Biomedical subjects
Publications and source records attributed to B Marino.
A newborn baby with the unique combination of Down syndrome and persistent truncus arteriosus with interrupted aortic arch is described. The diagnosis of trisomy 21 was assessed 38 years after the patient's death by means of fluorescent in situ hybridization.
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Mitral valve replacement in severe annular calcification may be complicated by atrioventricular rupture, left circumflex coronary artery injury, and thromboembolic events. Mitral valve replacement was performed in 2 patients with massive annular calcification, by suturing a Tissucol fibrin glue-treated Teflon patch on the posterolateral atrial wall. After 30 and 34 months, respectively, the valve was normally functioning and the patients were asymptomatic and free from hemorrhagic and thromboembolic events.
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OBJECTIVE: The aim of the present study was to evaluate early and late results of two different surgical techniques for left ventricular aneurysms repair. The conventional aneurysmectomy and direct closure of the ventricular wall and the endoventricular patch plasty. METHODS: We retrospectively reviewed 118 patients operated on for postinfarction left ventricular aneurysm from 1981 to 1994. Eighty-seven patients (Group A) were operated upon between 1981 and 1991 with the conventional technique and 31 patients (Group B) between 1992 and 1994 with the endoventricular patch plasty technique. Preoperative clinical, hemodynamic and echocardiographic evaluation with operative procedures and early postoperative results of all patients are reported. We also analyzed results of late clinical and echocardiographic controls of 34 patients of Group A and all patients of Group B after a mean follow-up of 42 and 28 months, respectively. RESULTS: Mean number of by-pass grafts was 1.9 in Group A and 2.6 in Group B (P = 0.01). The left anterior descending coronary artery was revascularized in 27 patients of Group A (34.6%) and 26 of Group B (89.7%) (P < 0.001); the left internal mammary artery was used in seven patients of Group A (8.9%) and 24 of Group B (82.8%) (P < 0.001). Hospital mortality in Group A was 10.3% (9/87), in Group B there was no hospital mortality (P > 0.05). Thirty-two patients of Group A (36.8%) and 3 of Group B (9.7%) suffered of low cardiac output syndrome (P = 0.01). At late control, improvements observed in NYHA and CCS classes, left ventricular ejection fraction (all P < 0.001 in both groups versus preoperative values) and left ventricular end-diastolic diameter (P > 0.05 in Group A and P < 0.001 in Group B) proved to be statistically higher in patients of Group B. CONCLUSIONS: Endoventricular patch plasty associated with a complete myocardial revascularization, in particular of the anterior descending coronary, and a larger use of the internal mammary artery, permits, by means of reconstruction of the left ventricular geometry, a better outcome for patients undergoing left ventricular aneurysmectomy.
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The CATCH 22 acronym outlines the main clinical features of 22q11.2 deletions (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia), usually found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. Hemizygosity of this region may also be the cause of over 100 different clinical signs. The CATCH 22 locus maps within a 1.5 Mb region, which encompasses several genes. However, no single defect in 22q11.2 hemizygous patients can be ascribed to any gene so far isolated from the critical region of deletion. We have identified a gene in the CATCH 22 critical region, whose functional features and tissue-specific expression suggest a distinct role in embryogenesis. This gene, UFD1L, encodes the human homolog of the yeast ubiquitin fusion degradation 1 protein (UFD1p), involved in the degradation of ubiquitin fusion proteins. Cloning and characterization of the murine homolog (Ufd1l) showed it to be expressed during embryogenesis in the eyes and in the linear ear primordia. These data suggest that the proteolytic pathway that recognizes ubiquitin fusion proteins for degradation is conserved in vertebrates and that the UFD1L gene hemizygosity is the cause of some of the CATCH 22-associated developmental defects.
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We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but a correlation between the single descriptions has never been noted. CTHDs are included among the cardiac malformations characteristically associated with the group of syndromes caused by the microdeletion of chromosome 22q11, but no detectable hemizygosity has been found in our family. An autosomal recessive gene seems to be involved in syndromic patients with the combination of CTHD and microphthalmia. The map location of this gene is at present unknown, but autosomal recessive inheritance must be considered in genetic counselling of families with children presenting with this malformation complex.
