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PubMed2001

Ascertainment of pregnancies terminated because of birth defects: effect on completeness of adding a new source of data.

BACKGROUND: When evaluating preventive programs such as folate promotion and rubella vaccination, it is critically important to include terminations of pregnancy for neural tube defects and congenital rubella syndrome. Data from birth defects registries are often used for this purpose. The Western Australian Birth Defects Registry ascertains cases of birth defects in livebirths, stillbirths, and terminations of pregnancy for fetal abnormality, using multiple sources of ascertainment. METHODS: Data on terminations of pregnancy for fetal abnormality from the Western Australian Hospital Morbidity Data System 1980-1997 (not previously available to the Registry) were used to estimate the completeness of ascertainment of such cases by the Registry. Ascertainment-adjusted prevalences were calculated using capture-recapture methods. RESULTS: A total of 702 terminations with birth defects were identified among hospital discharges, most of which were already known to the Registry (87.9%). Of the 85 new cases, seven had a neural tube defect, 23 had a chromosomal defect, and 12 had confirmed maternal rubella infection during pregnancy. The ascertainment-adjusted prevalence was not importantly [corrected] different for birth defects overall or for these individual conditions, although the 95% confidence intervals for all birth defects, and for all chromosomal defects, did not include the prevalence based on registered cases only. CONCLUSIONS: The Western Australian Birth Defects Registry ascertains a high proportion of pregnancies terminated for fetal abnormality, and should therefore be a reliable source of data with which to assist in monitoring the effectiveness of preventive programs.

Abortion, Induced↗
PubMed1987

Bidirectional flow in congenital ventricular septal defect: a Doppler echocardiographic study.

The purpose of this study was to demonstrate the value of combined two-dimensional and pulsed Doppler echocardiography (echo) in localizing and recording bidirectional flow in congenital ventricular septal defect. Eight children, aged 8 months to 16 years, with clinical signs of a ventricular septal defect, underwent two-dimensional and pulsed Doppler echo study prior to cardiac catheterization. The ventricular septal defect was documented anatomically by two-dimensional echo in all eight patients. Flow patterns in systole and diastole through the ventricular septal defect and on both sides of the defect were carefully studied. In all eight children, systolic, high velocity, pathologic, left to right flow was documented when the sampling volume was positioned on the right ventricular side of the defect. When the sampling volume was positioned inside the defect, to and fro flow, left to right in systole and right to left in diastole, was observed. In children with moderate to large defects, the diastolic flow had a peak in early diastole. Increased pressure in the right ventricle over the left ventricle during the same period was demonstrated by cardiac catheterization and coincided with the Doppler flow. The direction of flow across the defect was affected by the size of the defect and the magnitude of the net shunt. Two-dimensional and pulsed echo Doppler were shown to be useful in demonstrating the ventricular septal defect and estimating its size and hemodynamic significance noninvasively.

Adolescent↗
PubMed2003

Analysis of the embryonic phenotype of Bent tail, a mouse model for X-linked neural tube defects.

Neural tube defects, mostly believed to result from closure defects of the neural tube during embryonic development, are frequently observed congenital malformations in humans. Since the etiology of these defects is not well understood yet, many animal models for neural tube defects, either arising from spontaneous mutations or generated by gene targeting, are being studied. The Bent tail mouse is a model for X-linked neural tube defects. This mutant has a characteristic short and kinked tail. Exencephaly occurs in Bent tail embryos with a frequency of 11-16%. Laterality defects also belong to the phenotypic spectrum. In this study, we analyzed the embryonic phenotype in further detail using scanning electron microscopy during the stages of neurulation. We observed a number of defects in both wild type and Bent tail embryos, including a kinked neural tube, tight amnion, delay in axial rotation and even malrotation. The severity or frequency of most defects, the delay in axial rotation excluded, was significantly higher in Bent tail embryos compared to wild type embryos. Other abnormalities were seen in Bent tail embryos only. These defects were related to anterior and posterior neural tube closure and resulted in exencephaly and a closure delay of the posterior neuropore, respectively. The exencephalic phenotype was further analyzed by light microscopy in ED14 embryos, showing disorganization and overgrowth in the mesencephalon and rhombencephalon. In conclusion, the anterior and posterior neural tube closure defects in the Bent tail are strictly linked to the genetic defect in this mouse. Other phenotypic features described in this study also occur in the wild type genetic background of the Bent tail strain. Apparently, the genetic background contains elements conducive to these developmental abnormalities.

