Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Heart defects”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 199 records · Page 11Linked to original sources
PubMed1999

Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study.

OBJECTIVE: To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. MATERIAL: Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. RESULTS: Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). CONCLUSIONS: Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy.

Abortion, Spontaneous↗
PubMed2002

Nutrient intake and congenital heart defects in maternal phenylketonuria.

OBJECTIVE: The purpose of this study was to determine whether nutritional components other than high maternal blood phenylalanine levels (> or = 10 mg/dL) are associated with congenital heart defects in the offspring of women with hyperphenylalaninemia. STUDY DESIGN: Of the 414 subjects who had live births, 249 women (60.1%) started diet treatment before 8 weeks of gestation and had nutritional assessments and infant outcome data. Maternal phenylalanine levels, protein intake, and the incidence of congenital heart defects were determined. Simple contingency table analysis was done by chi(2) and Fisher exact test. RESULTS: A significantly increased incidence of congenital heart defects was observed in offspring of mothers with hyperphenylalaninemia who had an elevated blood phenylalanine level >10 mg/dL at 0 to 8 weeks of gestation and a protein intake of < or = 50% of the recommended dietary allowance (P <.0013). CONCLUSION: An inadequate intake of protein during pregnancy in conjunction with elevated blood phenylalanine levels appear to have an additive effect in the incidence of congenital heart defects in the offspring of women with hyperphenylalaninemia.

Dietary Proteins↗
PubMed2001

Ministernotomy versus full sternotomy in congenital heart defects: a prospective randomized study.

BACKGROUND: Although the ministernotomy is extensively used in the repair of congenital heart defects all over the world, whether this approach has additional advantages over the conventional full sternotomy is not well established. This prospective study was designed to evaluate the effects of lower ministernotomy in the repair of congenital heart defects. METHODS: One hundred patients who underwent repair of atrial or ventricular septal defects were randomly divided into two groups: lower ministernotomy group (n = 50), and full sternotomy group (n = 50). The clinical indexes of each procedure were recorded and analyzed. RESULTS: The age, sex, and types of cardiac defects were comparable between the two groups. Ischemic times, bypass times, intensive care unit stay, and ventilation duration were similar in both groups. The procedure time (from skin to skin) was longer in the lower ministernotomy group than in the full sternotomy group (p < 0.001). There was less drainage in the lower ministernotomy group than in the full sternotomy group for the first 24 hours after operation (186 +/- 99 mL/m2 versus 237 +/- 134 mL/m2, p = 0.03) but no significant difference in transfusions between the two groups. The hospital stay was shorter in the lower ministernotomy group than in the full sternotomy group (6.5 +/- 1.2 days versus 7.5 +/- 1.8 days, p = 0.02). CONCLUSIONS: Ministernotomy is as safe and effective as a full sternotomy in the repair of simple congenital heart defects in older children and adults. Furthermore, this small incision reduces the postoperative drainage, shortens hospital stay, and provides better cosmetic results. Operative times are longer.

Adolescent↗
PubMed1994

Use of ATP-MgCl2 in the evaluation and treatment of children with pulmonary hypertension secondary to congenital heart defects.

BACKGROUND: Pulmonary hypertension results in increased morbidity and mortality in children after surgical repair of congenital heart defects. Various vasodilators have been unsuccessful in providing preferential pulmonary vasodilation in these patients. Identification of a more preferential pulmonary vasodilator would improve the assessment, management, and outcome of these children. To determine whether ATP-MgCl2 is a preferential pulmonary vasodilator in children with pulmonary hypertension secondary to congenital heart defects, ATP-MgCl2 was administered during routine cardiac catheterization, and the effects were compared with tolazoline. In addition, ATP-MgCl2 was infused intravenously during episodes of postoperative pulmonary hypertension. METHODS AND RESULTS: During cardiac catheterization in 28 children, the effect of ATP-MgCl2 on the pulmonary artery pressure (PAP) and pulmonary vascular resistance index (Rp) was compared with tolazoline. ATP-MgCl2 (0.1 mg of ATP per kilogram per minute) decreased mean PAP by 24% (P < .05) and Rp by 47% (P < .05) without changing mean systemic arterial pressure or systemic vascular resistance. These effects were comparable to those of tolazoline (1 mg/kg). ATP-MgCl2 produced no significant side effects; tolazoline caused tachycardia, nausea, and vomiting. After cardiac surgery in 7 patients, ATP-MgCl2 decreased PAP by 14% (P < .05) and systemic arterial pressure by 6% (P < .05) and eliminated pulmonary hypertensive crises in 3 of 3 patients. CONCLUSIONS: ATP-MgCl2 is a safe, effective, and preferential pulmonary vasodilator in children with pulmonary hypertension secondary to congenital heart defects. It is useful for evaluating pulmonary vasoreactivity during cardiac catheterization and for treating pulmonary hypertension after cardiac surgery.

