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At least 253 records · Page 14Linked to original sources
PubMed1996

"Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds.

Two unrelated patients belonging to two Italian kindreds with a history of thrombotic manifestations were found to have a double heterozygous defect of factor V (F. V), namely type I quantitative F.V defect and F.V Leiden mutation. Although DNA analysis confirmed the presence of a heterozygous F.V Leiden mutation, the measurement of the responsiveness of patients' plasma to addition of activated protein C (APC) gave results similar to those found in homozygous defects. It has been recently reported in a preliminary form that the coinheritance of heterozygous F. V Leiden mutation and type I quantitative F. V deficiency in three individuals belonging to the same family resulted in the so-called pseudo homozygous APC resistance with APC sensitivity ratio (APC-SR) typical of homozygous F.V Leiden mutation. In this study we report two new cases of pseudo homozygous APC resistance. Both patients experienced thrombotic manifestations. It is likely that the absence of normal F.V, instead of protecting from thrombotic risk due to heterozygous F.V Leiden mutation, increased the predisposition to thrombosis since the patients became, in fact, pseudo-homozygotes for APC resistance. DNA-analysis is the only way to genotype a patient and is strongly recommended to confirm a diagnosis of homozygous F.V Leiden mutation also in patients with the lowest values of APC-SR. It is to be hoped that no patient gets a diagnosis of homozygous F.V Leiden mutation based on the APC-resistance test, especially when the basal clotting tests, i.e., PT and aPTT; are borderline or slightly prolonged.

Adolescent↗
PubMed1998

Impaired Ca2+-induced tyrosine phosphorylation and defective lipid scrambling in erythrocytes from a patient with Scott syndrome: a study using an inhibitor for scramblase that mimics the defect in Scott syndrome.

Scott syndrome is an hereditary bleeding disorder characterized by a deficiency in platelet procoagulant activity. Unlike normal blood cells, Scott platelets, as well as erythrocytes and lymphocytes, are strongly impaired in their ability to scramble their membrane phospholipids when challenged with Ca2+. In normal cells this collapse of membrane asymmetry leads to surface exposure of phosphatidylserine. Here we report that Scott erythrocytes show an apparent defect in tyrosine phosphorylation on treatment with Ca2+-ionophore. Diminished tyrosine phosphorylation was also apparent in activated Scott platelets, but much less pronounced than observed in red blood cells. On the other hand, tyrosine phosphorylation profiles observed in Scott red blood cell ghosts after sealing in the presence of adenosine triphosphate (ATP) were indistinguishable from those obtained from normal ghosts. Several observations argue in favor of a mechanism in which tyrosine phosphorylation in red blood cells is facilitated by, rather than required for scrambling of membrane lipids. Staurosporin blocks tyrosine phosphorylation in normal red blood cells, but does not inhibit the lipid scrambling process. White ghosts from normal erythrocytes, resealed in the absence of ATP, exhibit Ca2+-induced lipid scrambling without tyrosine phosphorylation. A selective inhibitor of Ca2+-induced lipid scrambling also showed an apparent inhibition of tyrosine phosphorylation in ionophore-treated normal red blood cells, similar to that observed in Scott erythrocytes. While this inhibitor also suppressed Ca2+-induced lipid scrambling in ghosts that were sealed in the presence of ATP, it did not inhibit tyrosine kinase activity. We conclude that the apparent deficiency in tyrosine phosphorylation in Scott cells is an epiphenomenon, possibly associated with a defect in phospholipid scrambling, but not causal to this defect.

Adenosine Triphosphate↗
PubMed1976

Zinc as a possible causal factor in the sterilizing sperm tail defect, the 'Dag-defect', in Jersey bulls.

The zinc content was determined in semen samples from four young Danish Jersey bulls showing the typical 'Dag defect' (greater than 50% strongly coiled or bent sperm tails). Two of the bulls were half brothers. Semen samples from 14 normal fertile Jersey bulls served as controls. The normal material showed a zinc content in the centrifuged sperm of 190 +/- 15.8 mug/g d.w. and in the seminal plasma 81 +/- 31.2 mug/g d.w. In the four abnormal bulls the following elevated values were found: in the centrifuged sperm 310 +/- 109.5 mug/g d.w. and in the seminal plasma 137 +/- 75.2 mug/g d.w. (see figs. 1 and 2). One of the Dag defect's main localizations, the outer dense tail fibers, has a very high zinc content and this fact together with the heredity of the defect make further studies most promising.

Animals↗
PubMed1989

Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: an autosomal recessive disorder?

We report on two sisters with secundum atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. Identical anatomical malformations were verified by echocardiography and at operation. No other affected relatives were identified. We suggest that this is a specific, possibly recessively inherited type of complex cardiac malformation.

