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Biomedical subjects

Giuseppe Pacileo

Publications and source records attributed to Giuseppe Pacileo.

At least 37 records · Page 2Linked to original sources
PubMed2005

Quantification of regional left and right ventricular longitudinal function in 75 normal fetuses using ultrasound-based strain rate and strain imaging.

Previous reports have demonstrated that myocardial velocities are not sufficiently sensitive in fetal heart studies. Strain (S) and strain rate (SR) imaging is a new noninvasive ultrasonic technique able to quantify regional myocardial deformation properties. SR imaging has a superior sensitivity than myocardial velocity for noninvasive assessment of ventricular function, but this technique has not been used in the fetal heart. Our aim was to evaluate the feasibility of S/SR imaging in the fetal heart and to study characteristics of myocardial deformation properties and their changes with the gestational age in healthy fetuses. We studied 75 normal fetuses (weeks gestation 25 +/- 4, no evidence of structural cardiovascular disease by 2-D echo and Doppler study) using S/SR imaging. Left (LV) and right ventricle (RV) peak myocardial systolic, early diastolic and SR values during atrial contraction were obtained but, for S, we measured only peak systolic values. The sample volume was placed in the mid-segment of LV septal, lateral and RV free wall. S and SR curves were obtained in all the studied population. Peak longitudinal systolic deformation was homogeneous in all the walls studied. Moreover, fetal myocardial S and SR during diastole were characterized by a higher deformation during atrial contraction than during early filling. Peak systolic and peak diastolic ratios of regional myocardial deformation properties significantly correlated with the gestational age. Inter- and intraobserver variabilities for S and SR parameters were < 15%, < 18% and < 13%, < 15%, respectively. SR imaging is feasible in selected healthy fetuses, with a limited reproducibility; we presented normal values for the fetal heart; S/SR during fetal life are homogeneous in both LV and RV; and longitudinal myocardial deformation properties increase with the gestational age.

Echocardiography, Doppler, Color↗
PubMed2005

[New echocardiographic techniques in the study of coronary artery disease: strain and strain rate].

Strain/strain rate are a new echocardiographic technique able to quantify regional myocardial deformation. Since myocardial velocity, obtained by standard tissue Doppler, is affected by global heart motion, cardiac rotation and influence from velocities in other segments, strain/strain rate have been introduced to measure regional shortening fraction and shortening rate, respectively. The present review discusses the most recent developments in the application of strain/strain rate in coronary artery disease.

Coronary Disease↗
PubMed2005

[Quantitative evaluation of regional myocardial function using strain and strain rate imaging: normal values in pediatric age].

BACKGROUND: Based on color Doppler methodology, regional myocardial strain rate (SR) and strain (epsilon) can now be calculated by comparing local myocardial velocity profiles. These deformation data sets may be an important new approach to quantify regional function of the left or right ventricle in congenital heart disease. The aim of the present study was to provide normal value for epsilon and SR in pediatric age. METHODS: We studied 45 healthy subjects (25 males, 20 females, mean age 11 +/- 6 years, range 4-16 years). For each subject we measured regional peak systolic, early and late diastolic E and SR. RESULTS: Left ventricular (LV) longitudinal deformations were homogeneous for LV basal, mid and apical segments (peak systolic SR -1.9 +/- 0.7 s(-1), systolic epsilon -24 +/- 8%). Longitudinal SR and epsilon values were significantly higher in the right ventricle, compared with LV walls, and were maximal in the mid part of the right ventricle free wall (peak systolic SR -3.4 +/- 0.9 s(-1), systolic epsilon -35 +/- 5%). The LV systolic and diastolic SR and epsilon values were higher for deformations in the radial direction compared with the longitudinal direction [radial peak systolic epsilon 55 +/- 6% vs longitudinal peak systolic epsilon (-)24 +/- 8%, p < 0.0001; radial peak early diastolic epsilon (-)40 +/- 15% vs longitudinal peak early diastolic epsilon 17.22 +/- 7%, p < 0.0001; radial peak systolic SR 2.7 +/- 0.5 s(-1) vs longitudinal peak systolic SR (-)1.9 +/- 0.7 s(-1); radial peak early diastolic SR (-)6.2 +/- 1.5 s(-1) vs longitudinal peak early diastolic SR 2.24 +/- 1.2 s(-1), p < 0.0001]. CONCLUSIONS: This study provides normal values for epsilon/SR in the largest published series of normal healthy children using a high frame rate (> or = 200 frames/s) and a commercially available software.