Animals↗
PubMed2005

Three-dimensional echo-guided beating heart surgery without cardiopulmonary bypass: atrial septal defect closure in a swine model.

OBJECTIVE: In this study, we tested 3 techniques of atrial septal defect closure under real-time 3-dimensional echocardiography guidance in a swine model. METHODS: The operations were conducted under the sole guidance of a modified real-time 3-dimensional echocardiography guidance system with a x4 matrix transducer (Sonos 7500, Philips Medical Systems, Andover, Mass). Eighteen swine were anesthetized, and after median sternotomy, the echo probe was applied directly to the surface of the right atrium. To create an atrial septal defect, balloon atrial septostomy and atrial septal defect enlargement were performed. Subsequently, 3 different techniques of atrial septal defect closure were attempted: group I, direct suture closure; group II, closure of the atrial septal defect using the Amplatzer device (AGA Medical Corp, Golden Valley, Minn); and group III, patch closure of the atrial septal defect (n = 6 each). RESULTS: Real-time 3-dimensional echocardiography guidance provided sufficient spatial resolution and a satisfactory frame rate to provide a "virtual surgeon's view" of the relevant anatomy during the entire procedure. All atrial septal defects were enlarged, and the mean final size was 8.5 +/- 1.8 mm. Atrial septal defect closure was successfully accomplished with all the 3 surgical techniques examined. In groups I and III, the needles (1-3 sutures) and staples (6-12 staples) penetrated the tissue and patch material consistently, whereas in group III, the Amplatzer atrial septal defect device was easily deployed. There was no incident device/staple embolization or air introduction. Neither intraoperative 2-dimensional color Doppler echocardiography nor postmortem macro-evaluation revealed any residual shunts. CONCLUSIONS: Beating heart atrial septal defect closure under real-time 3-dimensional echocardiographic guidance is feasible and, unlike catheter-based devices, applicable for any type of secundum atrial septal defect.

Animals↗
PubMed1977

Ventricular septal defect in interruption of aortic arch.

A necroscopy study of 34 patients with interruption of the aortic arch was carried out to characterize more fully the ventricular septal defect and the anatomic basis of subaortic obstruction. In 21 patients (61.8 percent) the site of interruption was between the left common carotid artery and the left subclavian artery; in 13 (38.2 percent) it was distal to the left subclavian artery; no case of interruption just distal to the innominate artery was found. A ventricular septal defect was present in all but two patients, both with large aortopulmonary fenestrations. All patients had visceroatrial situs solitus and D-ventricular loop. The great arteries were normally related in 33 patients and D-transposition was found in one patient. Twenty-one patients had a ventricular septal defect involving the conal septum. Conoventricular malalignment resulted in a typical subpulmonary ventricular defect. The malignant was characteristically in a leftward direction allowing for potential muscular narrowing of the left ventricular outflow tract. In some patients, the conal ventricular septal defect was characterized by a deficiency of a the conal septum without malalignment. In 4 of 21 patients with a ventricular septal defect involving the conal septum, the defect was immediately adjacent to the pulmonary.value. Typical infracristal membranous ventricular defects five patients), cushion defects (3 patients) and muscular defects (3 patients), were also found. The potential for subaortic narrowing was present in some of these patients as well. No relation between position of ventricular septal defect and type of arch interruption could be discerned. The presence or absence of subaortic obstruction was not predictive of a specific type of interruption. Similarly, although deformity of the aortic valve was not uncommon in this series, it was not associated with any specific type of interruption.

