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Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus., (Copyright 2003 Wiley-Liss, Inc.)

Apical ventricular septal defects (VSD) may spontaneously become restricted or may even close following tissue outgrowth within the right ventricle in the region of the apical muscle bundles. We report a case of spontaneous restriction of an apical VSD localized within the right ventricle in the region of prominent apical trabeculae, in which pulsed Doppler interrogation showed an unusual pattern of bidirectional blood flow across the VSD, with right to left flow in systole and left to right in diastole. Angiography confirmed these unusual aspects. This reverse bidirectional transseptal flow is due to the physiological incorporation of the apical part of the right ventricular cavity in the left ventricle and may be, in the absence of right outflow obstruction, a sign of restriction of the VSD inside the right ventricle.

Pulsus alternans was observed in a child with left ventricular dysfunction secondary to systemic hypertension. The Echo-Doppler of supravalvular aorta and a simultaneous electrocardiographic trace (ECG) clearly demonstrated the mechanism of an apparent abrupt halving of pulse frequency compared with the ECG, similar to an electromechanical dissociation 2:1. Besides the extreme pulsus alternans, a P wave and a PP cycle length change were also observed. Both mechanical and electrical alternans disappeared with afterload reduction by nitroprusside treatment.

Background: Isolated noncompaction of the left ventricular myocardium, a rare congenital disorder, is thought to be due to an arrest of myocardial morphogenesis. It is characterized by an excessively prominent trabecular meshwork and by deep intertrabecular recesses. The aim of this study was to clarify the late outcome of this malformation, reporting our experience on 5 pediatric patients observed for a period of 11 years., Methods: We describe the clinical, electrocardiographic and echocardiographic findings of 5 pediatric cases, with an age ranging from 1 month to 10 years. The mean follow-up was 4.5 years (> 10 years in 1 patient)., Results: In no case did life-threatening ventricular arrhythmias or systemic embolic events occur. Four patients who developed heart failure have been submitted to digoxin, diuretic, angiotensin-converting enzyme and anticoagulant therapy. One of them is still asymptomatic and in good health. One patient died while on the waiting list for cardiac transplantation., Conclusions: The appropriate and early diagnosis and treatment of this disorder can improve the outcome even though further studies will be needed to elucidate its long-term prognosis. At the same time, in view of the high incidence of a positive family history, evaluation of all members of the family is warranted.

Ventricular aneurysms have rarely been reported prenatally. Their prognosis is variable depending on factors such as early detection, their relative size in comparison to the ventricular cavity, growth on follow-up, and signs of cardiac failure. In view of the fact that it may be useful to report on additional cases in order to make available further information on aetiology, prognosis and neonatal management, we hereby report on two cases of ventricular aneurysm with good mid-term prognosis. One case of apical aneurysm of the left ventricle was associated with a muscular ventricular septal defect, the features of which are compatible with a fetal myocardial infarction and ventricular septal rupture in absence of coronary artery anomalies as demonstrated by catheterisation. Another case of sub-tricuspidal aneurysm of the right ventricle associated with mitral prolapse appears to be a component of diffuse connective dysplasia. Despite the early gestational age at diagnosis, the large size of the aneurysm and the associated defect, both the infants were asymptomatic in infancy prompting a conservative management., (Copyright 2002 John Wiley & Sons, Ltd.)

Background: Fetal cardiac rhabdomyoma is very rare; despite the fact that many cases and series have been reported, the clinical presentation, the natural history and the frequency with which this pathology is associated with tuberous sclerosis complex are not well determined. The aim of this investigation was to study the clinical features and the natural history of cardiac rhabdomyoma when diagnosed during prenatal life., Methods: Nine cases of cardiac rhabdomyoma detected among 5276 fetal echocardiograms recorded over a 10-year period in a single center were retrospectively reviewed. Medical records and echocardiograms were studied to determine the prenatal and postnatal course and outcome., Results: The incidence of cardiac rhabdomyoma in our center was 0.17%. The gestational age at diagnosis ranged from 27 to 36 weeks. The most common reason for fetal echocardiography was an abnormal obstetric ultrasound scan (6/9 cases). In no case was there a family history of tuberous sclerosis. In one case, the tumor was single whereas in 8 cases multiple tumors were diagnosed. During prenatal life the majority of tumors were clinically silent. One fetus died of hydrops and arrhythmia. Four children presented with arrhythmia postnatally and one required surgery. At a mean follow-up of 47 months, total or partial regression was observed in 7 patients. Seven patients developed postnatal clinical signs of tuberous sclerosis., Conclusions: Fetal cardiac rhabdomyomas are often benign and have a tendency to regress, but their prognosis is guarded due to very frequent association with arrhythmias and tuberous sclerosis. During prenatal counseling, it is of utmost importance to inform the future parents of the virtually constant perspective of tuberous sclerosis complex.

