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PubMedDate not supplied

Surgical correction of a partial atrioventricular septal defect with a ventricular septal defect in a dog.

Echocardiography of a dog with a cardiac murmur revealed an ostium primum septal defect, a ventricular septal defect, and mitral valve malformation with regurgitation. The mitral valve and tricuspid valve were separated and displaced at the same level as the ventricular septum. The mitral valve had a cleft in the septal cusp. Cardiac catheterization and angiocardiography showed a left-to-right shunt and a "goose-neck sign," which indicated an elongated left ventricular outflow tract. The diagnosis of a partial atrioventricular septal defect with ventricular septal defect was made. Surgical correction was successfully performed under extracorpo-real circulation using a cardiopulmonary bypass system.

Animals↗
PubMed1997

[A case of modified Fontan operation for corrected transposition of great arteries (I.D.D.) with atrial septal defect, ventricular septal defect, pulmonary stenosis, mitral atresia and hypoplastic left ventricle].

A 14-year-old boy with corrected transposition of the great arteries (I.D.D.), atrial septal defect, ventricular septal defect, pulmonary stenosis, mitral atresia and hypoplastic left ventricle was successfully operated. He had undergone modified Blalock-Taussig shunt at the age of two. After atrial septal defect was closed with bovine pericardial patch, small ventricular septal defects were closed directly through left ventricular incision. Then the incisional line on the left ventricle was extended to pulmonary artery. The stenotic and thickened pulmonary valve was excised. The upper part of the incisional line on the right atrium and that on the left ventricle were anastomosed. Consequently the connection between the right atrium and the pulmonary artery was able to be made through hypoplastic left ventricle. This case is extremely rare type in terms of mitral atresia and is classified as Group II, type B according to Eliot's classification. This type of repair is similar to Björk's method, however, we could not make use of left ventricular contraction because it was weak. The merit of this procedure was to be able to reconstruct blood tract without using artificial conduits.

Adolescent↗
PubMed1993

PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.

We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autosomal recessive disorder with phenotypic variability.

Abnormalities, Multiple↗
PubMed1977

Ventricular septal defect following blunt trauma: spontaneous closure of residual defect after surgical repair.

As a result of blunt chest trauma a patient developed a large ventricular septal defect (VSD). After surgical closure of the defect a grade 2/6 systolic murmur persisted. One year later findings were the same and left ventriculogram revealed a small residual VSD. Two years after the operation the systolic murmur had disappeared. We postulate that gradual endothelialization and possibly small thrombi (formed around and over the Dacron patch graft) caused the defect to close. This case serves to illustrate some of the Dacron patch graft) caused the defect to close. This case serves to illustrate some of the complexities in the diagnosis and management of an acquired VSD. To our knowledge this is the first reported spontaneous closure of a VSD occurring after incomplete surgical repair.

Adult↗
PubMed1985

Cloned DNA of defective avian sarcoma virus mutant LA46 encodes the cis-acting temperature-sensitive defect in replication.

Avian defective sarcoma virus mutant LA46 carries a temperature-sensitive defect in replication and transformation. To elucidate this defect, we cloned the integrated provirus of LA46. By DNA-mediated transfection, the cloned DNA induced fusiform-transformed foci in chick embryo fibroblasts without helper virus. LA46-encoded transformation-specific protein p105 was expressed in these transformants in the absence of helper virus-encoded proteins. Superinfection of the transformed cells with different helper viruses resulted in the rescue of pseudotypes. All the rescued pseudotypes retained the temperature-sensitive phenotype in virus replication and transformation, suggesting that the defect was due to a cis-acting lesion in the LA46 genome. Restriction enzyme comparison between LA46 and wild-type virus revealed sequence differences near the 5' and 3' termini of the LA46 genome, including the long terminal repeat regions.

Animals↗
PubMed1976

Clinical study on the flow murmurs at the defect area of atrial septal defect by means of intracardiac phonocardiography.

In order to study flow murmurs through atrial septal defects, right heart catheterization was performed on 48 patients of secundum type, four of primum type, and five of probe-patent foramen ovale, with the double-lumen phonocatheter of Lewis, at the tip of which barium titanate was mounted. The flow murmurs at the defect area were classified into three patterns: v murmur, atriosystolic murmur, and mid-diastolic murmur. V murmur was continuous, extending from late systole to diastole, of low to medium pitch, closely related to atrial v wave and augmenting with expiration. It had no significant correlation to the ratio of left-to-right shunt. It was recorded in 32 out of 48 cases of secundum type and one of primum type, but not observed in probe-patent foramen ovale. Atriosystolic murmur was noted in 17 of 48 cases of secundum type and one of primum type. It was connected with atrial a wave. Mid-diastolic murmur was found at the defect area in four subjects of secundum type. It was thought to be an independent entity from v murmur and to be another one due to shunt flow through the septal defect, since it had no relation to v wave but it was localized between v and a waves in the pressure curve of the right atrium. It is different in localization from mid-diastolic murmur due to relative tricuspid stenosis at the inflow tract of right ventricle.