Aorta↗
PubMed2003

Tetralogy of Fallot with subarterial ventricular septal defect.

BACKGROUND: Tetralogy of Fallot with subarterial ventricular septal defect is frequently seen among Asians. Compared with infracristal ventricular septal defect, postoperative right ventricular outflow obstruction is more likely because of subpulmonary extension of the defect. Moreover the incidence of aortic regurgitation is a concern because of the absence of a supporting infundibulum. METHODS: Four hundred cases of classic tetralogy were reviewed, 61 of which had subarterial ventricular septal defect. RESULTS: Aortic regurgitation (of more than mild degree) was identified in 7 cases with subarterial and 7 with infracristal ventricular septal defects. The mechanism of infracristal defect was predominantly an annular dilation before surgery. In contrast 5 cases with subarterial defect had progression of aortic regurgitation after operation yielding an actuarial incidence of 29.7% at 20 years. In 2 patients the cause seemed to be fixation or plication of the aortic valve annulus by the ventricular septal patch. Compared with infracristal defect, subarterial defect was associated with increased incidence of reoperation (12.0% versus 1.9% at 10 years, p = 0.01), frequent use of transannular patch (70.5% versus 45.7%, p = 0.0004), and worse New York Heart Association (NYHA) functional class (p = 0.007). Right ventricular outflow obstruction was the reason for reoperation in 3 patients with subarterial defect and was associated with worse NYHA classification in the long-term, on multivariate analysis (p = 0.0002). CONCLUSIONS: Tetralogy with subarterial ventricular septal defect was associated with worse functional outcome. To prevent adverse outcomes, precise suturing of the distal ventricular septal patch, extensive infundibulectomy, lower threshold for transannular incision, and smaller-sized ventricular septal patch placement are warranted.

Aortic Valve↗
PubMed1998

Techniques and results in the management of multiple ventricular septal defects.

OBJECTIVE: The management of patients with multiple ventricular septal defects remains controversial. Primary closure, interventional catheter techniques, and palliative surgery all may have a role, and specific management guidelines remain undefined. METHODS: We reviewed the records of all 33 patients with multiple ventricular septal defects undergoing repair between January 1988 and October 1996. Pulmonary artery hypertension was present in 21 patients (group 1), and pulmonary stenosis was present in the remaining 12 (group 2). Closure was accomplished from a right atriotomy alone in most patients, although an apical left ventriculotomy was used for apical defects. Among group 1 patients, the mean age at repair was 5.9 +/- 0.9 months. Major associated anomalies included coarctation (n = 6), straddling tricuspid valve (n = 1), and critical aortic stenosis (n = 1). Reoperation was performed in two patients for residual ventricular septal defects. Among group 2 patients, the mean age at repair was 6.6 +/- 3.2 years. Major associated anomalies included tetralogy of Fallot (n = 2), pulmonary stenosis (n = 4), double-outlet right ventricle with hypoplastic left ventricle (n = 1), and isolated left ventricular hypoplasia (n = 1). Three required reoperation for residual ventricular septal defect. RESULTS: There were no early or late deaths, no episodes of heart block, and no significant residual ventricular septal defects among group 1 patients. All group 1 patients remain free of significant residual cardiovascular conditions at a mean of 23.4 +/- 5.1 months. Among group 2 patients, there was one early death in a patient with double-outlet right ventricle and left ventricular hypoplasia. Complete heart block occurred in two patients and one required late mitral valve replacement. There were no late deaths, seven remain alive without significant residual defects at a mean of 36.2 +/- 8.0 months, and two required transplantation for left ventricular failure. CONCLUSIONS: Primary repair for infants with multiple ventricular septal defects is associated with good late outcomes. The right atrial approach is satisfactory for most muscular defects, although limited apical left ventriculotomy was used for apical defects. Pulmonary artery banding should be limited to patients with complex associated defects.