Aortic Coarctation↗
PubMed1975

Relationships of the tricuspid valve to the membranous ventricular septum in Down's syndrome without endocardial cushion defect: study of 28 specimens, 14 with a ventricular septal defect.

The commissure between the anterior and medial leaflets of the tricuspid valve is commonly absent in Down's syndrome without endocardial cushion defect (19 of 28 specimens). As a result, aneurysm of the membranous ventricular septum may develop (eight of 14 specimens with ventricular septal defect limited to the membranous ventricular septum) and the potential for left ventricle-to-right atrial communication is increased.

Down Syndrome↗
PubMed1985

Extravascular lung water in children immediately after operative closure of either isolated atrial septal defect or ventricular septal defect.

Extravascular lung water (EVLW) was measured in 16 patients with congenital heart disease by the cold green dye, double indicator dilution technique. Five patients with optimally corrected tetralogy of Fallot served as controls, and EVLW in this group was 4.7 +/- 0.5 ml/kg (111 +/- 13 ml/m2) (mean +/- standard deviation). In 5 asymptomatic patients with atrial septal defect (ASD), normal pulmonary artery (PA) pressure and increased pulmonary blood flow, EVLW was 5.7 +/- 2.8 ml/kg (132 +/- 63 ml/m2), which was not significantly different from the value of control patients. However, in 6 patients with ventricular septal defect, PA hypertension, normal left atrial pressure and an equivalent left-to-right shunt to ASD patients, EVLW was 15.9 +/- 3.8 ml/kg (270 +/- 60 ml/m2). This was significantly different from values in both control and ASD patients (p less than 0.01). It is concluded that in the face of normal pulmonary vascular resistance, PA pressure is transmitted to the microvasculature, causing hydrostatic pulmonary edema. Other factors that may be implicated in the pathogenesis of pulmonary edema, such as increased pulmonary blood flow and relative lymphatic insufficiency in infants, cannot be excluded.

Child↗
PubMed1995

Associated atrial septal defects increase perioperative morbidity after ventricular septal defect repair in infancy.

Although closure of ventricular septal defects (VSDs) is currently associated with a relatively low risk, infants with associated atrial septal defects (ASDs) seem to have a higher perioperative morbidity. To clarify this impression, we reviewed our entire experience (since 1977) with closure of simple VSDs in 163 infants (age, < or = 12 months). Of these, 57 had significant ASDs (ASD-VSD subgroup). Hospital mortality was 3.7% (6/163) overall and 1.4% (2/145) since 1980. Actuarial survival at 10 years was 92% +/- 5%. Significant morbidity occurred in 15.5% (16/103) of the VSD subgroup versus 48.1% (26/54) of the ASD-VSD subgroup (p < or = 0.001). Multivariate analysis identified the presence of multiple VSDs and early date of operation as risk factors for hospital death, and younger age, an associated ASD, the size of the VSD, and use of hypothermic circulatory arrest as risk factors for significant perioperative morbidity. Compared with the VSD subgroup, the ASD-VSD subgroup had a higher hospital mortality (5.3% [3/57] versus 2.8% [3/106]), were younger (5.1 +/- 2.9 versus 7.2 +/- 2.9 months; p = 0.001), had a higher preoperative pulmonary artery pressure (70.2 +/- 19.0 versus 62.7 +/- 21.8 mm Hg; p = 0.08), needed more inotropic support (12.3% versus 3.7%; p = 0.07), needed more prolonged ventilation (3.3 versus 1.8 days; p = 0.02), and had longer postoperative hospital stays (11 versus 8 days; p = 0.005).(ABSTRACT TRUNCATED AT 250 WORDS)

Age Factors↗
PubMed2005

Echocardiographic differentiation of atrioventricular septal defects from inlet ventricular septal defects and mitral valve clefts.

Left ventricular inlet/outlet ratio and percent left atrioventricular valve (AVV) guarded by the posterior leaflet are valuable for characterizing atrioventricular septal defect (AVSD). We performed these measurements echocardiographically in normal patients (n = 101), patients who had AVSD (n = 37), those who had isolated perimembranous inlet ventricular septal defect (VSD; n = 12), and those who had "isolated" mitral valve clefts (n = 5). Surgical findings of 38 patients were reviewed. The normal inlet/outlet ratio was 1.03 +/- 0.07. For patients who had AVSD, the ratio was 0.82 +/- 0.06 (95% confidence interval [CI] 0.180 to 0.237, p = 0.001). For patients who had an isolated inlet VSD, this ratio was lower than that in normal patients (0.93 +/- 0.08, 95% CI 034 to 0.116, p = 0.001) but higher than that in patients who had AVSD (95% CI -0.175 to 0.091, p = 0.001). The percent left AVV guarded by the posterior leaflet was 56 +/- 1.4 in normal patients. For patients who had AVSD, it was significantly lower (43 +/- 1.1). For patients who had an isolated VSD and those who had an isolated mitral cleft, it was normal (57 +/- 1.9 and 55 +/- 2.2, respectively). The 2 measurements are valuable in differentiating AVSD from inlet VSD and isolated mitral cleft, but percent left AVV guarded by the posterior leaflet is more specific.

