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PubMed1986

[Experiences with 2-dimensional Doppler echocardiography in children with congenital and acquired heart defects].

In patients with congenital and acquired heart disease clinical applications of Two dimensional Doppler Echocardiography were discussed, and the literature was reviewed. Clinical applications and limitations in patients with congenital and acquired heart disease were discussed. Different views of the combined two-dimensional echo and pulsed wave Doppler transducer are proposed: The apical four chamber view was used to measure inflow velocities into both ventricles, the apical two chambers view to get signals from the left ventricular outflow tract (sometimes a suprasternal or a subxiphoidal approach was necessary). Right ventricular outflow was obtained from a short axis parasternal view. For the spectrum of the descending aorta a subxiphoidal cross sectional plane was used. The typical Doppler images for stenotic valves, regurgitations, shunts, coarctations and total anomalous pulmonary veins were shown. Calculations of stroke volume, flows, shunts and pressure-gradients were discussed. Potential misinterpretation sources as touching valves or walls by the sample volume, and wrong settings of filters and gain systems, as well as limitations of the equipment were described.

Ductus Arteriosus, Patent↗
PubMed2002

Midtrimester nuchal thickness and the prediction of postnatal congenital heart defect.

OBJECTIVE: The study was performed to determine the sensitivity of nuchal thickness measurements for the detection of congenital heart defects (CHD) and to develop an algorithm for estimating patient-specific risk of CHD. STUDY DESIGN: Nuchal thickness measurements (expressed as multiples of the median) were obtained in 3,003 midtrimester fetuses in which postnatal evaluation of the heart was available. The sensitivity and false-positive rate of nuchal thickness threshold values for detecting CHD were used to calculate the area under the receiver operating characteristics curve. Stepwise logistic regression analysis was used to determine the significant predictors of heart defect among nuchal thickness and epidemiologic risk factors. Individual risk of CHD was calculated on the basis of background population risk of major CHD (estimated at 4.4 of 1,000) and the product of the likelihood ratios of the significant risk factors from the logistic regression. RESULTS: There were 95 cases of confirmed CHD. Nuchal thickness was statistically significant for the prediction of CHD with an area under the curve = 0.58, P =.01. Nuchal thickness and prior child with CHD were the only significant predictors among the multiple risk factors for this disorder. Patient-specific risk estimates for CHD based on these two "markers" were calculated. It was accurate and improved the prediction of CHD, area under the curve = 0.63, P <.001, compared with nuchal thickness alone. CONCLUSION: Midtrimester nuchal thickness measurement significantly detected postnatally confirmed CHD in chromosomally normal fetuses. We report for the first time a method for estimating individual patient risk of CHD.

Algorithms↗
PubMed2003

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs. Here, we show that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23. A heterozygous G296S missense mutation of GATA4, a transcription factor essential for heart formation, was found in all available affected family members but not in any control individuals. This mutation resulted in diminished DNA-binding affinity and transcriptional activity of Gata4. Furthermore, the Gata4 mutation abrogated a physical interaction between Gata4 and TBX5, a T-box protein responsible for a subset of syndromic cardiac septal defects. Conversely, interaction of Gata4 and TBX5 was disrupted by specific human TBX5 missense mutations that cause similar cardiac septal defects. In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcriptionally inactive and segregated with cardiac septal defects. These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5.

Animals↗
PubMed1990

[Children with congenital heart defects in Vestfold 1982-88. Increase in the incidence resulting from improved diagnostics methods].