Abnormalities, Multiple↗
PubMed1987

The ventricular septal defect in complete transposition of the great arteries: pathologic anatomy in 57 cases with emphasis on subaortic, subpulmonary, and aortic arch obstruction.

Fifty-seven heart specimens with complete transposition (concordant atrioventricular and discordant ventriculo-arterial connections) and ventricular septal defect were reviewed to establish the spectrum of morphology of the ventricular septal deficiency and to correlate the type of defect with presence of subarterial and aortic arch obstruction. The ventricular septal defect was single in 52 cases (27 perimembranous and 25 muscular) and multiple in five. A normal alignment between the outlet component and the rest of the muscular septum was present in 18 cases (10 perimembranous, five muscular, and three multiple). The defect was the consequence of septal malalignment in the other 39 specimens; 29 with rightward and 10 with leftward displacement of the outlet septum. Rightward displacement led to perimembranous defects in 16 cases and muscular defects in 12. In another instance, a perimembranous malalignment defect was associated with a muscular inlet defect. Subaortic stenosis due to either deviation of the outlet septum or prominence of the ventriculo-infundibular fold and septoparietal trabeculations was observed in 14 cases. Leftward displacement of the outlet septum was associated with one perimembranous and eight muscular defects and with multiple (muscular outlet plus muscular inlet) defects in another case. Of these, five cases showed subpulmonary stenosis. Aortic arch obstructions were present in 19 cases; 14 showed rightward malalignment of the outlet septum, which produced subaortic stenosis. These findings suggest two things: Unlike the situation in hearts with "normally related" great arteries, most defects in complete transposition result from malalignment of the outlet septum, with many being of the muscular type. Rightward or leftward displacement of the outlet septum frequently results in subaortic or subpulmonary stenosis, respectively. Aortic arch obstructions, although frequent, are not always associated with subaortic stenosis.

Adolescent↗
PubMed2004

[Follow-up of longstanding ventricular septal defects].

OBJECTIVE: Ventricular septal defect is the most frequently diagnosed congenital heart defect. The prognosis is usually good. The aim of this study was to describe this idea to general pediatricians. MATERIAL AND METHODS: We review the follow-up of 81 patients with ventricular septal defect. Defects that spontaneously closed in the first 12 months of life and those that formed part of a malformative syndrome or a complex congenital heart defect were excluded. RESULTS: Localization was perimembranous, including all defects affecting mainly the septal membrane independent of whether the surrounding tissues were involved, in 66.7 %, muscular in 29.6 % and mixed in 3.7 %. Perimembranous position was more frequent among large and medium-sized defects. Large and perimembranous defects were characterized by holosystolic murmur; in small, muscular defects, murmur was cut off in mid-systole. In 45.8 % of large defects, weight development was delayed, but there was no appreciable effect on height. Generally we observed a tendency to partial closure and to improvement. Surgical closure was required in 9.8 %. CONCLUSIONS: Because of the trend to partial or complete spontaneous closure, the prognosis of ventricular septal defect is generally good.

Algorithms↗
PubMed2000

Folic acid antagonists during pregnancy and the risk of birth defects.