Adenosine Triphosphate↗
PubMed1989

[Morphological indicators of CNS changes in cyanotic and non-cyanotic congenital heart defects in the developmental age. Nerve cells and their processes studied by staining, impregnation and electron microscopy.I. Development of dendrites studied by the Golgi method].

Morphometric evaluation of cortical neurons in children with congenital heart defect of cyanotic and non-cyanotic++ type was performed. Investigations based on autopsied material included three age groups of 6, 12 and 24 months respectively in both of the two groups with heart defect and in the control group. Formalin-fixed samples taken from frontal, parietal, occipital and temporal cortex were embedded in celoidin and slices were impregnated according to the Golgi procedure. The development of dendrites was estimated using three different and independent morphometric methods. The results were statistically analysed to reveal a putative mutual dependence between the type of disease, age and localization in cerebral hemispheres and development of dendrites. The study disclosed significant differences in the dendritic tree in relation to the heart defect, especially that of cyanotic type as compared with the control group. A comparison between the groups with the heart defect and the control disclosed significant differences in the dendritic tree. The most remarkable difference was noted in the group of cyanotic heart disease in which the development of the dendritic tree was markedly retarded. No differences between particular localizations in cerebral hemispheres have been found. The validity of Golgi method for investigation of neuron structure was emphasized.

Age Factors↗
PubMed2001

Association between electroencephalographic findings and neurologic status in infants with congenital heart defects.

Neurologic status is of concern in infants with congenital heart defects undergoing open heart surgery. The association between perioperative electroencephalography (EEG) with acute neurologic status and subsequent outcome was examined in a cohort of 60 infants. Preoperative EEG and neurologic examinations were performed within 1 to 2 days prior to surgery (n = 27) and postoperatively (n = 47). Prior to surgery, 15 of 27 infants had normal EEG, whereas 5 had epileptiform activity and 9 had disturbances in background activity that were primarily moderate (8/9) and diffuse (7/9). Postoperatively, only 17 of 47 infants had normal recordings. Newborns (<1 month) were more likely (P< .001) to demonstrate EEG abnormalities than infants. Epileptiform activity was documented in 15, whereas 28 had background abnormalities that were moderate-severe (22/28) and diffuse (20/28) in most. Epileptiform activity prior to surgery was always associated with an abnormal neurologic examination, and this association persisted postoperatively (86%). Moderate to severe background abnormalities in the postoperative EEG was also strongly associated with acute neurologic abnormalities (93%). Severe background abnormalities (n = 5) were 100% predictive of death or severe disability. Long-term follow-up revealed that all children with normal postoperative EEGs had positive neurologic outcomes (P = .04); however, there were many false positives. Perioperative EEG abnormalities increased the likelihood for acute neurologic findings, whereas normal recordings following surgery were reassuring with regard to a favorable outcome.

Cardiovascular Surgical Procedures↗
PubMed2005

Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage.