In the population of live born children in the County of Vestfold, Norway, during the seven-year period 1982-88 (N = 15,307), 138 cases of congenital heart defects were diagnosed (patent ductus arteriosus in preterm infants excluded), an incidence of 0.9%. In 114 infants (83%) the defect was diagnosed before discharge from hospital after birth (nursery, neonatal unit), in 20 infants (14%) it was diagnosed later during the first year of life, and in four (3%) during the second year of life. In 24 children (17%) congenital heart defect was associated with a syndrome (Down syndrome eight, Edwards syndrome three, other syndromes three), or other congenital malformations (single eight, multiple two). Diagnosis was made clinically only (including ECG, phonocardiography and X-ray pictures) in 15 patients (11%). 13 were classified as having ventricular septal defects, and two were unclassified. Echocardiography was performed in 120 children (87%), heart catheterization in 44 (32%), surgery in 47 (34%), and autopsy in 12 (9%). 15 children (11%) died, all during the first year after birth. 45 children (33%) are healthy after spontaneous closure of a ventricular (41 children) or atrial septal defect (four children), and 15 (11%) after surgical repair. 63 (46%) are alive with a defect. We found a tendency towards increasing incidence of congenital heart defects. This increase was explained by echocardiographic diagnosis of small muscular ventricular septal defects in the early neonatal period, with spontaneous closure of the defect during the first year of life.(ABSTRACT TRUNCATED AT 250 WORDS)

Heart Defects, Congenital↗
PubMed1975

A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect.

A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephaly and brachycephaly, enophthalmos, antimongoloid eye slant, hypertelorism, abnormal ears, a globulous nose, downward slanting mouth, hypoplasia of phalanges and abnormal palmar creases. In addition, the girl had an incomplete harelip, a cleft palate and a peculiar congenital heart defect, a ventricular septal defect with pulmonary valve stenosis and a marked hypoplasia of the pulmonary trunk, including the bifurcation. Chromosome analysis revealed a mosaicism with normal and abnormal mitoses (47 chromosomes). The extra chromosome was a metacentric E16-like chromosome, which on the basis of the G, R, Q and Giemsa-11-banding could be identified as an isochromosome of the short arm of chromosome 9 (46,XX/47,XX, +i (9) (pter leads to cen leads to pter)). The patient consequently had a partial tetrasomy of the short arm of chromosome 9.

Abnormalities, Multiple↗
PubMed2002

Increased nuchal translucency and congenital heart defects in euploid fetuses. The Szeged experience.

OBJECTIVE: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. METHODS: The pre- and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first- and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. RESULTS: 4251 births and 58 first- and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was > or = 3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3mm. CONCLUSIONS: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of > or = 3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance.

Female↗
PubMed1997

Surgery for congenital heart defects: a different world.

Caring for patients with congenital heart defects requires a different set of knowledge and skills than those used in the care of adult cardiac patients. Not only are these patients smaller, but the altered hemodynamics of their structural defects require different diagnostic and treatment skills. This article briefly discusses some of the basic differences.

Adult↗
PubMed2001

[A new combined surgical interventional method for univentricular palliation of congenital heart defects].

UNLABELLED: Total cavo-pulmonary anastomosis is frequently performed to palliate patients with a broad variety of congenital heart defects with functionally univentricular hearts precluding biventricular circulation. In patients with risk factors for primary repair a stepwise approach is frequently chosen with initial creation of an aorto-pulmonary shunt followed by a Glenn anastomosis or hemifontan procedure. Finally a total cavo-pulmonary connection is completed surgically. The aim of this feasibility study was to develop a combined surgical-interventional approach for creation of a total cavo-pulmonary anastomosis which reduces the number of surgical interventions, precludes extracorporeal circulation and intracardiac sutures, putting the patients at risk for subsequent rhythm disturbances. METHODS: A Glenn anastomosis was created in 10 sheep without cardio-pulmonary bypass. The superior vena cava was banded superior to the cavo-atrial junction leaving a minimal lumen for subsequent interventional balloon dilatation and implantation of a stent graft. A 15 mm Gore-Tex tube was sutured around the inferior vena cava intrapericardially to provide resistance for subsequent interventional stent implantation. Total cavo-pulmonary anastomosis was completed interventionally by dilating the banded vena cava superior and connection of the inferior vena cava to the superior vena cava by implanting an Aneurx covered stent graft. RESULTS: All animals survived the combined surgical-interventional procedure. Stent deployment was possible without causing obstruction to the hepatic veins. Neither stent dislocation nor rhythm disturbances were encountered. CONCLUSIONS: Total cavo-pulmonary anastomosis can be achieved without intracardiac sutures and cardio-pulmonary bypass by use of a combined surgical-interventional approach using the Aneurx covered stent graft.

