A neonatal case of left ventricular noncompaction associated with trisomy 18.

A neonatal case of left ventricular non-compaction associated with trisomy 18: Left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy and exact etiology is still unknown. Trisomy 18 is the second most common autosomal trisomy in live-born infants. LVNC has been described in association with other dysmorphic features, association with trisomy 18 has not been reported previously in a neonate. LVNC broadens the cardiac anomalies associated with trisomy 18.

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.

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.

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.

Horseshoe lung with left lung hypoplasia.

Horseshoe lung is an uncommon congenital malformation in which the bases of the right and the left lungs are fused to each other by a narrow isthmus posterior to the cardiac apex. So far 22 cases have been described: most of these were associated with right lung hypoplasia and the scimitar syndrome. A horseshoe lung anomaly with left lung hypoplasia is described.

A case of mucopolysaccharidoses type I with heart involvement during infancy.

We report a case of mucopolysaccharidoses I with severe cardiac involvement, which was diagnosed on the basis of clinical and laboratory findings even though, symptoms begin to occur in mucopolysaccharidoses after the first year of life. In our case cardiac failure occurred in the third month of life, which resulted in the patient's death after one month.