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.

Transposition of great arteries in an infant born after prenatal diagnosis of trisomy 20 mosaicism.

We report a case of prenatally diagnosed mosaic trisomy 20 in cells cultured from amniotic fluid. Trisomy 20 was present in 7 cells (13 percent) in a total of 52 investigated cells. Following the normal findings of an ultrasound scan, the couple decided to continue the pregnancy. A dysmorphic infant was born at the 38 weeks of gestation with generalized dysmorphic features and multiple cardiac anomalies including transposition of great arteries. Chromosome analysis on both cord blood and placenta at birth revealed a normal 46,XX karyotype. This patient is the first case of a liveborn infant with mosaic trisomy 20 cells detected in amniotic fluid culture with transposition of great arteries, atrioventricular concordance and ventricoarterial discordance.

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.

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.

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.

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.

Acute disseminated encephalomyelitis exacerbated by varicella.

The actual incidence of central nervous system complications with varicella ranges from 0.1 to 0.7% in several series and the time interval between the rash and the type of neurological manifestation varies widely. Cerebellar ataxia and hypotonia are the most common neurological abnormalities associated with varicella. We present a report on a 6-year-old girl with an unusual course of disease finally presenting a probable diagnosis of acute disseminated encephalitis.