Adolescent↗
PubMed2005

Impact of pulmonary regurgitation and age at surgical repair on textural and functional right ventricular myocardial properties in patients with tetralogy of Fallot.

BACKGROUND: The aim of this study was to identify non-invasively the potential impact of pulmonary regurgitation and age at surgical repair on the right ventricular (RV) textural and functional myocardial properties in patients operated on for tetralogy of Fallot (TOF). METHODS: We assessed the average intensity (Int.(1B)) and the cyclic variation (CV(IB)) of the echocardiographic backscatter curve in 30 TOF patients (mean age 16.2 +/- 8.3 years), who had undergone corrective surgery (mean age at repair 3.2 +/- 2.6 years, range 0.2-11 years). They were divided into three age- and body surface area (BSA)-matched subgroups according to the results of the surgical repair: 12 patients had no significant postsurgical sequelae (group I), 12 patients had isolated moderate-severe pulmonary regurgitation (group II), and 6 patients had pulmonary regurgitation associated with significant (> 30 mmHg) RV outflow tract obstruction (group III). In addition, 30 age-, sex- and BSA-matched normal subjects were identified as the control group. RESULTS: In our study population, CV(IB) was lower (7.86 +/- 2.5 vs 10.6 +/- 1.4 dB, p < 0.001) and Int.IB higher (-18.6 +/- 4.1 vs -21 +/- 2.8 dB, p = 0.01) compared to the control group. Comparison between the control group and each subgroup of TOF patients showed: a) comparable values of CV(IB) and Int.(IB) in group I (10.6 +/- 1.4 vs 9.4 +/- 2.3 dB, p = 0.07; and -21 +/- 2.8 vs -21.4 +/- 2.3 dB, p = 0.7, respectively); b) Int.(IB) was significantly different only in group III (-21 +/- 2.8 vs -13.3 +/- 4.6 dB, p < 0.0001), c) CV(IB) was different either in group II or III (10.6 +/- 1.4 vs 7.42 +/- 2, p < 0.001; and 10.6 +/- 1.4 vs 5.56 +/- 1.8, p < 0.001, respectively). In addition, comparison of integrated backscatter indexes among the TOF subgroups revealed significant differences of CV(IB) between group I and II (9.4 +/- 2.4 vs 7.4 +/- 2, p = 0.03) and between group I and III (9.4 +/- 2.4 vs 5.56 +/- 1.8, p = 0.004), and of Int.(IB) between group I and III (-21.4 +/- 2.3 vs -13.3 +/- 4.66, p < 0.001) and between group II and III (-21.4 +/- 2.3 vs -18.6 +/- 2.8, p = 0.006). Group III patients, who had the most significant RV dilation, expressed as the ratio between RV and left ventricular end-diastolic diameter (0.55 +/- 0.8) compared to group II (0.67 +/- 0.11, p = 0.038) and group I (0.55 +/- 0.87, p < 0.001), showed the lowest values of CV(IB) (5.56 +/- 1.8 dB) and the highest values of Int.(IB) (-13.3 +/- 4.6 dB) Finally, in our study population, both the degree of RV dilation and the age at surgical repair significantly correlated with Int.(IB) (r = 0.49 and r = 0.4, p = 0.06 and p = 0.033, respectively) and inversely correlated with CV(IB) (r = -0.55 and r = -0.53, p = 0.002 and p = 0.003, respectively). CONCLUSIONS: In patients operated on for TOF: a) integrated backscatter analysis may identify patients with significant RV myocardial abnormalities related to postsurgical sequelae; b) residual pulmonary regurgitation, particularly if associated with pulmonary stenosis, appears to affect RV myocardial properties; c) an earlier repair of TOF may result in better preservation of myocardial characteristics.

