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.

Tetralogy of fallot and absence of left pulmonary artery.

Unilateral absence of the pulmonary artery is a rare congenital lesion usually caused by backward displacement of the conical artery of the truncus arteriosus. The purpose of this report is to describe and discuss the treatment of an 8-year-old patient who presented with cyanosis and was diagnosed with tetralogy of Fallot together with an absence of the left pulmonary artery and major aortopulmonary collateral arteries.

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

We report a 13-year-old boy with multisystem involvement secondary to accumulation of amylopectin-like material. He was born to consanguineous parents at full term without any complications and his maternal perinatal history was uneventful. His parents were cousins. He had normal growth and development except for his weight. His sister died from an unexplained cardiomyopathy at the age of 8 years. Our patient's initial symptom was severe heart failure. Since he also had a complaint of muscle weakness, electromyography was performed which showed muscle involvement. The diagnosis was suggested by tissue biopsy of skeletal muscle showing intracellular, basophilic, diastase-resistant, periodic acid-Schiff-positive inclusion bodies and was confirmed by the presence of a completed branching enzyme deficiency. Similar intracytoplasmic inclusion-like bodies were also found in liver biopsy, but very few in number compared with the skeletal muscle. The patient died from an intercurrent infection. Postmortem endomyocardial biopsy revealed the same intracytoplasmic inclusions as described above affecting almost all myocardial cells. Ultrastructural examination of liver biopsy was nondiagnostic; however, myocardium showed prominent, large, intracytoplasmic deposits. Glycogen branching enzyme gene sequence was normal, and thus classical branching enzyme deficiency was excluded. Our patient represents the first molecular study performed on a patient in whom there was multiple system involvement secondary to accumulation of amylopectin-like material. We suggest that this is an as yet undefined and different phenotype of glycogen storage disease associated with multisystemic involvement.

Brain perfusion assessed by 99mTc-ECD SPECT imaging in pediatric patients with neurally mediated reflex syncope.

BACKGROUND: The involvement of cardiogenic and neurogenic mechanisms in neurally mediated reflex syncope is well documented. In our previous studies in patients with neurally mediated reflex syncope, we have found evidence for differential regulation of the noradrenergic receptors in tilt-positive and tilt-negative patients. The present work concentrates on the observations of differences in regional brain perfusion using brain SPECT via injecting the patient at the completion of the tilt test. METHODS AND RESULTS: The following study was designed to assess the reduction and regional differences in cerebral blood flow by means of SPECT using technetium-99m labeled V-oxo-1,2-N1ethylenedylbisl-cysteine diethylester (ECD) in patients with an injection during tilt testing. Twenty patients with NMS were included in the study with a mean age of 12.2 years (age range; 8-16 years). HUT was positive in 10 patients and negative in 10 patients. When tilt (+) and tilt (-) were evaluated together, regional cortical/cerebellum ratios were ranging from 0.85 to 1.25 in different cortical areas with highest variability of perfusion index in left frontoparietal cortex. The lowest perfusion index values were observed in the left anterior frontal region followed by the left prefrontal-frontoparietal-anterior, parietal-orbito frontal, and anterior temporal regions where perfusion is predominantly supplied via the anterior and middle cerebral arteries, while these differences did not reach statistical significance in a single dominant region compared to the other regions examined using ANOVA (P > 0.05) with this sample size. Decreases in [99mTc]ECD uptake were more widespread regionally on the left hemisphere than were decreases in right side of the brain. However when tilt- and tilt+ groups were compared, perfusion was significantly lower in the right periinsular posterior parietal and temporal regions (P < 0.05) in tilt + group. CONCLUSION: These tilt induced regional differences in brain perfusion suggest the distinct roles of middle cerebral artery dominant territory-related vasodepressor compensation mechanisms in neurally mediated reflex syncope phenomena where cerebral lateralization of cardiac control and insular ischemia may play an important role.

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.

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.

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature.

In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome). Among those with congenital pulmonary arteriovenous fistula, the diagnosis is made during infancy in only 15% of patients. We present a case of pulmonary arteriovenous fistula in a newborn and review the literature. This rare condition of newborns can be treated with different surgical procedures. Only 17 cases of newborn pulmonary arteriovenous fistula/have been reported, and only two of those had associated Rendu-Osler-Weber syndrome. The results of surgical procedures were good in most of these cases. We treated our case with lobectomy successfully.

A case of isotretinoin embryopathy with bilateral anotia and Taussig-Bing malformation.

We report a newborn infant with multiple congenital anomalies (anotia and Taussig-Bing malformation) due to exposure to isotretinoin within the first trimester. In this paper we aim to draw to the fact that caution is needed when prescribing vitamin A-containing drugs to women of childbearing years.

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.

Technetium-99m hexamethyl propylenamine oxime lung clearance in the estimation of pulmonary hypertension in congenital heart disease: A preliminary comparative study with cardiac catheterization and pathology.

Thirty-six patients ranging in age from 7 months to 15 years and weighing from 5300 g to 49 kg (24 undergoing corrective surgery and 12 cases with reversed shunt and no operation) underwent technetium 99m hexamethyl propylenamine oxime (Tc-99m HMPAO) lung clearance study and the results were compared with catheterization and pathology. Patients were allocated into three groups with respect to pathological grading (Heath-Edwards' classification) and the results were correlated on the basis of pathology. In group I (grades I and II), Pearson correlation coefficient was 0.86 with pulmonary artery pressure (PAP), pulmonary vascular resistance (PVR), and Tc-99m HMPAO lung clearance (t1/2). Pearson correlation coefficients were 0. 863 and 0.88 in the second (grade III) and third group (with reversed shunt and no operation). There were statistically significant differences among the groups with respect to PAP, PVR, or t1/2. The results of radionuclide study (t1/2) were very well correlated within the groups with respect to hemodynamic parameters (PAP and PVR). Tc-99m HMPAO has potential as a highly sensitive indicator for detecting early and minimal microvascular lung injuries, and it may reflect accurate lung clearance and retention enabling an estimation of the state of pulmonary hypertension.

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.

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia. A genome search using homozygosity mapping provided evidence of linkage to chromosome 12p12.3-13.1 (maximum multipoint lod score, 4.06). MGP was a candidate on the basis of its localization to this chromosomal region and the known function of its protein. MGP maps to chromosome 12p near D12S363. Human MGP is a 10-kD skeletal extracellular matrix (ECM) protein that consists of an 84-aa mature protein and a 19-aa transmembrane signal peptide. It is a member of the Gla protein family, which includes osteocalcin, another skeletal ECM protein, and a number of coagulation factors (factors II, VII, IX, X and proteins S and C). All members of this family have glutamic acid residues modified to gamma-carboxyglutamic acids (Gla) by a specific gamma-carboxylase using vitamin K as a cofactor. The modified glutamic acid residues of Gla proteins confer a high affinity for mineral ions such as calcium, phosphate and hydroxyapatite crystals, the mineral components of the skeletal ECM. The pattern and tissue distribution of Mgp expression in mice suggest a role for Mgp in regulating ECM calcification. Mglap-deficient mice (Mglap-/-) have been reported to have inappropriate calcification of cartilage. Mutational analysis of MGP in three unrelated probands identified three different mutations: c.69delG, IVS1-2A-->G and c.113T-->A. All three mutations predict a non-functional MGP. Our data indicate that mutations in MGP are responsible for KS and confirm its role in the regulation of extracellular matrix calcification.

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.