Adult↗
PubMed1983

Aortopulmonary septal defect coexisting with ventricular septal defect and pulmonary atresia.

Three patients are described in whom an aortopulmonary septal defect (aortopulmonary window) coexisted with a ventricular septal defect and pulmonary atresia. One patient had mild and another, moderate aortic regurgitation. In addition, one patient had a sinus of Valsalva aortic aneurysm, while another had a single coronary artery arising from the pulmonary trunk. One patient underwent surgical correction in infancy; the other two, in early adult life. In all three patients, surgical correction involved closure of the aortopulmonary window, closure of the ventricular septal defect, and placement of a valved conduit between the right ventricle and the distal pulmonary trunk. One patient died 3 weeks postoperatively due to secondary hemorrhage where the conduit had been sutured to the right ventricle. The other two patients are alive and well 3 1/2 years and 6 months after surgery, respectively. The presence of aortopulmonary window permits normal development of the pulmonary arteries in the presence of the coexisting pulmonary atresia; in the three patients described, the absence of pulmonary vascular disease made total surgical repair feasible for this combination of defects.

Adult↗
PubMed2002

The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr.

Maternal mild hyperhomocysteinemia is associated with increased risk for bearing children with neural tube defects (NTD). Folate intake corrects hyperhomocysteinemia and prevents up to 70% of NTD. The curly-tail (ct) mouse, an animal model for NTD, has been suggested to display features that closely resemble the human defect. We therefore investigated folate metabolism in ct mice. On control and folate-/choline-deficient diets, ct mice exhibited higher plasma homocysteine levels than control C57Bl/6 mice. This increase was associated with increased liver S-Adenosylhomocysteine and decreased S-adenosylmethionine:S-adenosylhomocysteine (SAM/SAH) ratios. Since the ct locus maps in close proximity to the gene for methylenetetrahydrofolate reductase (Mthfr), a modifier of homocysteine levels in man, we also assayed Mthfr activity and sequenced the 5(') regulatory region; these experiments suggested that Mthfr is not defective in the ct strain. Finally, we examined the influence of dietary folate on NTD incidence in the ct strain, but did not identify significant differences among the four diets used in the study. Our work suggests that altered homocysteine metabolism may contribute to the pathogenetic mechanism of the ct defect, but, unlike human NTD, nutritional or genetic deficiencies in folate metabolism do not appear to play a significant direct role.

5' Flanking Region↗
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↗
PubMed1974

Defective interfering passages of Sindbis virus: nature of the intracellular defective viral RNA.

BHK cells infected with defective-interfering passages of Sindbis virus accumulate a species of RNA (20S) that is about half the molecular weight of the major viral mRNA (26S). We have performed competitive hybridization experiments with these species of RNA and have established that 20S RNA contains approximately 50% of the nucleotide sequences present in 26S RNA. Our further studies, however, demonstrate that 20S RNA is unable to carry out the messenger function of 26S RNA. We found very little of the defective RNA associated with polysomes in vivo. In addition, it was unable to stimulate protein synthesis in vitro under conditions in which 26S RNA was translated. We have also examined viral RNA synthesis in BHK cells infected with standard or defective-interfering passages of Sindbis virus. This comparison suggests that defective partioles do not synthesize a functional replicase.

Animals↗
PubMed1997

Defective herpes simplex virus type 1 vectors harboring gag, pol, and env genes can be used to rescue defective retrovirus vectors.

