Sudden death in hypertrophic cardiomyopathy: old risk factors re-assessed in a new model of maximalized follow-up.

AIMS: in hypertrophic cardiomyopathy (HCM), the following five risk factors have a major role in the primary prevention of sudden death (SD): family history of SD (FHSD), syncope, massive wall thickness (MWTh) >30 mm, non-sustained ventricular tachycardia (nsVT) in Holter monitoring of electrocardiography, and abnormal blood pressure response to exercise (aBPRE). In HCM, as a genetic cardiac disease, the risk for SD may also exist from birth. The aim of the study was to compare the survival curves constructed for each of the five risk factors in a traditional follow-up model (started at the first presentation of a patient at the institution) and in a novel follow-up model (started at the date of birth). In an additional analysis, we compared the survival rate in three subgroups (without FHSD, with one SD, and with two or more SDs in a family). METHODS AND RESULTS: a total of 1306 consecutive HCM patients (705 males, 601 females, mean age of 47 years, and 193 patients were <18 years) evaluated at 15 referral centres in Poland were enrolled in the study. In a novel method of follow-up, all the five risk factors confirmed its prognostic power (FHSD: P = 0.0007; nsVT: P < 0.0001; aBPRE: P = 0.0081; syncope: P < 0.0001; MWTh P> 0.0001), whereas in a traditional method, only four factors predicted SD (except aBPRE). In a novel model of follow-up, FHSD in a single episode starts to influence the prognosis with a delay to the fifth decade of life (P = 0.0007). Multiple FHSD appears to be a very powerful risk factor (P < 0.0001), predicting frequent SDs in childhood and adolescence. CONCLUSION: the proposed concept of a lifelong calculated follow-up is a useful strategy in the risk stratification of SD. Multiple FHSD is a very ominous risk factor with strong impact, predicting frequent SD episodes in the early period of life.

[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.

[Isolated left ventricular non-compaction - various clinical presentations]. / Izolowany niescalony miesien lewej komory - rózne oblicza kliniczne.

The isolated left ventricular non-compaction (LVNC) is an increasingly commonly diagnosed myocardial disorder resulting from a defective morphogenesis of the endomyocardium. This is associated with high rates of thromboembolism, cardiac failure, and cardiac arrhythmia. The report describes 3 cases of LVNC, presenting with different clinical pictures.

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.

[Cardiovascular malformations in Turner syndrome]. / Wady ukladu sercowo-naczyniowego w zespole Turnera.

BACKGROUND: A literature review indicates that the prevalence of cardiovascular malformations in patients with Turner syndrome ranges from 17 to 47 percent. OBJECTIVES: The aim of the study was to evaluate the cardiovascular system in patients with Turner syndrome, controlled by the Pediatric Endocrinology Clinic of the Medical University of Gdansk. MATERIAL AND METHODS: The study included 55 females with Turner syndrome aged 3-20 years (mean age 9.6 years). The procedure included an interview, subject examination, chest X-rays and echocardiography. The echocardiography included M-mode measurements, two-dimensional evaluations from all standard planes, pulsed and continuous wave Doppler as well as color flow mapping. In selected cases, cardiologic examination embraced also cardiac catheterization, cineangiography and continuous 24-hour blood pressure measurement. RESULTS: Cardiovascular malformations were found in 18 out of 55 females (32.7%). Aortic coarctation was detected in 9 out of 18 patients (50%), bicuspid aortic valve in 33%, and aortic insufficiency in 22% of them. 78% of Turner subjects with cardiovascular malformations had monosomy (45,X). All females, except one, with aortic coarctation, had a 45,X karyotype. One aortic coarctation was diagnosed during prenatal examination. Before the last medical examination, 9 females had undergone a surgical treatment. In one case, the surgical treatment was preceded by a balloon angioplasty. Due to a recoarctation, one female was submitted to an additional balloon angioplasty. One female died during the post surgical period suffering from aortic wall injury. In four cases, despite successful surgeries, there still remains an arterial hypertension requiring pharmacological treatment. In 4 out of 18 cases (22%) isolated aortic valves defects were diagnosed, however, at present time they do not require any surgical treatment. In three cases, echocardiographic examination indicated a persistent left superior vena cava and aneurysm atrial septal defect with an intact septum. CONCLUSIONS: Due to a high prevalence of cardiovascular malformations, girls with Turner syndrome should be monitored by a pediatric cardiologist. In each case, female with Turner syndrome should be submitted to echocardiography. Also a careful control of the blood pressure is indicated.

[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.

[Late side-effects of treatment in patients with nephroblastoma]. / Odlegle nastepstwa leczenia przeciwnowotworowego u dzieci z rozpoznaniem nerczaka zarodkowego.

