Echocardiographic findings in children with Marfan syndrome.

BACKGROUND: The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation. In this study, we aimed to show echocardiographic findings in 11 patients with Marfan syndrome. METHODS: Diagnosis of Marfan syndrome was based on the Ghent criteria. All patients had a full echocardiographic evaluation. During the evaluation, we investigated the presence of mitral valve prolapse, mitral valve regurgitation, tricuspid valve prolapse, dilatation of the aortic root, and aortic regurgitation. RESULTS: Eleven patients were diagnosed as Marfan syndrome (seven male, four female, age 4-14 years). All had mitral valve prolapse (nine with mitral valve regurgitation). Among these 11 patients, seven had accompanying tricuspid valve prolapse, six had dilatation of the aortic root and two had aortic regurgitation. CONCLUSION: Eleven patients in our clinic were diagnosed as Marfan syndrome since they had distinct characteristics of marfanoid phenotype. Echocardiographic evaluation of these patients showed marked heart valve involvement. In Marfan syndrome, it is known that the aortic valve is affected following mitral valve involvement. In our experience, aortic root dilatation is less common. However, particular attention should be given to following up aortic root status with noninvasive echocardiography to institute measures to prevent complications.

Mayer-Rokitansky-Küster-Hauser syndrome associated with pulmonary stenosis.

Two siblings with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome associated with pulmonary valvular stenosis are reported. Although the syndrome is well documented, the genetic background and familial occurrence is not known and the association with cardiac anomalies has not previously been reported. This report is the first report which describes the combination of cardiac anomaly with MRKH syndrome.

Abnormality of the left ventricular sympathetic nervous function assessed by I-123 metaiodobenzylguanidine imaging in pediatric patients with neurocardiogenic syncope.

The purpose of this study was to assess the left ventricular sympathetic nervous system function in the patients with neurocardiogenic syncope (NCS) using I-123 metaiodobenzylguanidine (MIBG) imaging of the heart, and to compare the plasma noradrenaline (NA) and MIBG results of tilt positive and tilt negative patients following a head-up tilt test (HUT). The study included 30 patients. Their physical and laboratory examinations did not show a pathology that may be the cause of their syncope. HUT test was positive in 13 patients and negative in 17 patients. Plasma NA concentrations were higher in the HUT positive than the HUT negative group at the beginning and at the 10th minute of the test. Specific I-123 MIBG uptake assessed as the cardiac to mediastinal activity ratio in the delayed image was significantly higher in HUT positive group. The higher levels of MIBG uptake and plasma NA observed in HUT positive patients may reflect the greater capacity of NA storage in cardiac adrenergic neuronal tissue in patients with NCS. The results of this study support the critical role of autonomic nervous system in the pathophysiology of NCS and the excessive sympathetic nervous stimulation as the trigger of paradox reflex.

Brucella endocarditis: case report and review of the literature.

Cardiac involvement in childhood brucellosis is rare and, when present, findings are usually seen in acute rheumatic fever with endocarditis. We report a successfully treated case of Brucella endocarditis in which the aortic valve was affected. Medical therapy did not cure this patient who, due to hemodynamic deterioration, required valve replacement. This case report suggests that successful management of Brucella endocarditis requires a combination of medical and early surgical therapy.

Estimation of pulmonary artery pressure by contrast-enhanced Doppler signals and comparison with catheter-measured pressures.

Determination of pulmonary artery systolic pressure (PASP) is essential for the diagnosis, and the timing and type of management of patients with congenital heart disease (CHD). Usually cardiac catheterization, an expensive and invasive technique, is required for accurate measurement. A number of noninvasive methods for the assessment of PASP have been developed, one of which is estimation of PASP using contrast-enhanced tricuspid regurgitation Doppler signals (TRDS). In this study, right ventricular systolic pressures (RVSP) and PASP of 36 patients (19 girls, 17 boys; aged 5 months to 15 years) with CHD were estimated by TRDS before and after galactose solution (GS) and were compared with catheterization measurements. Significant TRDS (> 1 m sec.) were obtained in nine of 36 (25%), patients before GS and in 23 of 36 patients (64%) after GS. TRDS were increased significantly by contrast agent. Estimated RVSP and PASP were significantly different from the measured pressures before and after GS. There were significant correlations between the estimated RVSP and PASP and measured RVSP after GS. Estimated pressures were underestimated. We conclude that it is better to use the estimated PASP on patients with significant TRDS for the classification of PASP.

Evaluation of dysrhythmia in children with muscular dystrophy.