A retroviral packaging transcription unit was constructed in which the Moloney murine leukemia virus (MoMLV) gag-pol and env genes are expressed under the control of herpesvirus regulatory sequences. This transcription unit, lacking long terminal repeats, primer binding sites, and most of the retrovirus packaging signal but retaining both retroviral donor and acceptor splice sites, was cloned into a herpes simplex virus type 1 (HSV-1) amplicon plasmid, and amplicon vectors (the gag-pol-env [GPE] vectors) were generated by using a defective HSV-1 vector as helper virus. The GPE vector population was used to infect human TE671 cells (ATCC CRL 8805), harboring a lacZ provirus (TE-lac2 cells), and supernatants of infected cells were collected and filtered at different times after infection. These supernatants were found to contain infectious ecotropic lacZ retroviral particles, as shown both by reverse transcription-PCR and by their ability to transduce a beta-galactosidase activity to murine NIH 3T3 cells but not to human TE671 cells. The titer of retroviral vectors released by GPE vector-infected TE-lac2 cells increased with the dose of infectious amplicon particles. Retrovirus vector production was inhibited by superinfection with helper virus, indicating that helper virus coinfection negatively interfered with retrovirus production. Induction of retrovirus vectors by GPE vectors was neutralized by anti-HSV-1 but not by anti-MoMLV antiserum, while transduction of beta-galactosidase activity to NIH 3T3 cells by supernatants of GPE vector-infected TE-lac2 cells was neutralized by anti-MoMLV antiserum. These results demonstrate that HSV-1 GPE amplicon vectors can rescue defective lacZ retrovirus vectors and suggest that they could be used as a sort of launching ramp to fire defective retrovirus vectors from within virtually any in vitro or in vivo cell type containing defective retroviral vectors.

Defective Viruses↗
PubMed2005

Outcome of transcatheter closure of muscular ventricular septal defects with the Amplatzer ventricular septal defect occluder.

OBJECTIVES: To present further experience and intermediate term outcome in 30 patients with single muscular ventricular septal defects (MVSDs) who underwent transcatheter closure with the Amplatzer ventricular septal defect occluder (AVSDO). PATIENTS AND DESIGN: Thirty patients, aged 4 months to 16 years, with MVSDs underwent transcatheter closure with the AVSDO. The device consists of two low profile disks made of Nitinol wire mesh with a 7 mm connecting waist. The prosthesis size (waist diameter) was selected to be equal to the balloon "stretched" diameter of the defect. A 7-9 French sheath was used to deliver the AVSDO. Fluoroscopy and transoesophageal echocardiography guided the procedure. RESULTS: The stretched diameter of the defects ranged from 6-14 mm. The communication was completely occluded in 28 of 30 patients (93% closure rate). One patient (a 4 month old infant) with sustained complete left bundle branch block after the procedure went on to develop complete heart block one year later. No other complications were observed during a mean follow up of 2.2 years (range 0.25-4.5 years). CONCLUSIONS: The AVSDO is an efficient prosthesis that can be safely used in the majority of patients with a single MVSD. Further studies are required to establish long term results in a larger patient population.

Adolescent↗
PubMed1990

An association between left axis deviation and an aneurysmal defect in children with a perimembranous ventricular septal defect.

Conspicuous left axis deviation was found in two thirds (27 patients) of 44 children with a perimembranous ventricular septal defect, echocardiographic signs of apposition of the septal tricuspid valve leaflet, and an aneurysm of the membranous septum. In 10 patients earlier electrocardiograms did not show left axis deviation; this feature appeared when the aneurysm of the membranous septum was first seen on the echocardiogram. None of the 44 controls with perimembranous ventricular septal defect but without an aneurysm had left axis deviation. This study suggests that the appearances of conspicuous left axis deviation in a patient with ventricular septal defect indicate a spontaneous reduction in the defect by apposition of the septal tricuspid valve leaflet and by the formation of an aneurysm of the membranous septum.

Adolescent↗
PubMed1980

Spontaneous closure of residual ventricular septal defect following surgical repair of ventricular septal defect complicating acute myocardial infarction.

Spontaneous closure of ventricular septal defects in patients with congenital heart disease is well documented. Also, successful closure of ventricular septal defects complicating myocardial infarction performed in the acute phase have been reported, although the mortality rate is high. Intra-aortic balloon pumping has been helpful in this regard, as it was in our patient. Our case is of interest in that it demonstrates the possibility of spontaneous closure of a residual ventricular septal defect resulting from rupture of the interventricular septum, secondary to acute myocardial infarction, partially closed at surgery. Clearly, the residual defect was small in that the patient was substantially benefitted by surgery and the postoperative catheterization revealed a small 5% step-up in oxygen saturation at the right ventricular level.

Heart Septal Defects, Ventricular↗
PubMed1978

A variant form of median defect syndrome. Syndrome of combined congenital defects involving the supraumbilical abdominal wall, sternum, diaphragm, pericardium, and heart.