Animals↗
PubMed1987

Sodium and potassium concentrations in red blood cells and plasma in children with congenital heart defect.

The sodium and potassium concentrations of the red blood cells and plasma were investigated in 93 children with cardiac disease, most of them with congenital heart defect, and in 48 healthy children of the same age. The red blood cell sodium and potassium concentrations were constant within a narrow range in normal subjects, but varied profoundly in pathological conditions. Digitalis treatment caused RBC Na+ and plasma K+ levels to increase and the RBC K+ level to decrease by blocking the Na+-K+ pump. The highest RBC Na+ concentration was observed in critically ill patients with congestive heart failure treated with digoxin. An augmented RBC sodium value was found in heart malformations with left to right shunt and in congestive cardiomyopathy that was not treated, whereas in patients with right to left shunt lower RBC sodium, higher RBC potassium and plasma potassium values were registered without any treatment. In cases of hyperkinetic circulation without any congenital heart defect the value of RBC sodium was definitely low. A low sodium and a high potassium level of the RBC were found after total correcting heart surgery. It is concluded that measurement of changes in sodium and potassium concentrations of the red blood cells is not a reliable method for assessment of the efficacy of digitalis treatment. The results point to the accompanying phenomena at a cellular level in heart disease.

Child↗
PubMed2006

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal Neonatal Network (NCPNN). Cases were 173 newborns admitted to the Neonatal Intensive Care Units (NICU) of participating hospitals during the 3-year period from January 1, 2000 to December 31, 2002 and diagnosed during their hospital stay as having one or more CHD. Cases with chromosomal abnormalities were excluded. Cases with more than one CHD were assigned one principal malformation. Controls consisted of a random sample of 865 newborns without a CHD admitted to the NICU during the same period. After controlling for confounders, first cousin consanguinity remained significantly associated with an increased risk of CHD: infants born to first cousin marriages had a 1.8 times higher risk of having a CHD diagnosed at birth compared to those born to unrelated parents (95% CI: 1.1-3.1). In particular, first-cousin marriage was a significant risk factor for ventricular septal defect (VSD), atrial septal defect (ASD), hypoplastic left heart (HLH), and single ventricle (SV). No association was found with d-transposition of the great arteries, coarctation, pulmonary atresia (PA), atrioventricular septal defect (AVSD), and tetralogy of Fallot (TOF). The results of this study suggest a familial factor in the multifactorial etiology of CHDs. Additional epidemiologic and family-based genetic studies are needed to understand the complex cause of CHDs.

Adult↗
PubMed2001

[Surgical treatment of congenital heart defect complicating severe pulmonary infection in infants and young children].

OBJECTIVE: To review the experience of surgical management of left to right shunt congenital heart defect complicating severe pulmonary infection. METHOD: Twenty patients aged 4-17 months who weighed 3.6-11.6 kg were analysed. Among them, 16 underwent surgical treatment. RESULTS: The mortality rate of 4 who received conservative therapy was 75% (3/4). The mortality rate of the operative group 16 Cases, was 12. 5% (2/16), 14 were doing well by follow-up of 8-24 months. CONCLUSION: Infants of Congenital heart defect Complicating Severe Pulmonary infection, Should be performed operation actively.

Adolescent↗
PubMed1995

Assessment of congenital heart defects by dynamic three-dimensional echocardiography: methods of data acquisition and clinical potential.

To evaluate the use of three-dimensional (3D) echocardiography in the diagnosis of congenital heart defects, we studied 238 patients aged 3 days to 19 years (mean 4.3 years) with normal hearts (n=13) or a variety of congenital heart defects (n=225). Three different modalities of data acquisition suitable for 3D reconstruction were applied. For parallel scanning, the transducer is held in a 6-cm long scan frame and then moved over the thorax, or in the subcostal position, by a stepper motor using 0.5-mm steps with acquisition of perpendicular parallel images of the heart. For rotational scanning, the transducer is rotated at sectors of 2 degrees over a span of 180 degrees. For fan-like scanning, the transducer is moved in an arc 45 degrees each way from its vertical axis. Movement of the transducer is computer-controlled and performed with electrocardiographic and respiratory gating. Between 80 and 120 slices of the heart are thus obtained, which form the 3D dataset. This dataset can then be ¿sectioned¿ in any desired plane, thus permitting generation of views simulating intraoperative perspectives. Ventricular septal defects and atrioventricular valves can be displayed as viewed via the atrium. Muscular ventricular septal defects can be viewed as seen through a ventriculotomy. Obstruction in the left ventricular outflow tract can be viewed as via an aortotomy, and so on. We concluded that this new imaging modality has a vast potential and may facilitate planning of intracardiac surgery.