Myocardial involvement and dysrhythmia are common findings with muscular dystrophy and are among the leading causes of death. The authors evaluated rhythm and conduction abnormalities in children with muscular dystrophy by electrocardiography, signal-averaged electrocardiography, and Holter monitoring. Twenty-nine patients (mean age, 8 years) and 29 healthy control subjects were included in the study. Sixty-two percent of patients had electrocardiographic abnormalities defined as deep Q waves in V6, tall R waves in V1, and QRS axis deviation. The cardiomyopathy index was significantly greater in the patient group whereas QT and QTc dispersion values showed no significant difference. Holter monitoring revealed premature atrial and ventricular contractions more frequently than normal. However all were classified as Lown I and II. Mean heart rate was significantly higher in the patient group. The electrocardiograms of 41% of the patients showed late potentials. No relationship with these changes and cardiac function was observed. During the study, one patient died whose cardiomyopathy index was longer and had late potentials detected with signal-averaged electrocardiography. In conclusion, standard electrocardiography, cardiomyopathy index, signal-averaged electrocardiography, and Holter monitoring are valuable and reliable monitoring methods in children with muscular dystrophy.

Hydatid disease and massive cardiac involvement.

Cardiac hydatid cysts are rare and represent 0.5-2% of all cases. Cardiac localization of hydatid cysts usually occurs in adults. Diagnosis is difficult because of the long latency between infection and manifestation of the disease, and also symptoms are nonspecific. We present a case study of 13-year-old girl with lots of hydatid cysts localized in the neighbourhood of the inferior vena cava right atrium and the superior vena cava right pulmonary artery aorta and posterior portion of the left atrium and the left ventricle, and the intramyocardium of the posterior wall of the left ventricle. An abdominal computed tomography scan showed a solitary cyst in the right posterior lobe of the liver. Following albendazole therapy for 3 weeks, she was operated on without cardiopulmonary bypass. Numerous alive and dead cysts were removed. Hepatic cysts were drained by percutaneous ultrasonography guided aspiration technique after surgery. On the 8th postoperative day, she was discharged while she was still on albendazole therapy.

Cardiac side effects of long-acting beta-2 agonist salmeterol in asthmatic children.

BACKGROUND: Salmeterol is a new long-acting beta 2 selective adrenoreceptor agonist. There are some reports about the cardiac side-effects of salmeterol in asthmatic adults. The aim of this study was to determine the cardiac side effects of salmeterol in children. METHODS: Seventeen children with moderate asthma (aged between 6 and 13 years, mean 8.76 years) received salmeterol with a spacer device (Volumatic 200 micrograms daily, b.i.d.) for 3 weeks. All the children were evaluated by 24 h ambulatory electrocardiography monitoring and echocardiography before, on the second and on the 21st day of treatment. RESULTS: In minimum heart rate measurements, there were significant differences between the baseline (mean +/- SD 54.29 +/- 7.13), second (59.24 +/- 6.86) and 21st day (60.65 +/- 8.23) results. Also, the mean heart rate before the treatment (89.59 +/- 6.78) was significantly different from that on the second (94.76 +/- 6.51) and 21st day (92.65 +/- 8.90) of treatment. Although all the values were within normal limits and there were no significant differences between the control group's values, a trend of increase in mean and the minimum heart rates was seen. There were no significant differences in blood pressure, serum K+, maximum heart rate, supraventricular and ventricular ectopic beats, ejection fraction, stroke volume, cardiac output and corrected QT interval at any time. No complaints of tremors or palpitations were reported. CONCLUSIONS: As no cardiac side effects were detected, it could be concluded that salmeterol is quite a safe drug for use in childhood asthma treatment.

Rheumatic heart disease prevalence among schoolchildren in Ankara, Turkey.

Rheumatic heart disease (RHD) continues to be a common health problem in the developing world. Although little longitudinal data are available, evidence suggests that there has been little if any decline in the occurrence of RHD over the past few decades. There are only a few population surveys available in Turkey for prevalence of RHD. This survey was undertaken to estimate its prevalence among schoolchildren and changes over the last 20 years in the capital, Ankara. In Ankara, 4,086 schoolchildren aged between six and 17 years were screened over a period four months (March 1995-June 1995) by the same pediatrician. Forty-eight percent (n = 1,945) were female and 52 percent (n = 2,141) were male. Three children out of 4,086 (0.73 per 1,000) were noted to have findings consistent with RHD. Fifteen children had an episode of rheumatic fever (RF). Cumulative prevalence rate (prevalence rate for RF history) was 3.7 per 1,000. We concluded that RHD prevalence has decreased in Ankara over the last decades.