We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findings described in the CHARGE and VACTERL associations. To our knowledge, the present case is the first report of radial aplasia in del22q11. This observation further supports and extends the clinical variability of del22q11.
Isolated tetralogy of Fallot (TF) has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5-3% have been attributed to first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected. Microdeletion 22q11 (del(22q11)) can cause TF in the setting of DiGeorge and velocardiofacial syndromes, and has also been related to familial conotruncal cardiac defects. Empirical risk figures in families after exclusion of del(22q11) have never been calculated. We have investigated the overall occurrence of congenital heart defect (CHD) in relatives of 102 patients with isolated non-syndromic TF previously screened for del(22q11). Our results show that the frequency of CHD is 3% in sibs, 0.5% in parents, 0.3% in grandparents, 0.2% in uncles or aunts, and 0.6% in first cousins. The recurrence risk rate for sibs in our series is the same as that previously estimated, indicating that after exclusion of patients with del(22q11) genetic counselling to patients with isolated TF should not be modified. A high concordance rate among our affected sibs has been documented. Gene(s) different from those located on chromosome 22q11 must be involved in causing familial aggregation of non-syndromic TF in these cases.
Because of the limitations resulting from the severity of heart failure, patients in the waiting list for cardiac transplantation often show a worsening in their social life. They usually present with psychological problems caused by symptoms, medical or surgical therapies and consequences on their own work. We have devised and utilized an experimental psychodiagnostic protocol to study the psychological characteristics of a sample of patients with heart failure (NYHA functional class III and IV) candidate to heart transplantation. Our study was particularly aimed at investigating the quality of life and the psychological mechanisms of adaptation. Findings show a strong attempt of denying the discomfort deriving from the disease and the expectation for transplant. Patients seem to have an adequate reaction to the illness and, otherwise, they feel anxiety and trouble that make very fragile their psychological adaptation. This behaviour is probably correlated with symptoms and the clinical history of heart failure, and does not match with a visible state of well-being that can be detected with a superficial analysis. Nevertheless patients have a good availability in receiving a psychological support from the whole medical staff (physicians, nurses): this suggests that the benefits deriving from a contemporary medical and psychological therapy are able to prevent the appearance of clear psychiatric symptoms. Additional studies involving larger samples of selected populations are needed to confirm the results of the present investigation.
This trial evaluated whether the intravenous injection of an ultrasound contrast agent (Infoson) facilitates the assessment of systolic function in 40 low-echogenic patients undergoing low-dose (4 mcg/kg/min) dopamine echocardiography. Interobserver difference in calculated ejection fraction at entry was > 10%. Echocardiographic monitoring was performed in the apical 4-chamber view at four intervals: baseline, no contrast; first Infoson injection; dopamine infusion, no contrast; dopamine infusion+second Infoson injection. The left ventricle was divided into 5 segments and analysis was performed by two blinded observers. Wall motion abnormalities, ejection fraction and the confidence in detecting the endocardial border, were assessed. Infoson provided adequate left ventricular opacification in 90% of the injections, with a significant improvement in endocardial border detection. The interobserver variability of ejection fraction measurements was significantly reduced. The probability of attaining concordance between the investigators on wall motion assessment improved significantly. These results suggest potential applications in stress echocardiography.
This study was performed in order to define who are the "non-dippers", knowing that their present definition does not imply any explanation about the mechanisms. The investigation was performed on 34 heart transplanted patients, 28 males (mean age 52 +/- 11 years) and 6 women (mean age 35 +/- 14 years), knowing that the "non-dippers" were described as the hypertensives who are devoid of the expected nocturnal fall in blood pressure (BP). The "non-dipping" phenomenon was investigated by exploring the BP 24-h pattern via ambulatory non-invasive BP monitoring, and by applying the rhythmometric analysis for quantifying the BP circadian rhythm. The study provided evidence that the "non-dippers" can be found among the hypertensives as well as the normotensives, suggesting that high BP is not a necessary condition for the "non-dipping" phenomenon, and vice versa. Both the normotensive and hypertensive "non-dippers" were seen to show stereotypic changes in BP circadian rhythm. There are normotensive and hypertensive "non-dippers" with or without the BP circadian rhythm. The "rhythmic non-dippers" show a BP circadian rhythm which is inverted in phase or demodulated in amplitude. The "non-dippers" are, thus, a heterogeneous category.
