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Myocardial infarction in the perinatal period, in the absence of congenital heart disease or coronary artery lesions, is rare. The most common etiology described are the thromboembolism and perinatal asphyxia. We report a case of monozygotic twins who developed, after birth, acute vascular events and both had PAI-1 4G/4G homozygosity.

OBJECTIVE At present, the level of care for adult congenital heart disease is not completely satisfactory in many European countries including Italy. The aim of this multicentre study was to evaluate the possibility of creating an active connection among different centres involved in the care of this patient population. METHODS This study lasted two years, from December 2002 to December 2004. It involved six clinical centres located in the north, centre and south of Italy; a research centre (ISBEM) affiliated to the National Research Centre was also involved. Each centre was supposed to contribute with written information (about their specific subject) on the web site; our target readers were physicians, nurses and patients. The intranet part of the web connection was used for a registry to be filled with very simple information (demographic data, main diagnosis, reason for hospitalisation, type of treatment) about patients hospitalised after January 2000. The aim of the registry was to get a snapshot of the composition of the treated population, and the spectrum of the lesions. RESULTS The main results are the following: (i) the creation of the web site www.guch-italia.it which can be accessed without a specific password; (ii) the creation of a registry in which we entered the clinical information of 1,231 patients; (iii) the presentation of guidelines on the web site, extrapolated from the recommendations for the management of adults with congenital heart disease from the Canadian Cardiovascular Society Consensus Conference. CONCLUSIONS With this study we tried to create a national network of centres that have as an objective to optimise the assistance to patients with adult congenital heart disease, trying to make the approach as much homogeneous as possible.

Background Supraventricular arrhythmias complicate operated and unoperated congenital heart disease, especially when atrial dilatation coexists. Methods We evaluated the results of intraoperative ablation in a group of 23 patients with chronic supraventricular tachyarrhythmias (mostly intraatrial reentry) that were unresponsive to conventional medical therapy. All procedures were performed consecutively between September 1999 and November 2001. Ablation was done during redo operations (Fontan conversion to total cavopulmonary connection in 16 patients) in 18 patients and during primary surgical correction in 5 patients. The mean age at operation was 25 ± 12 years (2 to 50 years). Cryoablation was done in 10 patients and radiofrequency ablation in 13 patients. Nineteen patients had ablation in one atrium and 4 had ablation in both atria. A generous atrial reduction was always performed at the end of the operation. Results The operative mortality rate was 13% (3 patients) from causes unrelated to ablation. In 20 survivors, the ablation was effective immediately. Eight patients required a permanent pacemaker. During a mean follow-up of 22 ± 4 months, atrial arrhythmias recurred in 25% (5 patients) and were controlled with medical therapy, whereas 1 patient required pacemaker implantation. Conclusions Intraoperative treatment of unresponsive atrial tachyarrhythmias associated with operated or unoperated congenital heart disease is feasible and the midterm results are encouraging.

BACKGROUND The STARFlex (SF) device is a CardioSEAL (CS) double-umbrella device that has been modified by the addition of a self-centering mechanism comprised of nitinol springs connected between the two umbrellas and a flexible core wire with a pin-pivoting connection. This paper compares the results of atrial septal defect (ASD) closure with CardioSEAL and STARFlex devices. PATIENTS AND METHODS Between December 1996 and March 2000, 117 patients underwent ASD closure with CardioSEAL (n = 79) and STARFlex (n = 38). The mean age (17 years), weight (49 kg), and ASD size (15 mm) were similar in the two groups. The procedures were performed under general anesthesia with both fluoroscopic and transesophageal echocardiographic monitoring. IMMEDIATE RESULTS The devices were successfully implanted in all patients. Ten patients had multiple ASDs. A single device was used in four patients (CardioSEAL in three, STARFlex in one), while a simultaneous placement of two CardioSEAL (one patient) or two STARFlex (five patients) were performed in six patients. The results are summarized as follows: [table: see text] Follow-Up Results: On follow-up clinical exam, electrocardiograms, chest X-rays, and echocardiograms were obtained at 1, 6, and 12 months. [table: see text] During follow-up there were no deaths, endocarditis, rhythm disturbances, or other complications. Arm fractures were observed almost exclusively with large CardioSEAL devices (40 mm, less frequently with 33 mm), and only in one 33-mm STARFlex device. There were no clinical complications related to fractures. CONCLUSIONS The STARFlex device seems to offer better results than the CardioSEAL, with significantly lower rates of residual shunts and arm fractures.