Chi-Square Distribution↗
PubMed1984

Clinical utility of two-dimensional doppler echocardiographic techniques for estimating pulmonary to systemic blood flow ratios in children with left to right shunting atrial septal defect, ventricular septal defect or patent ductus arteriosus.

Range gated two-dimensional Doppler echocardiographic methods were evaluated for quantifying pulmonary (QP) to systemic (QS) blood flow ratios. Twenty-one patients were studied, 4 with patent ductus arteriosus, 6 with atrial septal defect and 11 with ventricular septal defect. The Doppler pulmonary to systemic flow (QP:QS) estimation method involved calculating volume flow (liters/min) at a variety of intracardiac sites by using imaging information for flow area and Doppler outputs to calculate mean flow velocity as a function of time. Area volume flows were combined to yield QP:QS ratios. The sites sampled were main pulmonary artery, ascending aorta, mitral valve orifice and subpulmonary right ventricular outflow tract. The overall correlation between Doppler QP:QS estimates and those obtained at cardiac catheterization (n = 18) or radionuclide angiography (n = 3) was r = 0.85 (standard error of the estimate = 0.48:1). These preliminary results suggest that clinical application of this Doppler echocardiographic method should allow noninvasive estimation of the magnitude of cardiac shunts.

Adolescent↗
PubMed1991

Natural histories of atrial septal defect with pulmonary hypertension, and ventricular septal defect with pulmonary hypertension.

A study of the natural history of 51 adult patients with atrial septal defect with pulmonary hypertension (ASD + PH) was performed. ASD + PH of less than 14 Um2 of pulmonary artery resistance (PVR) was considered an indication for surgery. The prognosis of surgically treated patients was favorable, but that of medically treated patients was poor. For patients with ventricular septal defect with pulmonary hypertension (VSD + PH), surgery was considered for pulmonary-systemic vascular resistance ratio (Rp/Rs) less than 0.5, and for patients under than 10 years and, ideally, under 2 years of age.

Adult↗
PubMed1977

Pulmonary arterial pressure-flow characteristics in atrial septal defect: comparative study with ventricular septal defect and patent ductus arteriosus.

Pulmonary arterial pressure-flow relation was studied in 142 patients with artrial septal defect (ASD) and was compared with that of 139 patients with ventricular septal defect (VSD) and was compared with that of ductus arteriosus (PDA). The incidence of pulmonary arterial mean pressure (PAm) over 25 mmHg was 21 percent in ASD, 36 percent in VSD and 43 percent in PDA, and that over 40 mmHg was 3 percent, 23 percent and 19 percent, respectively. Large left to right shunt over 50 percent was found more frequently in ASD (58 percent) than in VSD (22 percent) and PDA (30 percent). When patients were separated into 2 groups at a PAm of 40 mmHg, lower pressure group showed a positive correlation between PAm and left-to-right shunt in each disease, although the correlation was poor in ASD (r equals 0.23) as compared with VSD (r equals 0.49) and PDA (r equals 0.47). The slope of the regression line was less steep in ASD (0.08) than in VSD (0.17) and PDA (0.14). It is considered that pulmonary hypertension in ASD develops on the basis of pulmonary vascular changes caused by prolonged hyperkinetic circulation.

Adolescent↗
PubMed2000

[Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case].

The kindred of 38 individuals reported here have various anomalies: 1. facio-thoracic malformations: hypertelorism, nasal deviation, cleft lip and palate, upper-incisors diastema and pectus excavatum; 2. cardiac anomalies: sinus node bradycardia, atrial fibrillation, nodal rhythm, atrial septal defect. Wolff-Parkinson-White syndrome, low insertion of the septal tricuspid valve corresponding to an Ebstein syndrome, pulmonic "en dôme" valve stenosis, aortic valve stenosis, long QT, and intraventricular conduction blocks. Almost all these defects are septal or para-septal. Mitral stenosis is probably rheumatoid. Such median varied pathology has not been yet reported. All the extra-cardiac anomalies are situated along the vertical upper half-body midline. All cardiac anomalies are in the septal or para-septal region. It is an autosomal dominant trait that implies the early embryonic development of the midline of cardiac and extra-cardiac structures.

Abnormalities, Multiple↗
PubMed2002

[Coronary sinus atrial septal defect diagnosed by cyanosis after operation of ventricular septal defect].