Adolescent↗
PubMed1999

Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11.

Congenital heart defects (CHDs) are found in 75% of patients with DiGeorge/velocardiofacial (DG/VCF) syndromes with deletion 22q11.2 (del22q11). The purpose of this study was to analyse clinical features and, particularly, types and subtypes of CHDs associated with del22q11 in our series of patients and in those reported in other studies. All patients with CHD and del22q11 present major or minor clinical features of DG/VCF syndrome. Many children, particularly in the neonatal age, have only a "subtle" phenotype, so that accurate phenotypical evaluation is mandatory for selecting patients with CHD at risk for del22q11. Conotruncal cardiac defects are the most common CHDs in patients with DG/VCF syndrome, but other defects can also occur. Peculiar anatomical subtypes are found in patients with del22q11. They are frequently complex, consisting in malalignment with deficiency of the infundibular septum and anomalies of the aortic arch and pulmonary arteries.

Child↗
PubMed1992

Surgical correction of congenital heart defects in adults.

From April 1987 to April 1991, 30 patients over the age of 15 years underwent surgery for congenital heart defects in the adult department of the Professorial Unit of Cardiothoracic Surgery, Royal Infirmary of Edinburgh. Eighteen were females (60%) and 12 were males (40%). Ages ranged from 15 to 68 years (mean 38.1). Six patients 20% had undergone previous cardiac surgery. Operative and hospital mortality was zero. Major postoperative complications occurred in three patients. In the follow-up period between three months and four years, there has been one late death. The spectrum of patients with congenital heart defects over the age of 15 was reviewed. The relatively late presentation of these defects and the indications for operating in adult life are discussed.

Adolescent↗
PubMed1984

Chronic hypoxemia depresses global ventricular function and predisposes to the depletion of high-energy phosphates during cardioplegic arrest: implications for surgical repair of cyanotic congenital heart defects.

Persistence of impaired ventricular function after repair of cyanotic congenital heart defects may be due to previous exposure to chronic hypoxemia or to perioperative ischemic injury. Clarification of this phenomenon was sought in a canine model of cyanotic cardiovascular disease (Group I), in which the left atrium was anastomosed proximal to the banded pulmonary artery. Animals that had pulmonary artery banding alone (Group II) or no prior surgical intervention (Group III) served as controls. All Group I animals became cyanotic during the study period (arterial oxygen tension, 38 +/- 4 mm Hg; hematocrit, 55 +/- 5%). Radionuclide-determined ejection fractions performed three months after operation showed significant depression of global biventricular function by 16 to 29% (p less than 0.05) compared with groups II and III. On cardiopulmonary bypass, all hearts were subjected to 4 degrees C potassium cardioplegic arrest and reperfusion with serial assays for myocardial adenosine triphosphate (ATP) and creatine phosphate (CP) levels. The ATP and CP stores in each ventricle were similar at all sampling intervals, and preischemic levels were comparable in cyanotic and control groups. However, ATP levels were significantly depressed 37 to 43% from preischemic levels (p less than 0.02) after arrest and reperfusion in cyanotic dogs, but they were preserved in Groups II and III. During ischemia, CP stores were depleted to 27% of preischemic values in Group I but only to 46 to 63% of preischemic levels in the control groups (p less than 0.05). These data indicate that chronic hypoxemia impairs global ventricular function and predisposes to the accelerated depletion of high-energy phosphates during cardioplegic arrest.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenosine Triphosphate↗