BACKGROUND: Multivitamin supplementation in pregnant women may reduce the risks of cardiovascular defects, oral clefts, and urinary tract defects in their infants. We evaluated whether the folic acid component of multivitamins is responsible for the reduction in risk by examining the associations between maternal use of folic acid antagonists and these congenital malformations. METHODS: We compared data on exposure to folic acid antagonists that act as dihydrofolate reductase inhibitors and to certain antiepileptic drugs for 3870 infants with cardiovascular defects, 1962 infants with oral clefts, and 1100 infants with urinary tract defects with data for 8387 control infants with malformations the risk of which is not reduced after vitamin supplementation. Mothers were interviewed within six months after delivery about their medication use. RESULTS: The relative risks of cardiovascular defects and oral clefts in infants whose mothers were exposed to dihydrofolate reductase inhibitors during the second or third month after the last menstrual period, as compared with infants whose mothers had no such exposure, were 3.4 (95 percent confidence interval, 1.8 to 6.4) and 2.6 (95 percent confidence interval, 1.1 to 6.1), respectively. The relative risks of cardiovascular defects, oral clefts, and urinary tract defects after maternal exposure to antiepileptic drugs were 2.2 (95 percent confidence interval, 1.4 to 3.5), 2.5 (95 percent confidence interval, 1.5 to 4.2), and 2.5 (95 percent confidence interval, 1.2 to 5.0), respectively. Use of multivitamin supplements containing folic acid diminished the adverse effects of dihydrofolate reductase inhibitors, but not that of antiepileptic drugs. CONCLUSIONS: Folic acid antagonists, which include such common drugs as trimethoprim, triamterene, carbamazepine, phenytoin, phenobarbital, and primidone, may increase the risk not only of neural-tube defects, but also of cardiovascular defects, oral clefts, and urinary tract defects. The folic acid component of multivitamins may reduce the risks of these defects.

Abnormalities, Drug-Induced↗
PubMed1982

Etiologic heterogeneity of neural tube defects: clues from epidemiology.

The epidemiology of neural tube defects was reviewed, using data from two birth defects surveillance systems: the nationwide Birth Defects Monitoring Program and the Metropolitan Atlanta Congenital Defects Program, for 1970-1978 and 1968-1979, respectively. After excluding cases with recognized causes, neural tube defects were divided into two major groups: "singles" and "multiples," depending on the presence of associated major defects. Only singles, which accounted for the majority of cases, were shown to have the well-known epidemiologic characteristics of neural tube defects: marked predominance of females and whites, geographic variation with an east-to-west gradient, and decreasing rates over time. On the other hand, multiples had no excess of females and occurred less predominantly in whites; moreover, their rates showed no geographic variation and little or no downward trends over time. The presence of associated defects indicates that neural tube defects are epidemiologically and probably etiologically heterogeneous. It is suggested that analytic studies of neural tube defects may be more rewarding if they try to identify different risk factors associated with various subgroups. This approach to the study of birth defects may provide better clues to their etiology and pathogenesis.

Chromosome Aberrations↗
PubMed1984

A study of interfering herpes simplex virus DNA preparations containing defective genomes of either class I or II and the identification of minimal requirements for interference.

Progeny DNA of herpes simplex virus type 1 (HSV-1) strain ANG from infections involving defective interfering virus particles (DI DNA) has been described to be of low infectivity in transfection assays due to the presence of viral genomes that interfere with plaque formation by infectious standard genomes. In this study it is shown that this observation applies both for DI DNA containing repetitive defective DNA of the class I type and for DI DNA containing class II-type defective DNA. Restriction endonucleases with recognition sites only in one class of repetitive defective DNA could be used to reduce selectively the interfering activity of DI DNA preparations containing the respective defective DNA in abundance. The results obtained directly implicate repetitive defective DNA as an interfering agent. Restriction endonucleases that create monomeric DNA fragments from class II HSV-1 ANG defective DNA did not abolish the interfering activity of DI DNA containing this type of defective DNA in high abundance, indicating that it is not simply the repetitive nature of defective DNA that is required for interference. Certain DNA fragments shorter than the repeat unit of repetitive defective DNA were still capable of causing interference even in the absence of cohesive single-stranded ends. The common location of cis recognition signals responsible for progeny DNA maturation and initiation of DNA replication on one DNA fragment, however, appeared to be a minimal requirement for interference by fragmented defective DNA.

Animals↗
PubMed2005

Survival after surgery for congenital heart defects: does reduced early mortality predict improved long-term survival?