In this review, we describe the experience from 13 European centres using the CardioSEAL and Starflex double umbrella devices to close interatrial communications within the oval fossa (so-called ‘stcundum’ defects). Between October 1996 and April 1999, the procedure was attempted in 334 patients with a mean age of 12 years and a mean weight of 44kg. The mean measured stretched diameter of the defect was 15 mm. In the overall group, the defect was solitary in 245 patients (73%), multiple in 21 (6%), associated with an aneurysm of the flap valve in 15 (5%), was represented by patency of the oval foramen in 44 (13%), and was a fenestration in a Fontan repair in 9 (3%). In all patients, the devices were inserted under general anesthesia, using fluoroscopic and transesophageal echocardiographic control. Implantation was achieved in 325 (97,3%). The device embolized within either a few minutes or a few hours in 13 patients (4%). Of these, uncomplicated surgical repair was undertaken in 10, while the device was retrieved in 3 using catheters and a second device was successfully implanted. Residual shunting was detected immediately after the procedure in 41% of the patients, with the incidence decreasing to 31% at discharge, 24% at 1 month, 21% at 6 months, and 20.5% at one year. During the period of follow-up, elective surgical repair became necessary in two patients, due to malposition of the device in one, and late embolization in the other. Fractures of arms were seen in 6.1%, most commonly with the largest devices. All those with fractured arms of the device were asymptomatic, and no clinical complications related to the fractures were observed. There were no arrythmias, endocarditis, valvar distortion, thromboembolic events, or other complications. After one year of follow-up, clinical success, defined as complete closure of the defect or presence of only a trivial leak, had been obtained in 92.5% of the patients. We conclude, therefore, that these devices produce excellent results when used to close defects of small to moderate size. Results are less than optimal, or else complications ensure, when attempts are made to close very large defects.

SummaryBalloon dilation of the aortic valve was performed in 20 consecutive neonates with critical aortic stenosis using an approach achieved by cutting down on the right carotid artery. The age of the patients ranged from one to 25 days (mean seven days) and their weight from 2.1 to 4.0 kg (mean 3.16 kg). All patients were evaluated before cardiac catheterization with cross-sectional and Doppler echocardiography so as to keep the catheterization procedure as short as possible. Balloon dilation was accomplished in all patients. The only complication was an apical perforation by the guide wire in two cases. The ensuing pericardial effusion was immediately drained with pericardiocentesis and the subsequent course of the procedure was uneventful. Immediate results showed dramatic improvement in cardiovascular conditions. The transvalvar pressure gradient fell from 80±40 to 27±20 mm Hg (p

Haploinsufficiency of chromosome 22q11.2 is a well-established cause of both the DiGeorge anomaly and the velocardiofacial syndrome. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter- and intrafamilial variability. We report on a three-generation family with four members sharing the same 3 Mb long deletion but showing different phenotypic expression. In the first generation, the deleted patient has hypernasal speech and suffers from recurrent psychotic episodes. Two of her offspring inherited the deletion. One of these, a male, has hypernasal speech, low-set ears, hypocalcemia, severe development delay, and tetralogy of Fallot. The other, a female, has hypernasal speech, minor facial anomalies, and very mild mental retardation. Her daughter has tetralogy of Fallot, velopharyngeal insufficiency, and mild facial anomalies. This family is an example of the widely variable phenotypic expressivity of the 22q11.2 deletion. There is no correlation between the size of the deletion and the phenotypic manifestations. Genetic background and/or environmental factors could explain the different phenotypes observed in the affected members of the family.

Background and Purpose— Patent foramen ovale (PFO) has been identified as a potential risk factor for cerebrovascular ischemia. Procoagulant mutations may increase the risk and impact the choice of appropriate therapy for secondary prevention. We evaluated the prevalence of the 2 most common genetic risk factors for thromboembolism, factor V Leiden (G1691A) and prothrombin G20210A, in young PFO patients who were referred for percutaneous transcatheter closure of their PFO. Methods— Ninety-seven patients (50 men; mean±SD age, 40.9±10.0 years) with first-ever cerebrovascular events before the age of 55 years and 160 age-matched control subjects (69 men; mean±SD age, 40.4±10.5 years) were recruited into the study. Factor V Leiden and prothrombin G20210A mutations were detected by using a multiplex allele-specific polymerase chain reaction assay. Results— The prevalence of subjects carrying at least 1 prothrombotic genotype was significantly higher in the group of PFO patients than in the group of controls (10.3% vs 2.5%; χ 2 =7.2, P =0.008). Two patients (2.1%) versus 1 control subject (0.6%) and 8 cases (8.2%) versus 3 controls (1.9%) were carriers for factor V Leiden and prothrombin G20210A mutations, respectively. After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P =0.008) increased risk of cerebral ischemia in young patients. Conclusions— Our results indicate that prothrombotic mutations are important risk factors for cerebral ischemia in young patients with PFO. Screening for thrombotic mutations should be considered in young patients with PFO-related ischemic events.