Key research findings relative to the question of whether maternal use of folic acid before and during pregnancy reduces the chance that offspring will be born with a congenital heart defect or an orofacial cleft are reviewed in this paper. Observational studies in general support an association between maternal use of multivitamins containing folic acid and a reduction in the occurrence of congenital heart defects and orofacial clefts. Results from one randomized controlled trial (RCT) provide the strongest evidence that multivitamins prevent congenital heart defects, but this RCT did not provide evidence that multivitamins prevent orofacial clefts. In addition, most observational and interventional studies are not designed to detect an independent effect from folic acid. Early studies suggested that periconceptional multivitamin use was associated with an increased occurrence of both miscarriages and multiple births, which has resulted in a great deal of controversy about the safety of folic acid use during pregnancy. We also review reports that were designed to answer these questions with more definitive data. When more substantial evidence about the effect of periconceptional folic acid on the occurrence of congenital heart defects and orofacial clefts is reported, we will have additional support for promoting folic acid intervention programs. All women capable of becoming pregnant should continue to consume 400 mug/d of folic acid in addition to a healthy diet as advised.

Abortion, Spontaneous↗
PubMed1998

Plasma endothelin 1 concentrations in children with congenital heart defects.

BACKGROUND: To investigate the changes in plasma endothelin-1 (ET-1) concentrations in patients with congenital heart defects. METHODS: Plasma ET-1 concentrations were measured by using radio-immunoassay in 50 patients in a prospective study. In 35 patients with ventricular septal defect, 20 cases had pulmonary hypertension (group 1) and 15 cases had normal pulmonary artery pressure (group 2). The other 15 patients with atrial septal defect had normal pulmonary artery pressure (group 3). Blood samples were obtained from pulmonary artery, aorta and radial artery. RESULTS: Plasma ET-1 concentration in group 1 was significantly higher than those in group 2 and group 3 at all sampling sites and all different times (p < 0.01), and plasma ET-1 concentration was slightly higher in group 3 than in group 2 (p > 0.05). Plasma ET-1 concentration at aorta were also significantly higher than that at pulmonary artery in group 1 (p < 0.01). In patients with ventricular septal detect, pulmonary blood flow had a linear positive correlation with plasma ET-1 concentration (r = 0.75, p < 0.01) and there was also a significant positive correlation between plasma ET-1 concentration and pulmonary artery pressure (r = 0.68, p < 0.05). After surgical repair of the defects, plasma ET-1 concentration decreased except for 6 cases with the pulmonary resistance more than 800 dyne.sec.cm-5. CONCLUSIONS: Plasma ET-1 concentrations are elevated in patients with congenital heart defect associated with left-to-right shunt and may have an important role in the pathogenesis of pulmonary hypertension.

Child↗
PubMed2002

Intraoperative transesophageal echocardiography during surgery for congenital heart defects.

OBJECTIVE: This study was undertaken to further define the impact of intraoperative transesophageal echocardiography during surgery for congenital heart disease and to determine appropriate indications. METHODS: The impact of transesophageal echocardiography on patient care was assessed in 1002 patients who underwent this procedure during surgery for congenital heart defects. It had major impact when new information altered the planned procedure or led to a revision of the initial repair. The safety of intraoperative transesophageal echocardiography was evaluated by review of the prospective data sheets and the medical record. A simple relative cost analysis was also performed. RESULTS: Patient median age was 9.9 years (range 2 days to 85 years). Transesophageal echocardiography had prebypass or postbypass major impact in 13.8% of cases (n = 138/1002). Major impact was more frequent during reoperations (P <.03). Procedures that benefited most from the additional information were valve repairs (aortic or atrioventricular) and complex outflow tract reconstructions. Partial anomalous pulmonary venous connection, tricuspid valve repair (other than of Ebstein anomaly), simple atrioventricular discordance, aortic arch anomalies, and secundum atrial septal defects had major impact rates less than 5%. No major complications occurred. Minor complications occurred in 1% of patients and were most often observed in infants smaller than 4 kg. Routine use of transesophageal echocardiography for all patients with congenital heart defects proved cost-effective. CONCLUSIONS: On the combined basis of the observed rates of major impact, the minimal complications, and the relative cost advantage, we believe that routine use of transesophageal echocardiography during most intracardiac repairs of congenital heart defects is justified, particularly for patients undergoing repeat operations for congenital cardiac malformations.

Child↗
PubMed2002

Hypoparathyroidism in conotruncal heart defects.