The authors report a case of non-surgical repair of a femoral artery pseudoaneurysm due to percutaneous catheterization. The procedure was performed by direct manual compression under intermittent color-flow duplex ultrasound control. Some conditions reported in the Literature as unfavorable for a prompt resolution were present (long time interval between invasive procedure and treatment, anticoagulant medication); nevertheless the manoeuvre was successful after only 20'. In comparison with previous experiences (reporting direct compression with the ultrasound transducer or with a mechanical vascular clamp device) the authors underline some observations: a) direct manual compression seems to guarantee a better stability in the optimal position allowing flow interruption in the lesion; b) ultrasound guide is necessary to prove the efficacy of compression, but a continuous monitoring doesn't seem necessary; c) in order to stop the procedure perhaps it is sufficient to interrupt completely the flow in the pseudoaneurysm cavity; a small flow, limited to the neck of the lesion, can be resolved if a pressure bandage is applied and the patient is maintained at bed rest for 12 hours. Manual, ultrasound guided obliteration may be considered a safe and efficacious method for non-surgical treatment of femoral artery pseudoaneurysms.

Homozygous familial hypercholesterolaemia is characterized by cutaneous xanthoma development from infancy, precocious and accelerated atherosclerosis with clinical signs of ischemic heart disease and frequent involvement of left heart valves resulting in stenosis and/or incompetence. Two cases are described of this condition, both associated with aortic stenosis. In one case mitral incompetence and thromboembolic pulmonary hypertension were also found. The mitral valve is involved in the atherosclerotic process at the level of the cusps. These become thickened and stiff. Aortic stenosis is mainly due to atheromas infiltrating the Valsalva sinuses and the ascending aorta. Pulmonary hypertension, never reported before in this disease, is probably due to concomitant atheromatosis involving the pulmonary artery with secondary fatty embolism.

The Authors report follow-up data (mean 60, range 13-101 months) from 4 patients under two years of age (mean 11.5 months) operated on for prosthetic mitral valve implantation. Two patients were male and two female. Pre-operative diagnosis was partial atrioventricular septal defect with parachute mitral valve in one case and isolated mitral valve anomaly in the others (1 parachute, 2 hammock valves). One bioprosthesis (Liotta n. 23) and three mechanical prostheses (Björk-Shiley) were implanted. Complications occurred in two patients: one case of endocarditis on the bioprosthesis, leading to substitution with a Björk-Shiley valve; one case of acute thrombosis 8 months after implantation in the only pt receiving aspirin as prophylactic therapy. This complication was resolved by intravenous thrombolytic agents. All the patients are alive, in I NYHA functional class and receiving oral anti-coagulants. Instrumental follow-up with eco-Doppler demonstrated normal functioning prostheses in all the patients. A sub-aortic gradient was found in the patient with partial atrioventricular septal defect. Prosthesis-patient mismatch was identified in a patient operated on when she was 6 months old who was followed-up for 5 years.

The angiographic findings of 10 cases with azygos (AC) or hemiazygos (HC) continuation of the inferior vena cava (IVC), associated with other congenital heart disease (0.5%), are described. Abdominal situs solitus was present in 7 cases, left isomerism in 3. In 5 cases IVC was to the left to the spine, bilateral in one. In 6 cases there was AC, HC in 2; in one both types of continuation were documented. It is important that this venous anomaly be diagnosed before cardiac catheterization; manipulation of the probe may be very difficult when saphenous approach is used. The correct use of the terms "Azygos", "Hemiazygos" and "Accessory Hemiazygos" are discussed.

