities in infants with congenital heart defects.

OBJECTIVE: To evaluate temporal bone histopathology in infants with congenital heart defects (CHD). STUDY DESIGN AND SETTING: A retrospective review of our temporal bone collection was conducted to identify temporal bones acquired from infants with CHD. Subjects were divided into nonsyndromic and syndromic CHD groups. The presence of temporal bone abnormalities and the incidence of abnormalities that may result in hearing impairment were determined. RESULTS: Thirty-eight temporal bones obtained from 16 infants with nonsyndromic CHD and 4 with syndromic CHD were evaluated. Nonsyndromic CHD cases had abnormalities such as a mesenchymal remnant, malformed stapes, persistent stapedial artery, shallow round window, dehiscent facial nerve canal, short cochlea, strial basophilic deposits, deformity of the spiral ligament, bulging Reissner's membrane, hypoplastic lateral semicircular canal, and cupular deposits. Syndromic CHD cases had abnormalities including narrow round window niche, facial canal dehiscence, strial basophilic deposits and cysts, and outer hair cell loss. Middle and inner ear abnormalities that may impair hearing were observed in 6 subjects with nonsyndromic CHD and in 1 subject with syndromic CHD. CONCLUSIONS: A wide variety of temporal bone defects were documented in infants with CHD. Congenital middle and inner ear abnormalities should be anticipated in the hearing assessment and otologic surgery of infants with CHD.

Abnormalities, Multiple↗
PubMed1998

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.

Previous studies have indicated a wide spectrum of incidences of 22q11.2 deletions in isolated and syndromic (sporadic or familial) cases of conotruncal heart defects, whereby the detection rate of the deletion varied from 65% in one study to 0 in another. We analysed 110 patients with non-selective syndromic or isolated non-familial congenital heart malformations by fluorescence in situ hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five were of maternal origin and four of paternal origin. None of the 59 patients with isolated congenital cardiac defect had a 22q11.2 deletion. We compared the cardiac anomalies of our patients with a 22q11.2 deletion with those of previously published series and we describe types of congenital heart defects which appear to be often associated with a 22q11.2 deletion. The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGeorge/velo-cardio-facial syndrome (DG/VCFS).

Adolescent↗
PubMed1994

BERTE--a database for children with congenital heart defects.

To secure the follow-up of children with congenital heart defects in Norway the Dept. of Pediatric Cardiology has developed a tailor-made database. This also simplifies the regular flow of information about these patients both inside the hospital and between the hospital and the others who are in charge of the patient care on various levels.

Child↗
PubMedDate not supplied

The embryology of congenital heart defects.

The embryological development of the heart is an awesome and complex process. The heart is formed from groups of cells that coalesce into sheets of tissue. These sheets fuse to form a tube that grows into the atria and ventricles. The twists and turns of the developing heart tissue and the simultaneous septation of atria, ventricles, and truncus, along with a shifting of the atrioventricular canal and conus then position the portions of the heart in alignment to allow normal blood flow. Errors at any stage of embryological formation can result in specific congenital defects. Understanding the development of the heart in utero can provide the pediatric nurse a basis for understanding the physiological effects of embryological failures that result in congenital heart defects in the infant and child.

Embryonic and Fetal Development↗
PubMed1987

Familial risks of congenital heart defect assessed in a population-based epidemiologic study.

Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic exposures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population-based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore-Washington area. The rates of CHD were defined for first-degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Precurrence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.

District of Columbia↗
PubMed2004

Congenital heart defects in Central Australia.

OBJECTIVE: To determine the incidence of congenital heart defects (CHD) in Aboriginal and non-Aboriginal infants in Central Australia and to compare this with the incidence elsewhere in Australia. DESIGN AND SETTING: Data on cases were obtained from patient records of the Alice Springs Hospital, Central Australia, the sole referral centre for paediatric and initial cardiac diagnostic services for the region. PARTICIPANTS: Patients with CHD proven by echocardiography reported between 1 January 1993 and 30 June 2000. MAIN OUTCOME MEASURES: Incidence of CHD using all live births in Central Australia as the denominator. RESULTS: 108 patients with CHD were detected among 6156 live births (incidence, 17.5 per 1000; 95% CI, 14.9-21.7 per 1000); 57 of 2991 were Aboriginal (19.0 per 1000; 95% CI, 14.4-24.6 per 1000) and 51 of 3165 were non-Aboriginal (16.1 per 1000; 95% CI, 12.0-21.1 per 1000). The difference between the two groups was not statistically significant (relative risk, 1.18; 95% CI, 0.81-1.72). CHD incidence in Central Australia was significantly higher than that reported for other parts of Australia (4.3 per 1000 live births in New South Wales and the Australian Capital Territory, 1981-1984; 7.65 and 12 per 1000 total births in Western Australia, 1980-1989, and South Australia, 1993-2000, respectively). CONCLUSIONS: The high rates of CHD in Central Australia may partly reflect the high utilisation of echocardiography for assessing minor lesions. However, the incidence of both major and minor types of CHD was significantly higher than previously reported from other regions of Australia. The role of socioenvironmental factors in this high incidence should be explored.

Australia↗
PubMed2006

[Peculiarities of distribution of catecholamines in the myocardium of patients with congenital heart defects.].

Catecholamines and intracardiac hemodynamics were studied in 37 patients with congenital heart defects. Clinical investigation confirmed importance of assessment of functional state of myocardium based on information, obtained by measurement of catecholamines in the heart. Concentration of catecholamines among various nosological was affected by perfusion and hypoxia of myocardium as well as forms of hyperfunction of cardiac muscle.

Catecholamines↗
PubMedDate not supplied

Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect.

PURPOSE: The incidence of 22q11.2 deletion syndrome is approximately 1 in 5,000 births, and accounts for 5-30% of all heart defects, making it one of the more common genetic conditions in the population. METHODS: We employed fluorescence in situ hybridization (FISH) to study the incidence of 22q11.2 deletions in fetuses with cardiac anomalies detected on ultrasound examination. RESULTS: Of 64 cases, 18 had visible chromosome anomalies. FISH testing for 22q11.2 deletion was performed on the remaining 46 cases, and five exhibited a 22q11.2 deletion. Three of the five had de novo deletions, one was maternally inherited, and one family declined testing. CONCLUSION: FISH analysis for 22q11.2 deletion should be performed on all fetuses with cardiac defects (excluding hypoplastic left heart and echogenic focus) and a normal G-banded karyotype.

Chromosome Aberrations↗