Background: In patients with univentricular atrioventricular connection and the aorta originating from an incomplete ventricle, subaortic stenosis is generally due to a restrictive ventricular septal defect (RVSD), that may be present at birth or develop after palliative procedures. In particular, a primary role in the genesis of the RVSD has been ascribed to pulmonary artery banding (PAB). The aim of this paper is to analyse the possible risk factors for the development of an RVSD, including PAB, and the results of one of the proposed procedures for treatment of this condition (RVSD enlargement). Methods: We retrospectively reviewed clinical records and outpatient records of 24 consecutive patients with univentricular atrioventricular connection and the aorta originating from the incomplete ventricle that received their first treatment at our institution from January 1991 to April 2000. The variables age, sex, weight, diagnosis, surgical procedures, associated anomalies, associated surgical procedures, were considered. Results: Four patients (16.7%) had absent left atrioventricular connection, seven (29.7%) had absent right atrioventricular connection and discordant ventriculo-arterial connection, and 13 (54.7%) had double inlet left ventricle and discordant ventriculo-arterial connection. Five patients (20.8%) had associated coarctation or hypoplasia of the aorta, and eight (33.3%) had pulmonary stenosis or atresia. Median age at the first operation was 7.5 days (range: 1‐376). Median weight was 3.5 kg (range: 1.9‐6.3). Seventeen patients underwent pulmonary artery banding, one underwent a Damus‐Kaye‐Stansel connection, one received a Glenn shunt and five a modified Blalock‐Taussig shunt. Early mortality was 12.5%. The only variable associated with operative mortality was the presence of coarctation or hypoplasia of the aorta (P ¼ 0:004). Ten patients (41.6%) developed subaortic stenosis. None of the tested variables, including pulmonary artery banding, was associated with the development of subaortic stenosis. Subaortic stenosis was due to a restrictive VSD in eight patients, six of whom underwent direct VSD enlargement by muscular resection and are well at last followup (four complete repairs). None of the procedures was complicated by complete heart block. In two cases subaortic stenosis was treated by a Damus‐Kaye‐Stansel connection. A single patient died during follow-up, and 11 patients have achieved a complete one-ventricle repair. Conclusion: In our experience, pulmonary artery banding was not associated with an increased risk of developing an RVSD. VSD enlargement proved to be safe and effective for treatment of subaortic stenosis due to an RVSD. q 2002 Elsevier Science B.V. All rights reserved.

Surgical closure of congenital or post-myocardial infarction (MI) muscular ventricular septal defect (MVSD) is associated with significant mortality and morbidity; therefore, both surgeons and cardiologists would welcome a safe non-surgical approach. The aim of this study is to report the combined experience of 2 cardiac centers in the transcatheter occlusion of both congenital and acquired MVSDs using the Amplatzer MVSD occluder device (AGA Medical Corporation, Golden Valley, Minnesota). Thirty-two patients underwent attempted transcatheter closure of an MVSD. Nineteen of these patients had congenital unoperated MVSD, twelve had post-MI MVSD and 1 patient had an acquired VSD post-surgical repair of hypertrophic cardiomyopathy. The median age of patients was 11.5 years (range, 0.1 86.0 years) and median weight was 34.5 kg (3.4 123.0 kg). All patients had significant shunt documented by echocardiography with a median Qp/Qs ratio of 1.7 (range, 1.0 5.3). The VSD location was mid-muscular in 14 patients, posterior in 10, apical in 5 and anterior in 3. The systolic pulmonary artery pressure ranged from 10 85 mmHg (median, 34.5 mmHg). The device was implanted successfully in 30 patients. The device size ranged from 6 26 mm (2 of these were ASD devices). There was immediate complete closure of the defect in 15 patients and 14 patients had residual shunt (foaming through the device). The median fluoroscopy time was 56.7 minutes (range, 11.7 146.0 minutes). Complications included: tamponade in 1 patient resulting in death; device malposition in 1 patient requiring surgical removal; severe hemolysis in 2 patients; and transient junctional rhythm in 1 patient. Among the 30 patients with successful implantation, three died in the hospital and 2 died later. On follow-up evaluation, there were no episodes of endocarditis, thromboembolism, hemolysis or wire disruption. We conclude that the Amplatzer MVSD occluder is a safe and effective device for closure of MVSDs up to 14 mm in diameter. Further clinical trials with this device are underway.

