[Massive intravascular haemolysis after percutaneous atrial septal defect closure]. / Masywna hemoliza wewnatrznaczyniowa po interwencyjnym leczeniu ubytku w przegrodzie miedzyprzedsionkowej.

We present a case of a 55 year-old female, who survived a complication of percutaneous closure of atrial septal defect never described before. Within the first day after treatment the device has dislodged and got stuck in the mitral valve apparatus. This has caused mitral insufficiency and massive haemolysis which resolved after interventional removal of the device.

Brachial plexus injury as an unusual complication after aortic stent implantation.

Aorta catheterisation can serve both diagnostic and therapeutic purposes in patients with aortic coarctation, especially when non-invasive evaluation cannot define severity of the abnormality. We report a case of bilateral brachial plexus injury due to standard positioning of the patient's arms during non-complicated aorta catheterisation and aortic stent implantation under general anaesthesia. In discussion, we consider our patient's predisposing factors, the understanding of which may be helpful in avoiding this complication in the future.

[Left ventricular non-compaction in an infant with congenital heart defect]. / Niescalony miesien lewej komory u niemowlecia z wada wrodzona serca.

Non-compaction of the left ventricle (NCLV) was categorised as unclassified cardiomyopathy by the World Health Organization in 1995. Over the last decade this condition has been identified as a distinct form of cardiomyopathy and a genetically heterogeneous disorder. Clinically, this may be coupled with the loss of contractility, arrhythmia, and thromboembolism. The prognosis in a symptomatic patient is generally poor, with progression to chronic heart failure and death, including sudden death. We report a case of a child with NCLV and coexisting hemodynamic significant ventricular septal defect.

Genetic background of congenital conotruncal heart defects--a study of 45 families.

INTRODUCTION: The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM: To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS: The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) having a child with the clinical features of CATCH 22 syndrome. All family pedigrees were performed. Each patient was investigated by echocardiography to assess the diagnosis of the cardiac defect. Anamnestic information with regard to developmental milestones, learning abilities in childhood and psychiatric disorders were recorded. All individuals were qualified for further genetic molecular diagnostic procedures such as FISH analysis for microdeletion of chromosome 22q11 using probe N25 DiGeorge Region with 22qter control Direct CP 5141-DC. RESULTS: Based on the pedigree analysis in Group I we suggest that complex heart defects are transmitted as a recessive variant. None of the members of these families has the clinical features of CATCH 22 syndrome. In Group II we did not find familial predisposition for the appearance of congenital heart defects. None of the evaluated members of the families from Group I had microdeletion of chromosome 22q11 based on FISH analysis so we decided to isolate DNA for further molecular diagnosis. In group II in 6 (60%) individuals with typical features for CATCH 22 syndrome FISH analysis confirmed microdeletion of chromosome 22q11. CONCLUSIONS: 1. The huge progress in molecular genetics creates new possibilities in the diagnosis of congenital heart defects. 2. The identification of families with high risk of recurrence of conotruncal heart defects enables genetic counselling and highly specialised medical care at the proper time.

[Congestive heart failure after the Senning operation. Case report]. / Niewydolnosc krazenia po operacji metoda Senninga. Mozliwosci terapeutyczne.

From the early 1960s to the mid 1980s, the Mustard and Senning procedures were the treatment of choice for transposition of the great arteries (d-TGA). We report a case of a young girl who had undergone surgical repair of complete transposition by the Senning procedure in the early infancy. Twelve years later she developed a congestive heart failure. Based on the x-ray, echo and angiography study she was qualified for reoperation at German Heart Institute Berlin with a very good result. Long term follow-up of patients who underwent Mustard or Senning repair for d-TGA leads to identification of multiple residua and sequelae, as well as functional problems associated with these two procedures. Our patient illustrates the effective therapy which can improve the quality of life and postpone the time for the heart transplantation.

[The significance of cardiac symptoms in patients referred to pediatric cardiology outpatient clinics]. / Znaczenie objawów ze strony ukladu krazenia bedacych przyczyna skierowania do kardiologa.

OBJECTIVE: To determine the significance of cardiac symptoms in patients referred to paediatric cardiology outpatient clinics. MATERIAL AND METHODS: All patients above l month of age referred to paediatric cardiac outpatient clinics between 01-Apr-2004 and 31-Dec-2004. Data was collected prospectively in Internet data base. Patients were divided into 3 groups: patients referred by paediatricians to regional paediatric cardiology outpatient clinic (group 1, N=3383), patients referred to Academic Paediatric Cardiac outpatient clinics by paediatricians (group 2, N= 7461) and by cardiologists (group 2a, N=793). RESULTS: Average age of patients was 6.4 +/- 5.8 years. The most common reasons for referral included cardiac murmur, chest pain, syncope, earlier diagnosed congenital heart disease (CHD). The proportion of patients referred by cardiologists and paediatricians because of murmur was 30% vs 56%, arrhythmia 12.6% vs 8% and CHD 44% vs 8%. The percentage of the significant cardiac pathology in all groups (l/ 2/ 2a) was 38/35/76; in patients with chest pain -- 9/18/0; with syncope -- 56/70/80; with murmur -- 19/21/43; with CHD -- 68/69/93 and with arrhythmia -- 57/80/92. CONCLUSIONS: l. There were no significant differences between patients referred by paediatricians from regional and academic outpatient cardiology clinics. 2. Isolated cardiac symptoms such as chest pain, cardiac murmur and syncope were caused by significant cardiac pathology only in about 1/5 cases. 3. Cardiac murmur was the most common reason for referral to cardiac outpatient clinic in younger patients, in older group syncope and arrhythmia were more frequent.