We have experienced a case of coronary sinus atrial septal defect (ASD) with ventricular septal defect (VSD). Cardiac catheterization revealed a step-up of oxygen saturation in right ventricle, L-R shunt 70.3%, R-L shunt 6.9% and pulmonary hypertension (PH). Since diagnosis of coronary sinus ASD was difficult, the operation was performed under diagnosis of VSD. Although the operation was success, cyanosis appeared after the operation. Contrast echocardiography using subcostal 4 chamber view showed coronary sinus ASD with a large Thebesian valve and the right-to-left shunt of the ASD. The Thebesian valve seemed to lead the venous return flow to the left atrium. Coronary sinus ASD was closed using a Xenomedica patch.

Cyanosis↗
PubMed2006

[Simultaneous transcatheter therapy for ventricular septal defect combined with atrial septal defect].

OBJECTIVE: To access the possibility, methods and efficacy of simultaneous transcatheter therapy for ventricular septal defect ( VSD ) combined with atrial septal defect (ASD). METHODS: In 68 patients with VSD, four patients ranging from 3 to 24 years old were combined with ASD. The diameters of perimembranous VSD were 2 approximately 10.5 mm, and the diameters of secundum ASD were 4.6 approximately 7 mm under the echocardiography before the operation. Another 4 patients with VSD occluded by left ventriculography: 3 patients were occluded by VSD occluder first, and then occluded by ASD occuder. The other was only occluded by VSD occluder. RESULTS: All VSD was treated successfully at one time in 4 patients. The diameters of VSD occluder were 4, 8, 10, and 16 mm. ASD was occluded successfully at one time in 3 patients. The diameters of ASD occluder were 8, 10, and 10 mm. The successful rate of the operation was 100%. No complication occurred in the operation and follow-up. CONCLUSION: Simultaneous transcatheter closure for VSD combined with ASD is a safe, feasible and effective therapy.

Abnormalities, Multiple↗
PubMed1990

[Noonan syndrome associated with atrial septal defect, ventricular septal defect and pulmonary stenosis--a case report].

A 10 year old girl with diagnosis of Noonan syndrome was admitted to our hospital because of easy fatiguability and cardiac murmur. She had a peculiar face with hypertelorism, saddle nose, webbed neck and kyphosis. Chromosomal analysis demonstrated normal 46 XX pattern. Associated cardiac anomalies in this case were atrial septal defect, ventricular septal defect and pulmonary stenosis caused by pulmonary valvular dysplasia. The cardiac anomalies were corrected successfully and postoperative clinical course was uneventful.

Child↗
PubMed1978

Ventricular septal defect associated with left ventricular outlfow tract obstruction below the defect.

Muscular subaortic stenosis associated with ventricular septal defect (VSD) is a rare but important anomaly. Two types of left ventricular outflow tract (LVOT) obstruction should be distinguished on the basis of morphologic as well as hemodynamic differences, depending on whether the stenosis is localized above (Type I) or below (Type II) the defect. The five cases presented are all in the latter category. In the first two cases the correct diagnosis was not made until after repair of the VSD. Two patients had previously undergone banding of the pulmonary artery (PAB). Marked carotid shudder and a vertical QRS axis in the frontal plane were presented in all cases. For the diagnosis to be established by catheterization, the catheter tip must be maneuvered into the apical part of the left ventricular cavity in order to detect the stenosis on the withdrawal curve. It is difficult to visualize the stenosis by angiography. The surgical approach through the VSD via a right atriotomy is highly recommended for Type II subaortic stenosis.

Angiocardiography↗
PubMed1999

Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder.

We report on a Lebanese family in which 12 persons had an atrial septal defect and various cardiac and noncardiac anomalies. Cardiac anomalies are left axis deviation of QRS, right bundle branch block, atrial fibrillation, Wolff-Parkinson-White syndrome, nodal atrioventricular rhythm, aortic stenosis, pulmonic valve stenosis, mitral stenosis (Lutembacher syndrome), and low implantation of the tricuspid valve (Ebstein disease). Noncardiac abnormalities consisted specially of the presence of hypertelorism, cleft lip, and pectus excavatum. This combination appears to constitute a hitherto undescribed autosomal dominant midline disorder of the heart and upper half of the body with almost full penetrance and variable expressivity. The mutation does not map to any known locus involved in atrial septal defect or conduction block.

Abnormalities, Multiple↗
PubMed1987

X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects.

The association of abdominal situs inversus, complex cardiac defects, and alterations in development of the spleen represents a developmental field complex with variable expression of altered laterality. Familial and inherited cases documenting respectively autosomal recessive and dominant inheritance have been reported. We report on the first family in which X-linked recessive inheritance of this defect has been documented.

Child, Preschool↗