AIM: The objectives of this study were 1) to compare early mortality (first 30 d after surgery) and long-term survival between two cohorts of patients operated on for congenital cardiac defects, and 2) to evaluate the impact of possible changes in early mortality on long-term survival. METHODS: 945 patients with congenital cardiac defects, born in 1990-1999 and operated on in the same period were examined in a retrospective cohort study. The patients were divided into three groups: "univentricular cardiac defects", "severe cardiac defects" and "less severe cardiac defects". The study population was divided into two cohorts: group 1 included patients born and operated on in 1990-1994; group 2 included patients born and operated on in 1995-1999. The survival patterns in the two groups were compared. RESULTS: For all patients, except those with univentricular cardiac defects, early mortality (30 d after surgery) was reduced. Among patients with severe cardiac defects, early mortality was reduced from 18.6% in group 1 to 2.9% in group 2. Among patients with less severe cardiac defects, early mortality was reduced from 6.2% to 1.9%. The improved outcome was maintained during the following 5 y. Overall relative risk of death during follow-up was reduced to 0.31 (95% CI: 0.15-0.56) for patients with severe cardiac defects, and to 0.53 (95% CI: 0.31-0.93) for patients with less severe cardiac defects born and operated on in 1995-1999. CONCLUSION: Early mortality has been substantially reduced in congenital heart defect patients, and corresponds with significantly improved long-term survival.

Child, Preschool↗
PubMed1994

Primary transcatheter umbrella closure of perimembranous ventricular septal defect.

OBJECTIVES: The starting hypothesis was that some perimembranous ventricular septal defects can be closed safely and effectively with a Bard Rashkind double umbrella introduced through a long transvenous sheath. DESIGN: A descriptive study of all patients who underwent attempted transcatheter umbrella closure of a perimembranous ventricular septal defect. Those patients selected for the study had symptoms of a ventricular septal defect and a perimembranous ventricular septal defect shown by transthoracic echocardiography. The morphological criteria used were a posterior perimembranous defect with a diameter of < or = 8 mm not associated with overriding of the aortic or pulmonary valve or with aortic valve prolapse. The haemodynamic criteria for inclusion in the study were a right to left ventricular systolic pressure ratio of > 0.45, a Doppler derived right ventricular systolic pressure of > 50 mm Hg, and a pulmonary to systemic flow ratio > 3:1. SETTING: A tertiary referral centre. PATIENTS: 13 infants, children, and adolescents with a perimembranous ventricular septal defect aged 3 weeks to 16 years and weighing 1.8-46 kg. INTERVENTIONS: A modified Rashkind ductal double umbrella was introduced through a long transvenous sheath and positioned on either side of the ventricular septal defect. Placement was guided by transoesophageal echocardiography. RESULTS: 10 out of 13 patients underwent successful partial or complete closure of a perimembranous ventricular septal defect. There were three placement failures. Two of these were associated with a ventricular septal defect too large for the umbrella device. In a third case the umbrella was opened in the left ventricular outflow tract necessitating surgical removal and closure of the ventricular septal defect. CONCLUSION: Transcatheter umbrella closure of a perimembranous ventricular septal defect is technically feasible and can be therapeutically successful, although the procedure is moderately difficult to perform and the mean procedure time is > 120 minutes. It is an alternative to surgery in some cases, but the overall results would not support its routine use even with the introduction of larger devices of the current design.

Adolescent↗
PubMed1995

Morphological, haemodynamic, and clinical variables as predictors for management of isolated ventricular septal defect.