Two-dimensional echocardiography allows to evaluate the effect of myocardial ischemia on left ventricular wall motion, but a direct measure of coronary flow by this method is still lacking. The aim of the present study was to evaluate the efficacy of a new, high-resolution echocardiographic equipment designed to image the epicardial and intramural coronary vessels by non directional Doppler. We studied 33 consecutive patients by transthoracic echocardiography in apical projections, to detect one or more segments of the left anterior descending coronary artery by non directional Doppler. Once the coronary artery has been imaged, pulsed Doppler was used to measure coronary blood flow velocity at rest. Peak and mean flow velocities were measured on the diastolic phase of the Doppler spectrum. In 25/33 patients (75.7%) the middle-distal tract of the left anterior descending coronary artery was imaged by non directional Doppler. In 15/33 patients (45.5%) the periapical tract of the left anterior descending coronary artery was imaged along with its perforating branches. In 2 out of 4 patients operated of coronary artery bypass grafting, the anastomosis between the left internal mammary artery and the left anterior descending coronary artery was imaged. In all 25 patients it was possible to measure by pulsed Doppler the coronary velocity flow pattern, characterized by a typical prevalent diastolic component. Peak diastolic flow velocity was 49.98 +/- 17.30 cm/s and mean diastolic flow velocity was 36.52 +/- 11.91 cm/s. The Doppler pattern of the grafted mammary artery was different from the native mammary flow. This new non invasive imaging technique of the coronary arteries promises to expand the field of diagnostic and experimental echocardiography and brings new insight into the pathophysiology of ischemic heart disease.
The multicenter OP-RISK study, developed during 1994-96, was aimed at: 1) investigating early (28 days) death rates following aortocoronary bypass surgery among patients recruited from four Centers representing geographical distribution in Italy; 2) defining possible risk factors for early mortality, also comparing these factors with those reported in previous studies. Average values are reported and compared of 65 variables (36 preoperative, 10 operative and 19 postoperative) out of 984 patients subdivided into alive (n = 940) or dead (n = 44, 4.47%) at 28 days (155 +/- 174 hours, interval between 12 and 576 hours) postoperatively. Causes of death were cardiac in 37 (77%), pulmonary in 3 (0.7%), vascular in 2 (0.5%) and infective in 2(0.5%) patients, respectively. During the study a total of 1126 patients were operated upon in the collaborative Centers with the diagnosis of coronary artery disease and 51 deaths were reported officially in-hospital (4.53%). Therefore, OP-RISK data represent 87% of overall patients and a superposable death rate. The potential role as risk factors of early mortality was assessed univariately for 17 preoperative, 5 operative (in 3 cases for the first time) and 5 postoperative factors. In general, it was confirmed that factors defining left ventricular function are sensitive predictors of mortality. In OP-RISK we were able to show, in addition, that tachycardia (> 130 b/min) at induction of anesthesia, and total time of anesthesia, cardiopulmonary bypass and aortic cross clamping may be significant factors among operative variables as might be among postoperative ones several arrhythmia types or a lower rate in antithrombotic therapy with aspirin at 6-12 hours postoperatively. The protective role of bypass surgery performed with at least 1 arterial segment was also ascertained. Most of these potential factors were significantly related to outcome (either directly or inversely) as were among them, as seen in a subsample (65%) of 639 patients in whom a correlation matrix was performed among 16 factors selected on the basis of the common denominator principle. Our results suggest that it is possible to collect in a multicenter experience univariate predictors of early mortality following aortocoronary bypass surgery in Italy, which are not different from those reported from previous studies performed abroad. Operative indicators may also have predictive capabilities. The effort may be worthwhile and demands further cooperative studies to be undertaken, aimed at obtaining nationwide coefficients of risk along with representative average values of factors that soon might emerge once multivariate statistics will be performed on this material.
Our results confirm that classic TF can be associated with many genetic conditions, but most patients are nonsyndromic. In contrast, children with TF-PA have a high incidence of genetic syndromes, particularly those related to CATCH22 syndrome.