[Turner syndrome: overview of problems, present status, proposals for care and a protocol for monitoring in childhood, adolescence and adulthood]. / Turneruv syndrom: prehled problematiky, soucasný stav, návrh koncepce péce a protokol sledování v detství, adolescenci a v dospelosti.

BACKGROUND: Girls and adolescents with Turner syndrome (TS) usually receive intensive medical care in a multidisciplinary team, coordinated by paediatric endocrinologist. Majority of them are discharged from specialist clinics following the induction of puberty and attainment of final height. Patients with Turner syndrome have a reduced life expectancy, they are known to have multi-system impairments in addition to the short stature and to the absence of sexual development. Aim of this study is to propos a continuous follow-up by multidisciplinary team of physicians starting in childhood and following the discharge from the paediatric care. METHODS AND RESULTS: This paper highlights the medical and psychosocial problems associated with Turner syndrome in childhood, adolescence and in adulthood. Analysis of these problems served as a background to management strategy. CONCLUSIONS: Women with Turner syndrome are at risk of number of medical problems. Quality of their life and the life expectancy can be improved with increasing awareness to comorbities associated with Turner syndrome. Assisted reproduction technologies has recently offered a chance for pregnancy and delivery of a healthy child also to women with Turner syndrome. Therefore, long-term follow-up by multidisciplinary team of physicians knowledgeable about these medical problems is necessary. Introduction of a centralised system of systematic multidisciplinary approach to patients with Turner syndrome from childhood and adolescence to adulthood seems to be very important.

[Growth in children with the exudative enteropathy syndrome due to a congenital heart defect--cor triatriatum dextrum]. / Rust u dítete se syndromem exsudativní enteropatie na podklade vrozené srdecní vady--cor triatriatum dextrum.

Retarded growth in a child can be the sign of serious chronic disease. The authors present an account of a six-year-old boy where growth retardation persisted at least from the age of three. During this period his height dropped from the zone between the 25th and 50th percentile into the zone between the 3rd and 10th percentile. From the clinical point of view a large abdomen, loose stools and hypocalcaemia with tetany were striking, as they were moreover refractory to vitamin D2, calcitriol and calcium administration by the oral route. The authors revealed severe hypoproteinaemia, a 150 times increased value of alpha-1-antitrypsin in faeces, and exudative enteropathy syndrome was diagnosed. The cause was venous congestion due to a rare heart disease--cor triatriatum dextrum. The septum in the right atrium was resected. Immediately after surgery the consistency and frequency of stool decreased. Calcaemia and plasma protein levels reached normal levels within two months. A growth spurt of 11 cm/year followed. Fifteen months after operation the patient's height reached almost the 50th percentile.

Cardiomyopathy and changes of skeletal muscles in cystic fibrosis.

Cardiomyopathy (CMP) was found in 26 children with cystic fibrosis (CF), 24 of them died, the majority of them during the first 3 years of life. Only 4 of them were older than 10 years. 2 children are living. CMP must be suspected in young children with CF and early heart failure. When CMP is the cause of sudden death, CF has to be suspected. The combination of changes in skeletal and cardiac muscles in CF is reported here for the first time.

Electrocardiographic changes can precede the development of myocardial hypertrophy in the setting of hypertrophic cardiomyopathy.

A comparison was made of electrocardiographic findings in 107 first-degree relatives of patients with hypertrophic cardiomyopathy without any clinical and echocardiographic signs of the disease and 188 healthy persons with a negative family history. A significantly larger number of electrocardiographic signs of left ventricular hypertrophy (P less than 0.05) and abnormal Q wave (P less than 0.005) was shown in the group of the relatives. Abnormalities of the R wave in V1-3 and of the ST-T segment were also more frequent in this group, but the difference is not statistically significant. In all, electrocardiographic abnormalities were found in 13 of 107 asymptomatic relatives of the patients with hypertrophic cardiomyopathy. These relatives had normal clinical and echocardiographic findings. These 13 patients underwent long-term follow-up (4.5-8 years). Typical hypertrophic cardiomyopathy developed in two patients (an increase in the myocardial thickness from 6 to 15 m in six years and from 8 to 13 mm in 4.5 years, respectively) which was accompanied by progression of the electrocardiographic findings. Electrocardiography is the only commonly available method which may reveal the latent forms of hypertrophic cardiomyopathy at the stage when neither myocardial hypertrophy nor other signs of the disease are expressed. Longitudinal follow-up is necessary for all the relatives of the patients with hypertrophic cardiomyopathy who have abnormal or borderline electrocardiographic findings. A normal echocardiogram cannot exclude the disease at this stage.