Adolescent↗
PubMed2005

[Isolated left ventricular non-compaction].

Isolated left ventricular noncompaction is a genetically heterogeneous congenital disorder characterized by an altered structure of the myocardial wall. This cardiomyopathy is thought to be due to an arrest of intrauterine compaction of the myocardial fibers in the absence of any other structural heart disease. Noncompaction of the left ventricular myocardium is an uncommon finding and remains frequently overlooked even by experienced echocardiographers. However, a correct diagnosis of noncompaction has important implications due to the possible association with other cardiac abnormalities and/or muscle disorders, progressive left ventricular dysfunction, risk of thromboembolism, and life-threatening arrhythmias. Furthermore, because of the familial association described with ventricular noncompaction, screening with echocardiography of first relatives is recommended. Since echocardiography is the diagnostic technique of choice, missed diagnoses may be due to nonoptimal imaging of the lateral and apical myocardium, and/or insufficient disease awareness by echocardiographers. To increase awareness of left ventricular noncompaction, the present paper reviews embryology, genetics, clinical features and pathophysiology, diagnosis, treatment and prognosis of patients affected by isolated left ventricular noncompaction.

Adolescent↗
PubMed2004

Endothelial cell function in patients with Down's syndrome.

Patients with Down's syndrome show an increased pulmonary vascular reactivity that could be due to an impaired vascular endothelial function, which is possibly related to increased oxidative stress. In 8 patients with Down's syndrome and 9 euploid patients of similar age, endothelium-dependent and -independent vasodilation was studied, measuring brachial flow velocity with an intravascular Doppler flow wire. Patients with Down's syndrome showed a significant impairment of endothelial function versus controls. In presence of the antioxidant vitamin C, endothelium-dependent vasodilation in the patients with Down's syndrome was only slightly, but not significantly, improved.

Acetylcholine↗
PubMed2004

Early electrical and geometric changes after percutaneous closure of large atrial septal defect.

Cardiac arrhythmias and right chamber enlargement are well known long-term sequelae of atrial septal defect (ASD). Surgical ASD closure relieves patient symptoms but often fails to revert cardiac volume overload findings. Transcatheter ASD closure might be an attractive alternative to surgery, also because of the possibility to study the amount and time-course of the electro-geometric modifications following shunt disappearance. Between March 2000 and December 2002, 24 patients (age 22.7 +16.8 years) underwent percutaneous closure of large ASD (stretched diameter >20 mm and/or QP/QS ratio >1.5:1). ASD closure was performed with the Amplatzer Septal Occluder device (mean 25 +/- 7 mm), achieving a complete occlusion in all patients at 1 month. In 6 patients, right ventricular (RV) monophasic action potential was recorded during the procedure. All patients underwent standard 12-lead electrocardiography and transthoracic echocardiography before and at 24 hours and 1 month after ASD closure. After the procedure, monophasic action potential length increased from 359 +/- 27 to 372 +/- 27 ms (p <0.0001). At 1 month, QT dispersion decreased from 54 +/- 25 to 41 +/- 17 ms (p <0.05), RV diastolic diameter decreased from 42 +/- 6 to 34 +/- 5 mm (p <0.00001), and left ventricular (LV) diastolic diameter increased from 39 +/- 5 to 44 +/- 5 mm (p <0.0001), resulting in a decrease in the RV/LV ratio from 1.11 +/- 0.22 to 0.79 +/- 0.11 (-28.8%, p <0.00001). Electrocardiographic changes, as well as the amount and time-course of RV overload relief, did not significantly differ between pediatric (<16 years of age; n = 11) and adult patients (n = 13). In conclusion, regardless of age at procedure, percutaneous ASD closure results in early striking electrical and geometric cardiac changes that may be beneficial during long-term follow-up.

Action Potentials↗
PubMed2004

Backscatter evaluation of myocardial functional and textural findings in children with right ventricular pressure and/or volume overload.