[Prevalence of hyperechoic renal pyramid syndrome in neonates and infants with congenital heart disease--ultrasound study of the abdominal cavity in the years 1996-2000]. / Czestosc wystepowania zespolu hiperechogennych piramid u noworodków i niemowlat z wrodzonymi wadami serca--analiza badan ultrasonograficznych jamy brzusznej przeprowadzonych w latach 1996-2000.

UNLABELLED: The normal medullary pyramids both in children and in adults are non-echoic on ultrasound evaluation when compared with renal cortex. Hyperechoic pyramids are associated with abnormal function of renal tubules. This sonographic finding has been described in various diseases including transient renal insufficiency in neonates and hypercalciuria induced by long-term furosemide therapy. The aim of this study was to evaluate the occurrence of hyperechoic pyramids in neonates and infants with congenital heart diseases. MATERIAL AND METHODS: The examined population consisted of 350 neonates and infants (187 male - 53%, 163 female - 47%), mean age 54,9 +/- 75,7 days (range 1 - 349 days) with new recognized congenital heart disease. All renal sonographic evaluations were performed from January 1st 1996 to December 31st 2000. RESULTS: A total of 19 (5.5%) neonates had increased echogenicity of the renal medullary pyramids. Almost 2/3 of cases were diagnosed in neonates with cyanotic congenital heart diseases. In infants with congenital heart disease hyperechoic pyramids were found in 5 (1.4%) cases. CONCLUSIONS: 1. In our study was shown, that the main reason of hyperechoic pyramids syndrome was neonatal asphyxia in association with cyanotic congenital heart disease. 2. Further nephrological evaluation is necessary in all case of hyperechoic pyramids syndrome. 3. Ultrasound examination of urinary tract should be an integral part of a complex evaluation of a patient with congenital heart disease.

[Left ventricular hypertrophy in paediatric predialysis children and treatment--induced regression of left ventricular mass]. / Przerost lewej komory serca u dzieci z przewlekla niewydolnoscia nerek w okresie przeddializacyjnym oraz wplyw leczenia hipotensyjnego na regresje zmian sercowych.

UNLABELLED: Cardiovascular disease remains the leading cause of morbidity and mortality in the chronic renal failure adult population. Recently it has been shown that also paediatric CRF patients are at high risk of cardiovascular complications. Recent research programs are looking into the initial stages of chronic renal insufficiency to assess the early predictors of cardiac or cardiovascular disease. In the present study we analyzed the prevalence of left ventricular hypertrophy (LVH) in predialysis paediatric population and the potential value of efficient antihypertensive treatment on regression of left ventricular mass. Forty-nine chronic renal failure patients, aged 2-19 years, had two echocardiographic evaluations: at the time of establishing CRF diagnosis and after 30 months of antihypertensive treatment. In this study LVH was defined as left ventricular mass index (LVMI) greater than 51 g/m2.7. At the baseline assessment LVH was found in 18 out of 49 children (63.2%). In the second echocardiographic study LVH was present in 7 (14.2%) children. CONCLUSIONS: 1. Left ventricular hypertrophy is common in young CRF patients. 2. The reduction of left ventricular mass is possible, and may be determined by the effectiveness of antihypertensive treatment.

[Cardio-vascular disorders at the time of diagnosis of malignant solid tumours in children--own experiences]. / Zaburzenia ukladu sercowo-naczyniowego w momencie rozpoznania zlosliwych nowotworów litych u dzieci--doswiadczenia wlasne.