An autopsy case with the syndrome of combined congenital defects involving the supraumbilical abdominal wall, sternum, diaphragm, pericardium, and heart is reported. In this case, abnormal arterial plexus including anastomosis of the left coronary artery and the left internal mammary artery is recognized at the hernial pericardial wall, in addition to the already reported anomaly complex, i.e. diastasis recti abdominis with pericardial hernia, ventral defect of the diaphragm, partial defect of the sternum, and tetralogy of Fallot. It is suggested that this newly revealed vascular anomaly also comes within a specific syndrome of combined congenital defects.

Abdominal Muscles↗
PubMed1993

Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects.

BACKGROUND: From 1958 to 1969, 1,280 patients (mostly children) with ventricular septal defects (VSDs) were admitted to the First Natural History Study of Congenital Heart Defects (NHS-1) after cardiac catheterization. Most with small defects and Eisenmenger's syndrome were managed medically; most with large VSDs were managed surgically. Of those with moderate-size defects, some were managed medically, and some were managed surgically. Most had a second catheterization at the conclusion of NHS-1. More than 15 years have elapsed since NHS-1, and most of the cohort are adults. This report (Second Natural History Study) addresses the long-term results of medical and surgical management. METHODS AND RESULTS: Of an original cohort of 1,280 patients, 1,099 were alive at completion of NHS-1. New data were obtained on 976 (76.3%) of the original cohort. Probability of 25-year survival was 87%, and admission severity was the best predictor of survival. Of the 860 patients managed medically during NHS-1, 245 subsequently required surgical closure of the VSD. Only 5.5% of patients who had surgical closure required a second operation. On follow-up, there was a higher-than-normal prevalence of serious arrhythmias. Bacterial endocarditis occurred rarely. Of patients with small VSDs, 94.1% were in New York Heart Association functional class I. With the exception of those with Eisenmenger's syndrome, most patients had a final clinical status that was excellent or good. CONCLUSIONS: The majority of patients fared well. However, there was a higher-than-normal prevalence of serious arrhythmia and sudden death, including those with small VSDs.

Adolescent↗
PubMed1996

CVS-exposed limb deficiency defects with or without other birth defects: presentation of six cases born during a period of nine years.

We report on six cases with CVS-exposed limb-"reduction" defects born in our hospital during a period of 9 years (1986-1994). Four cases were associated with other birth defects. One had an oromandibular-limb hypogenesis syndrome with a cleft lip and jejunal atresia, a second had an oromandibular-limb hypogenesis (Hanhart) syndrome, a third had severe flexion deformity at the hips and hyperextension at the knees with meconium peritonitis and intestinal obstruction, and a fourth had Poland anomaly. Detailed clinical descriptions, prenatal diagnosis, photographs, and radiographs are presented. Our presentation adds to the information on severe limb abnormalities after CVS and suggests CVS-exposed limb defects may be associated with other birth defects resulting from vascular insufficiency or intrauterine compression. We suggest that detailed post-CVS sonographic followups are necessary for each CVS-exposed case to identify not only the possible fetal limb reduction, but also vascular disruption-type malformations and compressive deformities.

Abnormalities, Multiple↗
PubMed1995

Defect in formation of functional matrix vesicles by growth plate chondrocytes in avian tibial dyschondroplasia: evidence of defective tissue vascularization.

Avian tibial dyschondroplasia (ATD), a disease characterized by an almost total lack of mineralization in affected areas of growth plate cartilage, may involve defective matrix vesicle (MV) mineralization. To explore the biochemical defect in ATD, both normal and diseased tissue were analyzed for the amount of isolatable MVs, their chemical composition, and their ability to induce mineral formation. We found significantly fewer MVs in ATD tissue, and in contrast to normal MVs, which rapidly mineralized when incubated in synthetic cartilage lymph, those isolated from ATD lesions induced only limited mineralization even after prolonged incubation. Analysis by detergent extraction revealed a nearly dysfunctional nucleational core in ATD MVs. Thus, in ATD tissue, there is a defect in the formation of MVs, and those that form are nearly inactive. There were also alterations in the lipid-dependent Ca2+(-)binding proteins (annexins) in ATD MVs. There were lower levels of annexins II and VI in endogenously produced collagenase-released matrix vesicles (CRMVs), but not in matrix vesicle-enriched microsomes (MVEMs) produced by tissue homogenization. These findings indicate that there is insufficient Ca2+ in ATD cells to enable incorporation of the annexins into MVs. Finally, there was evidence of phospholipid breakdown in ATD MVs, as well as in ATD tissue generally. This indicated that the ATD lesions were becoming necrotic. Taken together, these findings indicate that there is a defect in tissue vascularization such that the supply of mineral ions and nutrients to ATD cartilage is inadequate to support normal MV formation and subsequent mineralization.

Alkaline Phosphatase↗