UNLABELLED: This retrospective study was designed to evaluate serum levels of intact parathyroid hormone and calcium in patients with conotruncal heart defects with or without microdeletion 22q11.2 in order to investigate a correlation between various types of conotruncal heart defect and hypoparathyroidism. A total of 67 patients with truncus arteriosus, tetralogy of Fallot, pulmonary atresia and ventricular septal defect, interrupted aortic arch or vascular ring were included of whom 28 had a 22q11.2 deletion (Group I) and 39 did not (Group II). In two patients of Group I and in one patient of Group II, parathyroid hormone level was decreased with normal serum calcium levels. No patient of Group II showed hypocalcaemia. In Group I, complete hypoparathyroidism with low parathyroid hormone and hypocalcaemia occurred in seven patients; 5 patients had bilateral anomalies of the right and the left 4th aortic arch derivates. In addition to an interrupted aortic arch type B or a high aortic arch, the contralateral subclavian artery arose cervically, high thoracically or anomalously from the descending aorta. Two patients had unilateral anomalies of the 4th aortic arch system: The origin of the right subclavian artery was cervical or from the descending aorta. CONCLUSION: Hypoparathyroidism occurred in 7 of our 28 patients with conotruncal heart defect and monosomy 22q11.2 and was associated with an extended regression of the 4th aortic arch development on both sides of the aortic arch system.

Adolescent↗
PubMedDate not supplied

[Percutaneous treatment of multiple heart defects].

We describe our experience in 6 cases with multiple congenital heart defects treated by percutaneous intervention. Their age ranged from 2.3 to 10 years (mean 6.1), with follow-up from 1 to 84 months (mean 28.8). Two cases had coarctation of the aorta (AC) and persistent ductus arteriosus (PDA). Two patients had pulmonary valve stenosis (PVS) and PDA, one case with aortic stenosis (AE) and PDA and one case with AC, mitral stenosis and subaortic stenosis (Shone's Syndrome). Ductus arteriosus was occluded in all patients with Gianturco coils or Rashkind occluder. The valvular gradient post balloon decreased in cases with AC from 46 to 9 mmHg, with PVS from 110 to 10 mmHg and with AE from 40 to 14 mmHg. In a 8 year old boy with Shone's syndrome, we performed angioplasty of aortic coarctation, mitral valvuloplasty with Inoue catheter. He was referred to surgery for subaortic repair stenosis. All are asymptomatic at follow-up. In conclusion; percutaneous intervention is possible in patients with multiple congenital heart defects.

Aortic Coarctation↗
PubMedDate not supplied

Chromosome 22q11 deletions in patients with conotruncal heart defects.

We performed this study to determine the frequency of 22q11 deletions and associated phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with conotruncal heart defects, including tetralogy of Fallot (TOF; n = 32), pulmonary atresia/ventricular septal defect (PAVSD; n = 12), double-outlet right ventricle (DORV; n = 5), transposition of the great arteries (TGA; n = 4 ), truncus arteriosus (TA; n = 4), subpulmonary ventricular septal defect (SPVSD; n = 3), and interrupted aortic arch (IAA; n = 1), were enrolled in this study and screened for 22q11 deletions by the fluorescence in situ hybridization technique. Phenotypic features and associated abnormalities, including submucosal cleft palate, abnormal facies, square nose, nasal voice, abnormal ears, long and slender fingers, delayed development, mental retardation, delayed growth, short stature, and hypocalcemia, were examined in these patients. Nine of 61 patients (14.8%) had 22q11 deletions, including 100% of IAA, 50% of TA, 33.3% of SPVSD, 33.3% of PAVSD, and 3.1% of TOF. Deletions were not detected in DORV and TGA. In all patients with 22q11 deletions, > or =1 phenotypic features or associated abnormalities were observed. A subgroup of patients with IAA, TA, SPVSD, and PAVSD associated with phenotypic features or abnormalities warrants evaluation for the presence of 22q11 deletions.

Abnormalities, Multiple↗
PubMed1999

Multimodality evoked potential findings in infants with congenital heart defects.

