Familial recurrence of transposition of the great arteries.
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Biomedical subjects
Publications and source records attributed to B Marino.
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Left ventricular systolic function was evaluated by echo-Doppler in 22 Down syndrome patients without congenital heart disease. Although they had evident left ventricular hyperkinesia, this did not appear to reflect intrinsic abnormalities of myocardial properties but a reduced afterload.
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In order to predict tissue viability in infarcted myocardial areas, changes induced by nitroglycerine infusion on Sestamibi myocardial uptake were evaluated in 37 patients with previously confirmed myocardial infarction undergoing coronary artery bypass grafting, and compared with echocardiographic and perfusional changes occurring after the operation. The improvement of Sestamibi uptake after nitroglycerine correctly classified 24/26 (92%) patients showing postoperative improvement of wall motion in the infarcted area, whereas 24/31 (77%) patients with nitroglycerine-induced increase in Sestamibi uptake had improved wall motion after operation. The presence of collateral flow to the infarcted area was associated with a significantly (P < 0.01) higher increase in Sestamibi uptake both during nitroglycerine infusion and postoperatively. An increase in wall motion score after operation was associated with a significantly higher (P < 0.05) increase in Sestamibi uptake score during nitroglycerine infusion. Thus, the results of this study suggest that Sestamibi perfusional myocardial scintigraphy during nitroglycerine infusion is capable of assessing viable but chronically hypoperfused myocardium and predicting postoperative wall motion and perfusional improvement, to yield the best results in patients with evidence of collateral circulation that supplies the infarcted area.
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BACKGROUND: The deletion (D) allele of the angiotensin-converting enzyme (ACE) gene has been proposed as a genetic marker of the risk of ischaemic heart disease. However, the relationships between ACE genotypes, the development of coronary atherosclerosis and the occurrence of major coronary events are still controversial. METHODS: To investigate whether the ACE I/D (insertion/deletion) polymorphism predicts the risk of coronary stenosis and myocardial infarction (MI), ACE genotypes were determined in 394 consecutive patients who underwent coronary angiography. The presence determined in 394 consecutive patients who underwent coronary angiography. The presence of coronary artery disease (CAD) (defined by > 50% stenosis) was detected in 236 patients (CAD+); 85 of these individuals had a history of MI. Patients with coronary stenosis < 10% (n = 158) served as controls (CAD-). ACE genotypes were determined by agarose gel sizing after polymerase chain reaction (PCR) amplification. RESULTS: The distribution of ACE genotypes in CAD+ patients was not significantly different from that in CAD-patients (chi 2 = 2.63, P < 0.27). After controlling for other coronary risk factors, no significant increase in risk of CAD or MI was found to be associated with the D allele, regardless of whether the D allele was assumed to have a dominant, a codominant or a recessive effect. Similar results were observed in CAD+ patients at lower risk because of low body mass index and apolipoprotein B concentrations. Smoking, apolipoprotein B and history of hypertension were found to be independent predictors of CAD and MI. CONCLUSION: Our study did not provide evidence of a significant association between ACE genotypes and the development of coronary atherosclerosis. It also failed to support a role of ACE I/D polymorphism in favouring the conversion of coronary stenosis to MI.
We report a case of myocardial infarction after mitral valve replacement occurring in a patient with the left cyrcumflex coronary artery arising from the right one. The patient underwent mitral valve replacement with a size 27 Carbomedics prosthesis and a tricuspidal annuloplasty was performed according to the De Vega technique. Patient died on the 20th postoperative day.
The internal mammary artery is routinely used for coronary artery bypass grafting because of its optimal long-term patency profile. This vessel can be imaged by angiography, but only the proximal tract at the origin from the succlavian artery can be imaged by conventional echography. The aim of our study was to visualize the intrathoracic course of the native and grafted internal mammary arteries by a new ultrasound equipment which allows high-resolution transthoracic color Doppler imaging of the chest wall vessels and coronary arteries. We studied 35 patients, 16 non operated and 19 operated of coronary surgery with the internal mammary artery grafted to the left anterior descending coronary artery. We used a multifrequency 3.5-7 MHz transducer with a small insonating surface, placed at the second-fifth intercostal space at the left and right sternal border, to image the native mammary arteries. The grafted mammary artery was detected at the fourth-fifth left intercostal space 2-4 cm lateral to the sternal border. The native left internal mammary artery was visualized in all 16 non operated patients, and the right internal mammary artery in 14/16 (87%). The native left internal mammary artery peak flow velocity was 41-160 cm/s (mean 81 +/- 34 cm/s), and the mean flow velocity was 28-89 cm/s (mean 45 +/- 17 cm/s). The right internal mammary artery peak flow velocity was 35-153 cm/s (mean 82 +/- 36 cm/s), and mean flow velocity was 21-82 cm/s (mean 46 +/- 22 cm/s). The grafted left internal mammary artery was visualized in 16/19 patients (84%), evaluated at 6 days to 36 months after surgery. Peak diastolic flow velocity ranged from 24 to 80 cm/s (mean 48 +/- 17 cm/s), and mean diastolic flow velocity ranged from 13 to 57 cm/s (mean 33 +/- 11 cm/s). The left anterior descending peak flow velocity distal to the anastomosis was 22-62 cm/s (mean 37 +/- 15 cm/s) and mean flow velocity was 18-53 cm/s (mean 29 +/- 12 cm/s). We conclude that transthoracic color Doppler echocardiography allows to image the native and grafted mammary arteries, with potential clinical applications in the management of patients with coronary artery disease.