[The incidence of heart defects in children]. / Výskyt srdecních vad u deti.

By examining all of 91,823 children born in 1980 in Bohemia, congenital heart disease was proved in 589 (6.415/1000 liveborns) and cardiomyopathy in 24 (0.261/1000 liveborns). Further 166 (1.808/1000 liveborns) were follow-up with a diagnosis of congenital heart disease by pediatric cardiologists in the field, but at the age of 4 years we didn't prove the defect any more. Prevalence of heart defects: ventricular septal defect (31.4%), atrial septal defect (11.4%), aortic stenosis (7.6%), pulmonary stenosis (7.1%), coarctation of the aorta (5.8%), transposition of the great arteries (5.4%), patent ductus arteriosus (4.8%), atrioventricular canal and hypoplastic left heart (4.1%), tetralogy of Fallot (3.6%). Other defects occurred less frequently than in 2.5% of all congenital heart disease.

[Roentgenologic phenotype in syndromes associated with congenital heart defects]. / Rentgenová fenotypie syndromu spojených s vrozenou srdecní vadou.

In a group of children with congenital heart disease in 10.7% concurrently skeletal anomalies were observed (1085 children) and in 10.5% anomalies of the upper urinary pathways (1807 children). The authors describe X-ray findings in syndromes of anomalies most frequently associated with congenital heart disease.

Prevalence, treatment, and outcome of heart disease in live-born children: a prospective analysis of 91,823 live-born children.

All 91,823 children born in 1980 in Bohemia (population 6.314 million; area 52,478 square kilometers) were examined at least four times during infancy and at the age of three and four years. All children who died were autopsied and those with heart disease were selected. A total of 779 children (8.223/1000 live births) were suspected by provincial pediatric cardiologists of having a heart disease. All of these were examined at the age of four years at our Center of Pediatric Cardiology. At this age heart disease was proved in 613 alive or deceased children (6.676/1000 live births), congenital cardiac malformations in 589 (6.415/1000 live births), and cardiomyopathies in 24. The most frequent congenital heart defects (CHD) were ventricular septal defect (VSD) (31.41%), atrial septal defect (ASD) (11.37%), aortic stenosis (AS) (7.64%), pulmonary stenosis (PS) (7.13%), coarctation of the aorta (CoA) (5.77%), and transposition of the great arteries (TGA) (5.43%), followed by persistent ductus arteriosus (PDA) (4.75%), atrioventricular septal defect (AVSD) and hypoplastic left heart syndrome (HLHS) (4.07% each), tetralogy of Fallot (TF) (3.56%), and pulmonary atresia (PA) (2.38%). A prevalence of less than 0.1/1000 live births was found for the remaining cardiovascular defects. One hundred fifty-nine (25.9%) patients were admitted to our highly specialized center, 116 (19.7%) catheterized and 85 (13.9%) treated surgically, during the first four years of life. A total of 440 (71.8%) patients survived the fourth year of life. The percentage of deaths was 25.6% among those with congenital heart diseases and 71% with cardiomyopathies. The overall mortality rate was 27% in surgically and 26% in medically treated patients.

Lorcainide treatment of Wolff-Parkinson-White syndrome in children and adolescents.

Lorcainide was used in 17 children and adolescents aged 14 days to 18 years (mean 6.8 years) with the preexcitation syndrome (W-P-W type). Lorcainide was able to control attacks of supraventricular tachycardia in eight of 11 patients with the W-P-W syndrome and tachyarrhythmias. Long-term maintenance therapy prevented new attacks of tachyarrhythmia for an average period of nine (5-15) months in all seven patients who tolerated lorcainide administration. Normalization of the W-P-W pattern was reached in nine of 11 children with the W-P-W syndrome who had tachyarrhythmias and in three of six asymptomatic children with the ECG pattern of W-P-W. Single effective doses ranged from 12.5 mg orally in the neonates to 100 mg in the adolescents. The effect of lorcainide on the ECG usually appeared 2 h after the oral administration of the drug. Dizziness in three with insomnia and vomiting in one patient complicated the treatment. No drug-associated abnormalities in blood cell counts and biochemical values were identified.

Results of radical surgical correction of ventricular septal defect.

This study evaluates results of radical correction of simple and complex ventricular septal defect in 85 children. 35 children were under 3 years of age. Two babies operated at the age of 6 and 8 months in a critical condition died after surgery. Total operation mortality was 2.3%. In 51 patients examined one year and more after surgery, the long-term results are in 90% of the cases excellent and in 10% favourable. In none of the patients did the authors find an unfavourable result of the operation. The authors regard radical surgical correction of ventricular septal defect as a method of choice regardless of the patient's age and weight.