UNLABELLED: Cardio-vascular abnormalities in children with neoplastic disease are observed in some cases even during initial diagnostic examinations. The aim of the study was to evaluate the frequency and characteristics of cardiological and vascular disorders in the initial phase of malignant solid tumors in children. MATERIAL AND METHODS: The study included 236 paediatric patients diagnosed with malignant solid tumours, treated in the Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdank, between 1992 and 2004. Disorders of the myocardium and pericardium as well as abnormalities in vein blood flow were identified. Diagnostic examinations comprised. electrocardiography, echocardiography, chest X-ray, computed tomography and magnetic resonance imaging. Angiography was performed in selected cases. RESULTS: Abnormalities of the heart and vessels were detected in 35 children (15%). Most of them (83%) were associated, directly or indirectly, with neoplastic growth. High frequency of pericardial effusion was detected (16 patients). Cardiologic emergency requiring immediate cardiosurgical intervention,occurred in two children with neoplasms infiltrating myocardium and/or pericardium. Abnormal vein circulation presented as vena cava superior and vena cava inferior syndromes in ten children. Cardio-vascular disorders not associated with neoplastic disease (congenital heart and vessel defects, pancarditis) were observed as rare conditions (2,5%) but in most cases resulted in delay in starting chemotherapy and modification of the treatment scheme. Cardio-vascular abnormalities associated with neoplastic growth tended to disappear during active chemo- and radiotherapy. CONCLUSIONS: The results of the study confirm that cardio-vascular abnormalities in children with cancer before therapy institution, are not infrequent. They may be life-threatening and influence the course and outcome of therapy. These observations imply the necessity of cooperation between the paediatric oncologist, cardiologist and radiologist during the initial diagnostics of malignant solid tumours in children.

Analysis of candidate genes for genotypic diagnosis in the long QT syndrome.

Patients with the long QT syndrome (LQTS) suffer from cardiac arrhythmias that can lead to abrupt loss of consciousness and sudden death, already in young individuals. Thus, an early diagnosis of LQTS is essential for patients and their family members. So far, six genes (KCNQ1, HERG, SCN5A, ANK2, KCNE1, KCNE2) have been demonstrated to be involved in the development of LQTS. Since this syndrome is genetically heterogeneous and large-sized families are often not available for linkage analysis, alternative tools are required for a genetic diagnosis. To investigate genes with numerous exons, like KCNQ1, HERG, SCN5A and ANK2, segregation analysis of a Polish Romano-Ward family with eight members was performed as a reliable method faster than linkage analysis or direct sequencing. To test these four LQT loci, an appropriate selection of microsatellite markers covering different chromosomal regions was applied. Furthermore, two small genes KCNE1 and KCNE2 (at the LQT5 and LQT6 loci), and the SGK1 gene (encoding a kinase regulating KCNE1 and SCN5A channels) were sequenced. All six LQT loci and the SGK1 gene were excluded by these analyses, thus a different pathogenic mechanism of LQT syndromes can be presumed.

[Aortic coarctation treated with bypass graft in adolescence and implantation of intravascular stent 12 years later--a case report]. / Koarktacja aorty leczona graftem omijajacym a nastepnie implantacja stentu wewnatrznaczyniowego.

A case of a 26-year-old female with aortic coarctation and Recklinghausen disease is presented. At the age of 14 years the patient underwent thoracic aortic bypass grafting. Twelve years later she developed arterial hypertension. Spiral computerised tomography revealed patent graft and invasive hemodynamical measurements showed a gradient of 30 mmHg. The patient underwent successful intravascular stent implantation.

[Sudden cardiac death in children]. / Nagla smierc sercowa u dzieci.

Natural, sudden deaths in children are the cause of about 5% of all deaths. The most frequent cause appears to be pathology of the cardiovascular system. Direct cause of death are arrhythmias or, rarely, haemodynamic disturbance coexisting with decrease in minute cardiac output. Authors present the most frequent diseases (myocarditis, hypertrophic cardiomyopathy, long QT syndrome and preexcitations syndromes) as well as congenital heart defects (aortic stenosis, tetralogy of Fallot, transposition of the great arteries, Ebstein's syndrome, anomalies of coronary arteries) which can be causes of sudden death in childhood.

Lung perfusion scintigraphy in the diagnosis of peripheral pulmonary stenosis in patients after repair of Fallot tetralogy.

BACKGROUND: The frequency of peripheral pulmonary artery stenosis in patients after surgical repair of tetralogy of Fallot (TOF) ranges from 20 to 40%. This can be either primary or secondary to the surgical intervention. The influence of resulting lung perfusion alterations on the life quality of patients is difficult to predict. The aim of this study was to compare the utility of the diagnostic procedures in this group of patients, with particular focus on lung perfusion scintigraphy. MATERIAL AND METHODS: This study comprised 104 patients who underwent repair of TOF at ages from 5 months to 25 years. The patients have been followed up for from 4.2 to 25 years. On the basis of chest x-ray peripheral pulmonary artery stenosis was suspected in 11 patients, in 12 on the basis of echocardiography examination. RESULTS: Lung perfusion scintigraphy has been performed on 87 patients. The disturbances in lung perfusion (mostly in the left lung) were show by means of lung perfusion scintigraphy in 43 (49%) of patients. In 27 of them heart catheterisation has been performed. Angiography revealed stenosis of the lung artery branch in 15/43 (34.9%) patients with abnormal perfusion lung scan and in 4/44 (9%) in patients with normal perfusion lung scan. Intervention procedures were carried out on 10 patients. CONCLUSIONS: Lung perfusion scintigraphy may prove a valuable, non-invasive screening tool in the assessment of patients after TOF repair, although both false-negative and false-positive results may happen. Therefore, it should play an auxiliary role together with other diagnostic modalities.