The diagnosis, clinical course and follow-up of children with cardiac tumours - a single-centre experience.

BACKGROUND: Rhabdomyoma is the most frequent primary cardiac tumour in children (about 50% of all cardiac neoplasms in this population). Fibroma, myxoma, teratoma and haemangioma are less frequent. AIM: To investigate the clinical presentation, diagnosis and follow-up of children diagnosed with cardiac tumours in our department between 1993 and 2008. METHODS: In the 15-year review we found 9 cases of cardiac tumours, confirmed in echo scan in every case and pathomorphologically in 5 out of 9 cases. RESULTS: Cardiac tumours were found in six boys and three girls, usually in the neonatal period. Cardiac murmur was the most common clinical symptom (4 cases). Two children were symptom-free. Out of the remaining children, two had circulatory failure and one had arrhythmia. Five children were operated on: three cases of rhabdomyoma, one fibroma and one teratoma. In 3 children who did not undergo surgery, the most probable diagnosis was rhabdomyoma. The follow-up (possible in 8 out of 9 cases, mean 7 years) showed that six children developed regularly and in two cases neurological abnormalities appeared. CONCLUSIONS: In this series, primary cardiac tumours presented as murmurs or circulatory failure. Most children needed surgery. In most cases, pathomorphology revealed rhabdomyoma. Follow-up showed regular development in six out of nine cases.

Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome.

The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, severe anomalies of digestive system or abdominal wall in 25% of patients. Nine surgical operations were performed during hospitalization (4 were palliative cardiac surgeries). Six patients (30%) survived the neonatal period and were discharged from the NICU. The median survival of the neonates who died was 20 days. In 4 cases cardiac problems implicated their death; in others, deaths were attributed to multiorgan failure, prematurity and/or infection. Further improvement of efficiency of prenatal ultrasound screening for diagnosis of trisomy 18 in the fetus is necessary. A lack of prenatal diagnosis of trisomy 18 in the fetus results in a high rate of unnecessary caesarean sections in these pregnancies. Despite the aggressive treatment most neonates with trisomy 18 died during the neonatal period. The majority of deaths were attributed to cardiorespiratory and multiorgan failure. Concerning the poor prognosis, prompt karyotyping (using FISH) of clinically suspected trisomy 18 is very important, because many invasive procedures and surgeries may then be avoided.

[Diagnostic problems in recognizing structural pathology of the heart during the prenatal period]. / Rozpoznawanie patologii strukturalnych serca w okresie prenatalnym--problemy diagnostyczne.

The aim of our study was to analyse the results of echocardiographic examinations of 28 fetuses with structural heart abnormalities referred for echocardiographic examination from January 1996 to May 2001 along with their follow-up. Fetal heart anomalies were diagnosed in 2.1% of all of the examined fetuses (28/1319). Among 28 cases of structural anomalies, there were 23 cases of heart defects, 4 cases of cardiomyopathy, and one case of intracardiac tumors. In 5 cases, heart defects were accompanied by arrhythmias while in 2 cases, heart defects were accompanied by congestive heart failure. Extracardiac malformations coexisted with heart defects in 11 fetuses. Eight newborns were operated shortly after birth. The mortality rate in the examined group was 64%.

[Parachute mitral valve coexisting with complex congenital heart defect. Successful multistage surgical treatment]. / Zastawka spadochronowa wspólistniejaca ze zlozona wada serca. Pomyslne wieloetapowe leczenie chirurgiczne.

Type parachute valve is a very rare bicuspid valve congenital anomaly. When signs of dysfunction are noted the valve has to be replaced with an artificial one. The case describes a 7-year old girl suffering from complex congenital heart defect: coarctation of the aorta followed by hypoplastic aortic arch, ventricular septal defect and parachute mitral valve. In the neonatal period the girl had been operated on by the subclavian floppy aortoplasty method due to coarctation of the aorta. At the age of 2, another surgical correction was performed: ventricular sept defect closure simultaneously with mitral valvuloplasty. In infancy she failed to thrive, also signs of heart failure had been observed which resulted from increasing mitral valve stenosis and III grade mitral insufficiency. These findings in with artificial valve replacement (type Sorin O 23 mm). Procedure has been performed by the left atrium. Post operational period was uneventful. Proper function of the implanted valve has been observed with no perivalvular leakage and left atrium diameter has been normalized.