The so called scimitar syndrome is a congenital malformation characterized mainly by the anomalous venous return of the right lung in inferior vena cava. Many structure of the lung may be involved. Usually lobation and bronchial distribution are abnormal, the right pulmonary artery is hypoplastic or absent, a partial anomalous artery from aorta (pulmonary sequestration) may be present, the entire lung is small and various degree of displacement of the heart to the right is detectable. Associated congenital heart defects may also be present. The name of the syndrome comes from the presence of this vessel (scimitar's sign) on routine chest x-ray. This paper describes the clinical and angiographic reports of four cases, which may represent, according a unique embriological interpretation, a different instances of this syndrome. The anatomic characteristic, the sign of scimitar, could be also absent, as in cases 2 and 3. In the case 2 there was complete absence of right pulmonary artery and in the case 3 a severe hypoplastic right pulmonary artery with unique small venous return in left atrium. The authors opinion is that all the anomalies of lung vascular connections, that result from interference with the normal growth of the lung bud, its separation from systemic vascular channels, and the establishment of the lesser circulation should be included. Because the different components of thie malformation can be present in various combination, the sign of scimitar is not pathognomonic to define the syndrome.

The effectiveness of the "diving reflex" in treating paroxysmal supraventricular tachycardia (PSVT) in 10 infants aged under 6 months is demonstrated. No rhythm disturbances were encountered during the maneuver, even in patients receiving digitalis. The recommended water temperature is 5 degrees C and the total time of facial immersion, between 6 and 7 seconds. The diving reflex might be considered the first therapeutic approach in infants under 6 months old with PSVT.

Determination of the arrangement of the atrial chambers ("atrial situs") is the first step in sequential chamber analysis of complex congenital heart disease. Although bronchial pattern, as detected by chest X-ray, is an excellent guide for prediction of atrial arrangement, exceptions to this rule based on post-mortem examination have been described. We report a case in which discordance between the atrial arrangement (mirror-image) and bronchial morphology (usual) was diagnosed during life.

"Discrete" (fixed) subaortic stenosis associated with ventricular septal defect (VSD) is a rare but important anomaly. Two types of left ventricular outflow tract obstruction should be distinguished on the basis of its relation with the VSD, depending on whether the stenosis is above or below the defect. The four cases presented here are all in the latter category. Usually the patients belonging in the former category are associated with severe anomalies of the aortic arch. The diagnosis was made by clinical examination and by means of non invasive techniques, ecg, chest x-rays and ecocardiograms in all but one patient (the case "3"), in whom a subpulmonary stenosis (SPS) was associated. The final diagnosis was established by catheterization, which demonstrated the pressure gradient on the withdrawal curve from the apical part of the left ventricle to the aorta, and by contrastography. Three of four patients underwent total correction and are in good condition from 6 to 18 months after surgery, one of these cases had also SPS. In the remaining case, we thought the operation was not indicated on the basis of small size of VSD, of mild pressure gradient, and mild aortic valvular insufficiency (case "4"). The surgical approach to resect the "fixed" obstruction and to closure the VSD was carried out through a right atriotomy in two patients, and through a right ventriculotomy in the patient with SPS. The trans-aortic approach has to be discarded because it affords limited exposure of both defects and could increase the risk of damage of conducting tissue. A careful evaluation of aortic and left ventricular pressure, in association with angled angiography is highly recommended in the study of VSD.

We present 5 cases with angiographically absent pulmonary artery: 4 with absence of right pulmonary artery and 1 with absence of the left. We excluded cases of atresia of pulmonary artery, ventricular septal defect and major aorto-pulmonary collaterals. We excluded also cases of anomalous origin of a pulmonary artery from the aorta. Surgical inspection in 3 patients demonstrated total absence of pulmonary main branch (1 case), with intraoperative death, and presence of the hilar portion of the pulmonary artery (2 cases), with successful palliative procedure. It is supportive of efforts to identify as early in life as is feasible the absent vessel, for surgical purposes. In fact the early surgical procedure will ensure development of the vessel and normal lung growth, and will decrease the risk of the following intracardiac repair, when needful.

The exact site of an interventricular septal defect (VSD) is important mainly to program surgical treatment. The present study takes into consideration the possibility of the axial angiocardiographic method to identify the site of the interventricular septal defect. With this goal 126 cases of VSD in infancy were retrospectively studied with left ventriculograms using angled "long-axial" and "four chambers" views. In 62 cases the anatomic-angiographic correlation of the VSD site was reached, and was confirmed at surgery. The most frequent localization of the VSD was perimembranous (89 cases, 70%). The rarest localizations were the sub-arterial and the multiple VSD. The personal experience agrees with the data found in literature, namely that angiocardiography performed with axial views has an elevated diagnostic reliability in the various types of VSD.