UNLABELLED: The aim of the study was to analyse late side-effects of the antineoplastic treatment in patients with diagnosed nephroblastoma. MATERIAL AND METHODS: In the years 1986-2002, 80 children were treated in the Gdansk Centre, for nephroblastoma, 13 of them followed SIOP-6, 25 were treated according to SIOP-9 and the remaining 42, SIOP 93-01 programme. RESULTS: 70 patients had long-term clinical remission. 10 patients died, 3 of them due to treatment complications (all were treated in accordance with SIOP 92-01: 1 - mycotic sepsis, 1 intra-operative hemorrhage and 1 - typhlitis), the other 7 due to disease progression (2 on the SIOP-6, 2 on the SIOP-9 and 3 on the SIOP 93-01 protocol). The late diagnosed complications of the treatment were: cardiomiopathy in 7 children, renal insufficiency in 1 case (the girl is presently after kidney transplant), tubulopathy in 4, proteinuria in 3, arterial 1 hypertension in 6, scoliosis in 9, chronic hepatitis (exclusively in children treated before 1994): type B in 11 (one girl has portal hypertension and esophageal varices), type C in 12 and both B and C in 5 children. Of the endocrinologic complications 4 patients were diagnosed with hipergonadotrophic hypogonadism. Secondary, neoplasms that were diagnosed several years from the completion of the nephroblastoma treatment, were the cause of death in 3 children (2 osteosarconma and 1 chondrosarconma). CONCLUSIONS: The advance in the treatment of neoplasia that has been achieved due to modern diagnostic and therapeutic procedures and the continual increase in the number of survivals obliges us the provide the patients with extensive specialistic and continuous medical care.

[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.

[Evaluation of systolic and diastolic function of the left ventricle in children with acute lymphoblastic leukaemia before treatment]. / Ocena czynnosci skurczowej i rozkurczowej lewej komory serca u dzieci z ostra bialaczka limfoblastyczna przed rozpoczeciem leczenia.

Between 1995 and 2001 echo-cardiography was performed in 244 children (128 boys, 116 girls) with acute lymphoblastic leukaemia (ALL) before the beginning of therapy with anthracyclines (medium 5.4 days after the diagnosis). The mean age at diagnosis was 5.4 years (range 9 months to 17.7 years). 189 children (97 boys and 92 girls) were included into the standard and medium risk groups and 55 (31 boys and 24 girls) into the high risk group. 29% of ALL children had disturbances in ECG. Changes in the thickness of the intraventricular septum (%IVSTh) and left ventricular posterior wall (%LVPWTh) were statistically lower, especially in children under 7 years of age. Some children showed lowering of shortening fraction (%FS - 8.6%), ejection fraction (%EF - 10.2%) and corrected velocity of fibber-shortening (Vcfc - 25.8%). Children with decreased shortening fraction (%FS) had left ventricular posterior wall thickness (%LVPWTh) impairment. Changes in diastolic function indicate impaired relaxation and compliance of the left ventricle. Decreased peak early filling velocity (E) was found. There were also longer deceleration time (EDecT) and decreased deceleration from peak E velocity (E/Dec) and longer isovolumetric relaxation time in children in standard and medium risk groups. Shorter acceleration time (EAccT) was seen in the high risk group. Evaluation of cardiac function before anthracycline chemotherapy will allow to select patients with pre-existing cardiac impairment for whom cardioprotective treatment is absolutely necessary.

[Epidemiology of hypertensive retinopathy in young patients after coarctation of the aorta repair]. / Epidemiologia retinopatii nadcisnieniowej u mlodych pacjentów po leczeniu koarktacji aorty.

PURPOSE: Coarctation of the aorta is a cause of childhood hypertension. In some patients hypertension persists after coarctation repair. We evaluated hypertensive retinopathy in patients after coarctation repair, factors correlated with retinopathy, specificity of retinal findings. MATERIAL AND METHODS: 54 patients (mean age of surgery 6 years, mean follow-up time 10 years), were studied. Hypertension was present in all subjects prior to operation. We used ambulatory blood pressure monitoring (ABPM) to follow blood pressure evaluation after repair. Direct ophtalmoscopy was performed in all subjects. RESULTS: Subjects were divided into two groups according to current blood pressure values: group I--normotensive--34 pts, group II--hypertensive--20 pts. Hypertensive angiopathy (I-II K-W) was found in 30% patients (9% in group I and 65% in group II). Subjects with angiopathy were mean 7 years older and had higher blood pressure values (24h mean systolic and load), than those without retinal changes. Patients with and without angiopathy did not differ significantly in preoperative blood pressure values. 81% subjects with angiopathy were hypertensive and 86% patients without retinal changes were normotensive. The most common fundus pathologies were arteriolar tortuosity (35%) and narrowing (28%). CONCLUSIONS: 1. There were no signs of persistent angiopathy in most normotensive patients, even though all of them suffered from hypertension in childhood. 2. In our study hypertensive angiopathy corresponded with present blood pressure values and patient's age. 3. All abnormalities were mild (I-II degree K-W), which also caused some diagnostic difficulties to distinguish between normal and pathological subjects.

[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.