Integrated backscatter (IBS) analysis represents a recent echocardiographic technique for evaluating the textural and functional state of the right ventricular (RV) myocardium. We undertook our study to (1) define the potential impact of age or morphometric parameters (height, weight, and body surface area) on RV IBS indexes, and (2) compare RV IBS data among normal subjects and children with different conditions of RV overload. We studied 34 patients (mean age 14.6 +/- 4.7 years) divided into 3 groups: 14 patients with RV volume overload related to moderate to large atrial septal defect (group I); (2) 10 patients with RV pressure overload due to transposition of the great arteries after the Mustard procedure (group II); and (3) 10 patients with RV volume and pressure overload due to pulmonary regurgitation and stenosis after corrective surgery for tetralogy of Fallot (group III). In addition, 20 children with structurally normal hearts were enrolled as the control group. The 4 groups were comparable with regard to age and morphometric parameters. IBS parameters were assessed as the magnitude of cyclic variation, determined as the difference between peak and nadir IBS values and the averaged myocardial IBS intensity. In the control group and group I, IBS parameters did not change significantly with age, height, weight, and body surface area. In contrast, in groups II and III, a significant correlation was found between cyclic variation and age at the study (p = 0.021, r = -0.71, and p = 0.006, r = -0.79, respectively). Furthermore, compared with the control group, cyclic variation and IBS intensity were significantly different only in groups II (p = 0.01 and p = 0.006, respectively) and III (both p <0.0001) but not in group I (p = 0.23 and p = 0.38, respectively). The lowest values of cyclic variation and the highest values of intensity were detected in group III patients. Thus, our data suggest that (1) in normal subjects, there is no correlation between RV IBS indexes and age or any morphometric parameters, and (2) IBS analysis is able to noninvasively detect differences in myocardial functional and textural properties in the presence of different conditions of RV overload.

Adolescent↗
PubMed2004

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

BACKGROUND: Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically associated with HCM. Additional features of the syndrome include multiple lentigines, facial anomalies, sensorineural deafness, and growth retardation. Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome. CASES: We report here on a patient with HCM presenting with classic clinical features of LEOPARD syndrome, whose father also has HCM, but lacks phenotypic anomalies of the syndrome. Molecular analysis searching for PTPN11 mutations was performed in this family. A missense mutation (836A-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in the patient with LEOPARD syndrome, whereas no mutation in PTPN11 gene was detected in the father or in additional family members. CONCLUSIONS: Aggregation of syndromic and nonsyndromic HCM in the same family is an unusual pattern of recurrence. Although genetic heterogeneity of LEOPARD and nonsyndromic HCM is not disputed, the existence of peculiar interactions linking genes causing nonsyndromic HCM and HCM in LEOPARD syndrome can be hypothesized. Different genes can work together, and a more severe cardiac phenotype can be due to additive effects. The involvement of familial susceptibility to specific cardiac malformations based on the presence of common predisposing factors can also be considered. Further molecular studies may shed light on these observations.

Adult↗
PubMed2004

Fetal supraventricular tachycardia diagnosed and treated at twenty-four weeks of gestation and after birth: a case report.

Supraventricular tachycardia is the most common clinically significant fetal tachycardia. The diagnosis is usually made at routine sonographic workup during the second-third trimester of pregnancy. Treatment goals are cardioversion to sinus rhythm and reversal of cardiac dysfunction. We describe a case of fetal supraventricular tachycardia diagnosed at 24 weeks of gestation. The first-line treatment was oral maternal digoxin and sotalol. This therapy was not sufficient for complete control of the tachycardia. Hence, second-line treatment with digoxin and flecainide was started and successfully achieved conversion to sinus rhythm. No adverse maternal side effects were noted during the 14 weeks of therapy. A normal male infant was delivered at elective cesarean section performed for obstetric indications at 38 weeks of gestation. A persistent junctional reciprocating tachycardia with a ventriculo-atrial/atrioventricular ratio > 1 was diagnosed following delivery at transesophageal electrophysiological study. At the age of 8 months the child is on therapy with sotalol (4 mg/kg/day) and flecainide (3 mg/kg/day) and is in good clinical conditions.