Complete atrioventricular heart block in congenital hypothyroidism.

Severe hypothyroidism in children is known to produce cardiac abnormalities such as asymmetric thickening or hypertrophy of the interventricular septum, smaller internal dimensions of the left ventricle, a smaller left ventricular outflow tract, and less systolic septal excursion. In this report, we present a 1.5-year-old boy who was admitted to our hospital because of growth retardation. According to the clinical and laboratory findings, congenital hypothyroidism, dilated cardiomyopathy (DCMP), atrioventricular complete heart block and secundum type atrial septal defect were diagnosed.

A comparison between MUGA and echocardiography in patients with muscular dystrophy in the early detection of cardiac involvement.

Muscular dystrophies are a group of sex-linked diseases with frequent myocardial involvement. In this study 14 patients with Duchenne Muscular Dystrophy (DMD), 7 with Becker Muscular Dystrophy (BMD), and 8 female carriers who were asymptomatic were evaluated with echocardiography and multigated radionuclide ventriculography (MUGA). All showed predominant systolic and minor diastolic left ventricular dysfunction determined both by echocardiography and MUGA when compared with healthy controls. In conclusion, it is recommended that DMD, BMD, and female carriers be evaluated and closely monitored for cardiac functions. Though MUGA and echocardiography are both effective and sensitive techniques, echocardiography is more convenient for availability and serial evaluation.

Chest pain in children referred to a cardiology clinic.

One hundred consecutive patients (54 girls, 46 boys) referred to a pediatric cardiology department with the primary complaint of chest pain were evaluated. The age distribution was 2.5-16.0 years (mean 11.3 years for girls and 9.9 years for boys). The history showed 17% of patients with chest pain, 22% with heart disease, and 19% with recent death in the family. The time course of the pain was longer than 1 week in 92 patients. Localization was on the left precordium in 60 patients, and there was no radiation from the original site in 66 cases. Ninety-two percent of cases were idiopathic in origin. Of the 74 patients who had a psychiatric interview, 55 (74%) had psychiatric symptoms and 5 required psychiatric care. Anxiety, conversion disorder, and depression were the main psychiatric symptoms.

Atrial natriuretic peptide concentrations in children with pulmonary hypertension: correlation with hemodynamic measurements.

To define the relation between atrial natriuretic peptide (ANP) and hemodynamic parameters in children with pulmonary artery hypertension, we measured the ANP concentrations of the femoral vein, right atrium, pulmonary artery, left atrium and left ventricle, or femoral artery in 32 patients during right or left heart catheterization. There is a strong correlation among the ANP levels obtained from different locations (p < 0.001), and these ANP levels are positively correlated with pulmonary arterial pressures and pulmonary resistance. Patients were divided into two groups according to their pulmonary arterial pressure. The group with pulmonary arterial systolic pressure higher than 31 mmHg had higher ANP levels than the group with pulmonary arterial systolic pressure lower than 31 mmHg. When patients were grouped according to their pulmonary resistance, ANP levels in the group with pulmonary resistance over 2 U/m2 were higher than those in the group with pulmonary resistance lower than 2 U/m2. In this study ANP levels showed a correlation with the right ventricular systolic pressure. A correlation was not seen between ANP levels and the flow ratios or the presence of shunt. The results of our study suggest that ANP should be considered an important factor in pulmonary hypertension, independent of other factors.

Diffuse arterial aneurysms in a case of Ehlers-Danlos syndrome--a case report.

A three-year-old boy with the diagnosis of Ehlers-Danlos syndrome (EDS) with persistent ductus arteriosus and multiple diffuse arterial aneurysms is presented. The case is classified as "EDS type unknown" because the clinical features and the inheritance pattern differ from the types described previously. It is stressed that the diagnosis of the disease is important for genetic counseling and surgical intervention.

Unusual variation of asplenia syndrome.

The case of a 1-year-old cyanotic boy diagnosed with asplenia syndrome has been reported. By physical and laboratory examinations, levocardia, atrial inversion, primum ASD, single atrioventricular valve, single ventricle (left-hand morphology), rudimentary right ventricle (anterior, left-sided), pulmonary stenosis, left-sided vena cava, single vena cava superior were established and the case was diagnosed with asplenia syndrome. The patient has concordance between tracheo-bronchial situs and lung anatomy and inverted atrial and visceral situs, but without atrial isomerism that makes his case an unusual variation of asplenia syndrome.