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Aortico-left ventricular tunnel is a rare congenital cardiac defect, which bypasses the aortic valve via the paravalvar connection from the aorta to the left ventricle. The authors present the case of a 14-year-old boy with aortico-left ventricular tunnel in whom the aortic orifice arose from the right aortic sinus and was closed by a pericardial patch. The diagnosis was confirmed by combined two-dimensional and real time three-dimensional echocardiogram and magnetic resonance imaging. This is the first case, in which these complex diagnostic imaging methods have been used in the pre- and postoperative management of this defect. Optimally the new transthoratic three-dimensional echocardiography would be needed to define the anatomy and functional consequences of the aortico-left ventricular tunnel and in the postoperative follow-up.

Improvements in surgical techniques and technical advancements have made possible for several patients with congenital heart disease to grow up to adulthood. It has been decided to create a registry for their more precise treatment. This registry now includes 2770 patients with data on 3043 operations, with almost 30 different diagnoses. The purpose of this paper is to review the facts and the basics leading to the establishment of this registry.

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive and the first symptoms usually present in childhood. Consequences of the disease are disability and premature death. The disease in females could be as severe as in males although women may be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline has been summarized by a Hungarian multi-disciplinary working group consisting of physicians who are involved in diagnosis and care of Fabry patients. Previous clinical studies, published articles, and recently established international treatment guidelines were reviewed by the group.

Fabry disease is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriaosylceramide in different tissues of the body. The disease is progressive, first symptoms usually present in childhood. Consequencies of the diseases are disability and premature death. The disease in females could be as severe as in males although women may also be asymptomatic. The possibility of enzyme replacement therapy has made it necessary to elaborate a comprehensive guideline for the diagnosis and treatment follow-up. The guideline was established by a Hungarian multi-disciplinary working group, consisting of physicians who are involved in health care of Fabry patients. Previous clinical studies, published materials, and recently established international treatment guidelines were reviewed by the group.

Neonatal lupus erythematosus (NLE) is a disease of the first few months of infancy. It is caused by anti-SSA and anti-SSB antibodies, which are products of maternal autoimmune disorders (SLE, Sjögren, rheumatoid arthritis) and can be passively transported across the placenta. The prevalence of NLE is low. The major clinical findings are cutaneous (typical annular erythematous plaques), cardiac, hepatic and hematologic alterations. Its most severe consequence is third-degree heart block, which is irreversible, requires pacemaker-implantation and responsible for the 20-30% mortality rate. Symptoms usually resolve spontaneously at age of 6-9 months in association with disappearance of maternal antibodies from the infant's serum. In our case the typical cutaneous manifestations covered virtually the whole body, were present at birth, however, no conduction defects developed. The fact that the mother's sickness was not known at birth made it difficult to establish the diagnosis. The significant thrombocytopaenia, progressive skin-changes and the elevated liver function tests necessitated systemic steroid treatment.

The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.

Allergic contact dermatitis caused by fragrances and balsams play an increasingly important role in the daily practice of dermatology. Based on county tests, the authors have found high increase in 1999, which is in accordance with observations made abroad and the prognosis of earlier tests. The balsam of Peru and the fragrance mix are among the leader allergens, and this should be considered during treatment. Irrespective of age, scentless and hypoallergen cosmetics are to be used.

According to the recommendation of the American Heart Association and the American Academy of Pediatrics 43 newborn babies with mean birth weight 3300 g (range 610-5100 g) were resuscitated. One-minute Apgar score was 0:1, 1:22, 2:11, 3:7, 4:2 cases. Mask and bag ventilation were needed in 43, heart compression in 7, tracheal intubation in 2, drugs in 2 cases. Five-minute Apgar values were 8:39, 5:1, 7:1 case. All resuscitations were successful. The resuscitation program is a great advance in the field of neonatology. Nationwide application of it might be helpful to decrease neonatal mortality in Hungary.

From July 1989 to June 1994 23 modified Blalock-Taussig shunts were performed using allograft saphenous veins. Veins stored in Hank's solution were implanted in 8, and cryopreserved ones were used in 15 cases. No operative death, bleeding, or infectious complication has occurred. There were 2 early and 2 late deaths, none was related to shunt occlusion. Clinical, angiographic and echocardiographic investigations proved that the rest of the shunts are still patent and functioning well after an average of 30 months follow up. Histological studies showed that donor cells have been replaced after several months with recipient cells both in the wall and at the luminal surface of the grafts. No difference was found between veins stored in Hank's solution and cryopreserved grafts concerning clinical outcome and histology.

Five patients suffering from transient myocardial ischemia of the newborn are discussed. The role of two-dimensional doppler-echocardiography is emphasized in establishing the diagnosis. Tricuspid insufficiency due to perinatal asphyxia can be detected easier by ultrasound than by any other cardiac examination. Cardiac failure as a result of hypoxic myocardial ischemia is usually reversible and responds well to anticongestive treatment and administration of oxygen. On the other hand some cases can be fatal, histopathologic examination on the heart shows similarity to myocardial infarction.

The authors report 329 dopplerechocardiographic examinations performed on 167 term and preterm newborn babies presenting cyanosis. Seventy-six congenital heart defects were detected among their patients, 12 of whom were operated without heart catheterization, according to the ultrasound finding. The diagnosis of ten inoperable heart diseases established without hemodynamic examination was confirmed by autopsy. Cyanosis due to cardiac and pulmonary abnormalities without congenital heart defect was diagnosed in 38 patients. Persistent ductus arteriosus was found in 45 very lowbirth-weight premature babies. Doppler echocardiography proved to be a major advance in the differential diagnosis of newborn cyanosis and in choosing appropriate therapy.