Adult↗
PubMed2003

Nonpharmacologic care of heart failure: patient, family, and hospital organization.

Patients with severe heart failure require large quantities of health care resources, and more intensive interventions are not always related to a decrease in need for medical care, including hospitalization. A thoughtful approach to the efficient and expeditious allocation of these resources is required. In fact, the nonpharmacologic therapy of patients with chronic congestive heart failure (CHF) has to include the complete explanation of various topics, such as causes of heart failure, symptoms, diet, salt and fluid restriction, drug regimen, compliance, physical and work activities, lifestyle changes, and measures of self-control. This article describes how the relationship among patient, family, friends, and different heart-care workers (physicians, nurses, psychologists, rehabilitation technicians, dietitians, hospital personnel) can greatly affect therapeutic efficacy.

Family Relations↗
PubMed2003

Reflux nephropathy and hypertension: correlation with the progression of renal damage.

The aim of this study was to evaluate the relationship between blood pressure (BP), measured with ambulatory blood pressure monitoring (ABPM), and the progression of renal damage in 100 (70 females, 30 males) normotensive children with reflux nephropathy (RN). The patients, mean age of 13.5+/-5 years and almost 5 years of follow-up, were divided according to degree of RN into group A (I/II) and group B (III/IV). For each subject, 24-h systolic and diastolic BP (SBP-DBP), load (percentage of BP readings that exceeded the age- and sex-specific 95th percentile), and biochemical parameters were recorded. There was no significant difference in casual BP between the groups. The mean 24-h SBP-DBP and load were significantly higher in group B than A. There was a significant difference in creatinine (Cr) levels between the groups, and Cr correlated with BP in both groups. In group B, microalbuminuria correlated with ambulatory BP, and plasma renin activity failed to decrease with chronological age. Elevated load was shown in 8 of 50 patients in group A and in 21 of 50 in group B. In 3 of 12 patients of group B, with increased load BP, left ventricular geometry, by integrated backscatter, was abnormal. ABPM was useful in selected children at risk of hypertension.

Adolescent↗
PubMed2003

Left ventricular remodeling, mechanics, and tissue characterization in congenital aortic stenosis.

BACKGROUND: As the response of the myocardium to pressure overload is age-dependent, this study was designed to examine left ventricular (LV) remodeling, mechanics, and tissue characterization in children with moderate congenital aortic stenosis. METHODS: We studied by echocardiography Doppler 22 patients (mean age 12.4 +/- 5.6 years) with peak and mean transvalvular gradient of 63 +/- 6 and 32 +/- 4 mm Hg, respectively. In addition, 30 age- and body surface area-matched participants with structurally normal hearts were used as a control group. Sex- and age-specific cut-off levels for LV mass/height(2.7) and relative wall thickness were defined to assess LV geometry. As a load-independent index of myocardial contractility, the relation between the rate-corrected velocity of circumferential fiber shortening both at endocardium and midwall, and meridional end-systolic stress was assessed. In addition, LV diastolic function was also evaluated by the mitral flow indexes. Finally, ultrasonic tissue characterization of the LV myocardium was performed by calculating the magnitude of cyclic variation, which reflects the intramural contractile function, and the averaged myocardial intensity of integrated backscatter, which is directly related to the myocardium collagen content. RESULTS: The endocardial velocity of circumferential fiber shortening endocardium and meridional end-systolic stress relationship was within the normal range (mean +/- 2SD) in 18 of 22 patients (81.8%), and midwall velocity of circumferential fiber shortening at endocardium and meridional end-systolic stress was normal in all 22 patients. No mitral flow index of LV diastolic function was significantly different between aortic stenosis group and normal participants. In our study population, 16 of 22 patients (72.7%) showed normal LV geometry, 3 (13.6%) had a pattern of concentric remodeling, and 3 (13.6%) concentric hypertrophy. LV hypertrophy was not marked (left ventricular mass index [LVMI] < 51 g/m(2.7)) in any patient. Finally, compared with control participants our study population showed, both at interventricular septum and posterior wall, comparable values of cyclic variation integrated backscatter, but significantly higher values of averaged myocardial integrated backscatter intensity (P <.01). CONCLUSIONS: In children with moderate congenital aortic stenosis, the total amount of myocardial collagen was increased despite normal LV myocardial contractility and diastolic function. Furthermore, LV remodeling was abnormal in only about a quarter of our patients and none had more than mild hypertrophy. Although the majority of these patients do not have markers now recognized to predict higher risk of cardiovascular events, the long-term significance of myocardial fibrosis and its response to treatment remain to be investigated.