OBJECTIVE: To assess the predictive impact of morphological, haemodynamic, and clinical variables in the management of patients with isolated ventricular septal defect. DESIGN: Retrospective analysis of variables by a sophisticated database management system. PATIENTS AND METHODS: 263 consecutive patients with isolated ventricular septal defect diagnosed by echocardiography. The morphological type and haemodynamic character of the ventricular septal defect was characterised in each patient. In addition, variables were introduced to represent the need for diuretics, growth, and potential delay in growth. In 43 patients (16.3%) the ventricular septal defect was closed surgically; 220 patients (83.7%) were managed conservatively and spontaneous closure of the ventricular septal defect occurred in 65 (29.5%). There were no deaths. RESULTS: All patients managed surgically had non-restrictive defects and were operated on during the first year of life. A few patients with non-restrictive defects were managed conservatively. The two groups differed significantly only with respect to mean growth delay (0.65 (0.27) v 0.9 (0.21), P < 0.001). Only the morphology of the ventricular septal defect significantly (P < 0.001) influenced the probability of closure. CONCLUSIONS: Findings imply that early surgical closure of ventricular septal defect is indicated in patients with non-restrictive ventricular septal defect and severe growth delay. Other patients should be managed conservatively. In these patients the morphological type of the defect determines the probability of spontaneous closure and provides an estimate of the period over which decreased in size or closure can be expected.

Child, Preschool↗
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↗
PubMed1987

Abnormal endothelial factor VIII associated with pulmonary hypertension and congenital heart defects.

In patients with pulmonary hypertension associated with congenital heart defects, ultrastructural abnormalities are observed in endothelial cells, which suggest heightened metabolic function. If endothelial production of the von Willebrand factor (vWF) is increased, this may be associated with abnormal interactions with platelets leading to worsening of the pulmonary hypertension. We therefore evaluated vWF in 30 patients with pulmonary hypertension (25 with congenital heart defects) and in 30 individuals with normal pulmonary arterial pressure (12 with congenital heart defects). We measured the antigenic (vWF: Ag) and biologic (VWF: rist) activity of vWF in plasma and assessed endothelial vWF: Ag directly by an immunoperoxidase stain applied to lung biopsy tissue. Because of considerable variance and small size, the group of five patients with pulmonary hypertension and without congenital heart defects were excluded from statistical analyses. Patients with pulmonary hypertension and congenital heart defects had significant higher vWF: Ag levels than individuals with normal pulmonary arterial pressure without congenital heart defects (p less than .05), whereas values in those with normal pressure and congenital heart defects were intermediate. In lung biopsy tissue available from 29 patients in this study and from 11 others we previously reported, immunostain of pulmonary arterial endothelium for vWF was intense (suggesting increased production) in 29 of 32 with pulmonary hypertension and congenital heart defects and in only one of eight with normal pulmonary arterial pressure and congenital heart defects (p less than .01). Only three patients with congenital heart defects and pulmonary hypertension and increased vWF: Ag, however, had increased vWF: rist. Compatible with this discrepancy was a loss of vWF high-molecular weight forms as determined by both crossed immunoelectrophoresis and multimeric analysis. Our results suggest that increased vWF in most patients with congenital heart defects and pulmonary hypertension is associated with increased production of a biologically deficient molecule lacking high-molecular weight forms.

Adolescent↗
PubMed1983

Angiographic differentiation of types of ventricular septal defects.

A retrospective study of 40 patients with 41 surgically repaired ventricular septal defects was performed in order to correlate the anatomic findings with the angiographic features seen by axial angiography. In 39 patients there were 32 perimembranous, three muscular, and four subarterial defects. One patient had both perimembranous and inlet muscular ventricular septal defects. Perimembranous defects as seen on left ventriculograms on long axial view are in continuity with the aortic valve. The relation of the defect to the tricuspid valve allows distinction of the extension of the perimembranous defect toward the inlet, trabecular, or infundibular zones. This relation was determined angiographically, using the course of the contrast medium from the left ventricle through the ventricular septal defect opacifying the right ventricle. Muscular defects are separated from the semilunar and atrioventricular valves. Subarterial defects are related to both semilunar valves, and they are best demonstrated by the elongated right anterior oblique view of the left ventriculogram. This study demonstrated that with axial views an experienced angiographer can define the location, size, and relations of the ventricular septal defects with high accuracy. In only two of the 41 defects there were differences between the retrospective angiographic prediction and the previous surgical findings.

Adolescent↗