Evoked potentials are sensitive prognostic tools in young infants at risk for developmental disability. The objective of this prospective study was to determine whether infants with congenital heart defects demonstrate evoked potential abnormalities prior to or following open heart surgery, and to examine the association between these abnormalities and developmental status 1 year following surgery. A consecutive series of newborns (less than 1 month old) and infants (1 month to 2 years old) were recruited. Somatosensory and brain stem auditory evoked potentials were carried out before or after cardiac surgery, or both. One year later, neurologic examination and standardized measures of motor performance and functional independence were carried out. Twenty-seven newborns and 31 infants underwent perioperative somatosensory evoked potential recordings. Results indicate that perioperative somatosensory evoked potential abnormalities were common in newborns (41%) but not in infants (13%) with congenital heart defects. Brainstem conduction times were within normal limits in all subjects; however, 32% presented with mild elevations in hearing thresholds. All newborns with abnormal somatosensory evoked potentials had abnormal neurologic examinations both perioperatively and again 1 year after open heart surgery. Moreover, standardized developmental assessments 1 year following surgery indicate that all newborns with somatosensory evoked potential abnormalities had developmental deficits in one or more domains. Somatosensory evoked potential abnormalities in the perioperative period are common in newborns with congenital heart defects, and are strongly predictive of persistent developmental delay later.

Brain↗
PubMed2006

Detecting heart defects in newborn infants--innocent murmurs mixed with silent dangers.

UNLABELLED: Detection of severe heart defects without unnecessary delay is a primary task for providers of infant care. Screening is challenged by the fact that a normal physical examination after birth does not exclude severe defects. Shorter hospital stay for newborn infants and a reduced number of examinations may further hamper a successful mission. Reassuringly, most critical heart defects are reported to be identified early. CONCLUSION: Increased awareness of the limitations of screening and continued monitoring of detection rates, as well as studies on how they can be improved, are warranted.

Early Diagnosis↗
PubMed1993

[The pathomorphology of the higher autonomic centers in newborn infants with congenital heart defects].

Hypothalamic, bulbar and spinal autonomic centres in 25 newborns with congenital heart defects were pathomorphologically investigated in the early neonatal period compared to 25 fetuses without abnormalities. There was a decreased mass of the brain and retardation of the development of autonomic centres. Metric parameters of the brain stem and spinal parts are unchanged, this indicates the relative independence of the forming of telencephalon. Dyscirculation and dystrophy in the autonomic centres were infrequently high, they predominate in the cranial regions and interrelated and are not followed by marked compensatory processes. The impairment of morphogenesis and damages of vegetative centres decrease adaptative possibilities and partially cause the fatal outcome in early neonatal periods in newborns with heart defects.

Autonomic Nervous System↗
PubMed2003

Antioxidant status in newborns and infants suffering from congenital heart defects.

There is a common view that free radicals may play an important role in tissue damage resulting from circulatory insufficiency, cardiosurgery etc. There are very few data concerning the involvement of free radical reactions in the newborns and infants suffering from congenital heart defects (CHD). Antioxidant status was evaluated in 41 newborns and infants under 1 year of age, among them 23 suffering from CHD (14 with left-to-right shunt and 9 with cyanotic heart defect) and 18 healthy controls. The study based on the assessment of activities of antioxidant enzymes in blood (superoxide dismutase, catalase and glutathione peroxidase), levels of low molecular weight antioxidants (vitamin E, uric acid and selenium) and the concentration of malondialdehyde (MDA) as a marker of lipid peroxidation. All subjects had low blood selenium concentration as compared to the level considered as being adequate. Infants suffering from CHD had lower, as compared to healthy controls, plasma vitamin E concentration. The difference was significant in the case of acyanotic ones. The activities of superoxide dismutase and catalase in infants with CHD were not significantly different from the respective values recorded in healthy controls. The activity of glutathione peroxidase in whole blood was the lowest in infants with cyanotic heart defect in whom lipid peroxidation, as evaluated by MDA level, was the most enhanced. Significantly higher plasma concentration of uric acid which may be interpreted as a positive mechanism enabling better protection of red blood cells from peroxidative damage was found in this group of infants. It is concluded that enhanced oxidative stress due to imbalance between prooxidant and antioxidant reactions appears to be associated with congenital heart defect pathology in infants.

Analysis of Variance↗