Adolescent↗
PubMed2003

Myocardial ultrasound tissue characterization in patients with hypertrophic cardiomyopathy: noninvasive evidence of electrical and textural substrate for ventricular arrhythmias.

BACKGROUND: Although in patients with hypertrophic cardiomyopathy (HCM) pathologic studies seem to suggest a correlation between morphologic findings and arrhythmias, it has never been confirmed in the clinical setting. OBJECTIVE: We sought to noninvasively assess the electrical and textural properties of the myocardium and to define their potential relationship in patients with HCM. METHODS: We studied 48 patients: 22 with HCM (mean age: 22 +/- 5.1 years) and 26 age- and body surface area-matched healthy patients. They underwent a standard echocardiographic examination to assess left ventricular size and thickness. In addition, by integrated backscatter analysis, we assessed textural properties of left ventricular myocardium with calibrated averaged intensity (IB) and to assess functional properties of the myocardium with cyclic variation, both at the interventricular septum (IVS) and posterior wall. Finally, we studied ventricular late potentials (VLPs) by signal-averaged electrocardiography and performed a 24-hour electrocardiography Holter monitoring to respectively define electrical instability and ventricular arrhythmias. RESULTS: Compared with control patients, patients with HCM had, both at IVS and posterior wall, increased IB (-28.8 +/- 10 vs -35 +/- 4 dB [P =.007] and -29 +/- 8 vs -33 +/- 5 dB [P <.035], respectively) and decreased cyclic variation (6.8 +/- 2.7 vs 10.3 +/- 2.3 dB [P <.001] and 8.2 +/- 2.9 vs 11.4 +/- 2.1 dB [P <.001], respectively). In all, 5 patients with HCM had positivity of VLPs, and 4 of them showed nonsustained ventricular tachycardia (nsVT) on the Holter monitoring. Compared with patients who had HCM without VLPs and nsVT, patients with positivity of VLPs and nsVT showed higher IB both at IVS (-15.8 +/- 8.4 vs -32.6 +/- 5.9 dB [P <.001] and -16.6 +/- 9.5 vs -31.5 +/- 7.5 dB [P =.002], respectively) and at posterior wall (-19.08 +/- 8.42 vs -32.5 +/- 4.2 dB [P <.001] and -22.4 +/- 4.6 vs -31 +/- 7.5 [P =.04], respectively). A multivariate analysis showed IB at IVS (P =.042; odds ratio = 1.19) and positivity of VLPs (P =.026; odds ratio = 3.67) as independent predictors of nsVT. CONCLUSION: Patients with HCM showed abnormal morphologic and electrical properties of the myocardium. The correlation between VLPs and IB at IVS and their relationship with nsVT suggests a link between textural and electrical nonhomogeneity of myocardial fibers, a potential substrate of nsVT in patients with HCM.

Adolescent↗
PubMed2003

[A new echocardiographic approach to evaluate myocardial function in congenital cardiopathies: strain and strain rate imaging].

Based on color Doppler methodology, regional myocardial strain rates and strain can now be calculated by comparing local myocardial velocity profiles. These deformation data sets may be an important new approach to quantifying regional function of the left or right ventricle in congenital heart disease. This review will give an introduction to the principles behind the technique and how data are acquired and processed. It will also discuss the findings of clinical studies based on this new technique.

Echocardiography, Doppler, Color↗
PubMed2002

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit.

OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. RESULTS: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia. CONCLUSIONS: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.

Abnormalities, Multiple↗