[Significant aortic valve stenosis in the prenatal period--diagnosis, treatment, outcome. Two-center study]. / Istotne zwezenie zastawki aortalnej w okresie prenatalnym--diagnostyka, rokowanie, leczenie. Badania dwuosrodkowe.

OBJECTIVE: Retrospective analysis of the spectrum of fetal aortic valve stenosis with completed neonatal follow-up. METHODS: Fetal echocardiograms of 12 fetuses with aortic stenosis (AS) were analyzed. Mean gestational age at the time of diagnosis was 29.6 weeks. RESULTS: In all 12 cases critical AS has been detected. The left ventricle was estimated as small in three cases, in 7 cases as enlarged and hypokinetic LV (SF<28%) and in the next two cases the LV was well formed. In 6 AS cases, endocardial fibro-elastosis has been detected. Six fetuses presented mitral valve insufficiency; in three cases small LV mitral valve stenosis was diagnosed. Cardiomegaly occurred in 7 cases, including 5 cases with HA/CA > 0.5. Hypoplastic aorta has been detected in 2 cases and in one coarctation of the aorta. Retrograde flow in aortic arch and poor left ventricular function was diagnosed in ten cases. In 2 fetuses extracardiac malformations were present: hydrocephalus and pylorostenosis. In 83% of the cases CS had been performed and 17% were delivered vaginally (2 intrauterine fetal deaths). Four neonates had been qualified to percutaneous balloon valvuloplasty, in three cardiac surgery had been performed. Three neonates with AS (25%) survived--two after valvuloplasty (one of them required also cardiac surgery) and one after Norwood procedure. CONCLUSIONS: 1. Poor prognostic factors for neonates with critical fetal AS were as follows: small LV, retrograde flow in aortic arch, poor left ventricular function and presence of extracardiac anomalies. 2. Neonates who survived with fetal SA, had isolated CHD and well formed LV (also with endocardial fibroelastosis).

Analysis of risk factors and prospective evaluation of cardiovascular complications of Kawasaki disease in children: a single centre study.

BACKGROUND: Kawasaki disease (KD) remains a diagnostic challenge due to its nonspecific clinical symptoms. Delayed treatment initiation increases the risk of coronary complications. AIM: To evaluate the risk of coronary artery involvement and perform a prospective analysis of its course in children hospitalised due to KD. METHODS: KD was diagnosed in 38 children, including 25 boys and 13 girls, aged 1.5-118 months (median 37.5 months). We assessed the risk of cardiac complications in relation to the presence of a complete or incomplete form of the disease, age, gender and laboratory test results, as well as the timing of treatment initiation. Thirty-six children were followed for 1-9 years in a cardiology clinic. RESULTS: More than 80% of patients with KD were younger than 5 years. Eleven (29%) of them had an incomplete form of the disease. Coronary artery abnormalities were found in 10 (26%) children, insignificantly more often among those within complete KD. Each day of treatment delay increased the complication rate by almost 1.5 (OR 1.45, p = 0.009). Treatment initiated 10 days after the onset of the disease increased this risk almost nine times (OR 8.99, p = 0.007). No significant differences in respect to age (p = 0.431), gender (p = 0.744) and laboratory test results were found between the groups with and without coronary complications. A complete regression of coronary artery involvement was seen in 7 children, and partial regression was seen in one child. One child died and another needed coronary artery bypass grafting. CONCLUSIONS: Coronary artery aneurysms developed at a similar rate in both complete and incomplete forms of KD and the only significant risk factor was the timing of treatment initiation. In young children with fever of unknown cause lasting longer than 5 days, echocardiography is warranted. Despite a tendency for coronary artery aneurysms to regress, late complications may occur and all children require long-term follow up in a cardiology clinic.