In recent years, percutaneous placement of stents has been used as an alternative to surgery or balloon angioplasty for the treatment of adults with peripheral pulmonary arterial stenosis. This therapy has also been proposed for children, but questions still remain about its indications in this group of patients. We describe here the results of intravascular placement of stents in a group of 29 patients, with a mean age of 12±7 (range 3–31) years and weighing 35 ±19 (range 11–74) kg. All were affected by postsurgical or congenital isolated pulmonary arterial stenosis, and have now been followed for 38 ±19 (range 6–65) months. The early hemodynamic results have been excellent, with a significant reduction of the pulmonary arterial systolic pressure, the systolic pressure gradient, and the ratio of systolic pressures in the pulmonary and systemic circuits, and with a significant increase of the diameter of the stented vessels in all the patients. Of the 29 patients, 24 have been recatheterized 18 ± 10 months after the procedure, demonstrating the stability of the results, with a low incidence of late restenosis, this seen in only 1 patient (2°). Lung perfusion scanning, performed in 17 patients each year after the follow-up catheterization, has showed that the results are maintained at long-term follow-up (51 ±9 months).

Objectives: Surgical closure of some muscular ventricular septal defects has been proven to be difficult. In order to simplify the surgical technique we have used intraoperatively Rashkind double umbrella devices to occlude muscular ventricular septal defects. Methods: On the basis of haemodynamic and echocardiographyc study five children aged 4, 6, 7, 14 and 41 months were considered suitable candidates for intraoperative closure of muscular ventricular septal defects (midmuscular in three cases, apical in two) by Rashkind devices. Three of them had previously undergone pulmonary artery banding at 10, 11 and 41 days, respectively. During hypothermic cardiopulmonary by pass a delivery system was introduced across the tricuspid valve into the right ventricle and then passed through the ventricular septal defect; the distal umbrella of a 17 mm device was opened in the left ventricular cavity; a traction was applied to the introducer and the proximal umbrella was opened on the right side straddling the interventricular septum; the device was then secured on the right side by few stitches. In one case because of the wide diameter of the ventricular septal defect two umbrellas were used. The surgical procedure was completed with debanding and/or closure of other defects close to the aortic or tricuspid valve. Results: Immediate results, tested by epicardial or transesofageal echo, showed a minimal residual shunt in 4 patients and a moderate shunt in one. No early deaths occurred. A complete atrioventricular block developed in 1 patient who had an additional perimembranous defect closed with a prosthetic patch: a permanent pace maker was inserted 3 months after the operation. There was a late death for untractable right ventricular failure in 1 patient who had a large residual shunt erroneously considered moderate. In this patient, the size of the defect was underestimated both preoperatively then intraoperatively. The four survivors are doing well with no signs of hemodynamically significant residual shunts. Conclusions: The use of Rashkind umbrella devices for closing intraoperatively muscular defects can be helpful to standard surgical techniques when technical problems make patch closure difficult. Its use avoid the need of left ventriculotomy. Careful definition of the size of the defect is mandatory to select suitable candidates.

Between February 1988 and September 1993 balloon aortic valvuloplasty was attempted in 33 consecutive patients in the first year of life: 20 patients (61%) were younger than 1 month. Major associated anomalies such as mitral stenosis, coarctation, and hypoplastic left ventricle were found in 11 cases (33%). The balloon dilation of the aortic valve was accomplished through the right carotid cut-down approach in neonates and patients with body weight < 5 kg, through a percutaneous femoral approach in the others; the procedure was completed in all. The peak systolic gradient across the aortic valve measured at catheterization fell from 80 +/- 33 mmHg (range 25-165) before the dilation to 27 +/- 17 mmHg (range 0-65), afterwards (p < 0.0001). The left ventricular ejection fraction increased from 44% +/- 26% to 61% +/- 17%, 24-48 hours after the procedure (p < 0.0001). Aortic insufficiency developed in 17 cases, being moderate in 2, mild in 6, and trivial in 9. Seven patients (21%), all in the first month of life, died within 30 days from the valvuloplasty; major associated anomalies were present in six; the death was due to a procedure related complication in one. No mortality was observed among the patients undergoing valvuloplasty beyond the first month of life. On follow-up (6 months to 6 years) aortic restenosis occurred in 3 cases; 1 was treated by surgical valvotomy, 2 by repeat balloon valvatomy; in another 2 cases, a subvalvular aortic obstruction developed and was relieved by surgical resection. There was no late mortality. Thus, balloon valvuloplasty appears to be an effective palliation for critical aortic stenosis in infancy. Early mortality is mainly related to associated anomalies.