Cardiopulmonary bypass (CPB) is associated with impaired platelet function and a systemic inflammatory response. The present study was designed to evaluate whether any correlation between platelet activation and inflammatory response during CPB exists. The results obtained from 8 patients undergoing hypothermic CPB for cardiac surgery showed the occurrence of a moderate degree of platelet activation during CPB, demonstrated by an increase of platelet CD62P expression in correlation with an increase of beta-thromboglobulin levels, with a concomitant decrease of in vitro platelet response. Plasma IL-1beta levels significantly increased during CPB, with a peak between 1 and 4 h after CPB. Similarly, IL-6 levels were elevated 30 min from CPB starting, peaked at 4 h, and remained elevated after 24 h. A direct correlation was found between plasma IL-1beta and IL-6 levels. A significant correlation between plasma IL-1beta and beta-thromboglobulin levels was also found. In turn, plasma beta-thromboglobulin levels correlated with CD62P expression on activated platelets. An inverse correlation was found between in vitro platelet aggregation and plasma IL-1beta or IL-6 levels. From the present results it may be speculated that platelet activation during CPB may contribute, through the release of IL-1beta, to activation of endothelial cells and subsequent release of other cytokines with chemotactic and pro-inflammatory properties, thus playing an important role in the inflammatory response associated with CPB.
We report on the occurrence of Pfeiffer-type cardiocranial syndrome in a brother and sister born to unaffected parents. The cardinal manifestations of the syndrome are congenital heart defect, sagittal craniosynostosis, genital anomalies, and mental and growth retardation. The craniosynostosis was present in only one of the sibs, suggesting intrafamilial variability of the syndrome. The clinical spectrum of cardiocranial syndrome is further expanded by the inclusion of renal, joint, and palpebral abnormalities detected in our patients. The occurrence of the syndrome in a brother-sister sib pair supports the hypothesis of an autosomal-recessive inheritance.
We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.
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The knowledge of echocardiographic pitfalls, which may impair the correct indication for surgery of aortic coarctation, is of great importance to pediatric cardiologists. We believe that only the suspicion of coronary artery anomalies is a clear indication to perform a cardiac catherization.
Tricuspid atresia has not been reported in 22q11 microdeletions causing DiGeorge and velo-cardio-facial syndromes. We investigated the prevalence of 22q11 hemizygosity in 26 children with tricuspid atresia. Fluorescent hybridization with the Sc11.1 probe demonstrated a 22q11 microdeletion in 2 patients, one with and another without transposition of the great arteries. Both deletion patients had minor facial anomalies characteristic of DiGeorge syndrome. The present observations suggest that tricuspid atresia should be included in the list of cardiac malformations seen in del22q11 syndromes.
The present study provides evidence that interleukin (IL)-6 and IL-8 are the main endogenous mediators of acute phase response in patients with myocardial infarction. This conclusion was supported by the observation of a strict relation between IL-6 elevation and the extent of myocardial tissue damage and rise in body temperature.
Between 1989 and 1995, 96 consecutive infants affected by isolated ventricular septal defect (VSD) were submitted for primary correction at a median age of 4 months. Of the 96, 60 (group I) underwent surgery on the base of a 2-dimensional Doppler echocardiographic (DD echo) test alone. The preoperative DD echo anatomic definition of the type of VSD was confirmed at surgery in all 60 patients without false-positive results in terms of additional cardiac anomalies. There were 2 false-negatives: in 2 patients an associated cardiac anomaly was not detected by DD echo and required a second surgical procedure after postoperative cardiac catheterization. During the same period 36 infants (group II) underwent surgical closure of isolated VSD on the basis of cardiac catheterization and angiocardiography in addition to DD echo. The retrospective comparison between the 2 groups revealed no significant difference in terms of sensitivity and specificity of the diagnostic tools, early and late mortality after surgical correction, postoperative hospital stay, and need for late cardiac catheterization and surgery. We conclude that after an accurate selection, most of the infants with uncomplicated VSD can safely undergo primary repair on the basis of DD echo alone.