Igor Stefanovic

Evaluation of myocardial perfusion and function by gated single-photon emission computed tomography technetium-99m methoxyisobutylisonitrile in children and adolescents with severe congenital heart disease.

ObjectivesThe value of gated single-photon emission computed tomography technetium-99m methoxyisobutylisonitrile (gated SPECT 99mTc-MIBI) in children is not yet established probably because gated SPECT 99mTc-MIBI has rarely been used in pediatric clinical and research studies. The purpose of this study was to evaluate perfusion abnormalities and left ventricular (LV) function by gated SPECT 99mTc-MIBI in children and adolescents with severe congenital heart disease (CHD). MethodsSeventeen children and adolescents with severe CHD (11 boys and six girls, mean age 11±4 years) underwent 2-day rest–stress (11 boys) or 1-day rest (six girls) gated SPECT 99mTc-MIBI. Myocardial perfusion was evaluated by a 17-segment model with a 5-point score to derive the summed stress score, the summed rest score (SRS), and the summed difference score based on the 4D-MSPECT software results. The extent of myocardial perfusion abnormalities was also expressed as a percentage of the LV size. The 4D-MSPECT software was used to calculate LV end-diastolic volume, end-systolic volume (ESV), and ejection fraction (EF). ResultsReversible myocardial perfusion defect was found in 7 of 11 children (64%) who underwent rest–stress gated SPECT 99mTc-MIBI. The LV segments involved were anterior, anteroseptal, anterolateral, apical and inferior. These seven children showed significantly larger perfusion abnormalities on stress compared with rest study (18±5 vs. 7±4%, P<0.01) and higher summed stress score compared to SRS (11±4 vs. 4±2, P<0.01). Children and adolescents with myocardial ischemia had significantly lower poststress EF than rest EF (53±12 vs. 59±11%, P<0.05) and significantly higher poststress ESV than rest ESV (81±24 vs. 61±25 ml, P<0.05). In six children evaluated only at rest, perfusion defects involved anterior, anteroseptal and apical, or inferolateral segments, accounting for 31±12% of LV and with SRS of 12±5. Their global LV parameters were: end-diastolic volume 118±23 ml, ESV 56±16 ml, EF 51±10%. ConclusionPoststress and rest-gated SPECT 99mTc-MIBI results indicate that children and adolescents with severe CHD show a range of abnormalities in myocardial perfusion and LV function, which is useful for determining functional importance of morphological malformations. Thus, gated SPECT 99mTc-MIBI provides complementary information that may guide clinical decision making in children and adolescents with severe CHD.

Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: Further delineation of presumed new dysmorphic syndrome

BACKGROUND Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was reported for the first time in three siblings. Autosomal recessive inheritance was presumed. This finding has been included in London Winter-Baraitser Dysmorphology Database as a separate entity, but still has not been classified as a distinct syndrome. CASE We report an infant with an association of prenatal growth retardation, microcephaly, facial dysmorphism, eye anomalies, congenital heart defects, and testis retention. Mild craniofacial dysmorphism consists of sloped forehead, bulbous nose tip, and micrognathia. Eye anomalies include coloboma of the iris, choroidea, and optic nerve as well as lens dislocation. The patient also presents with ventricular and atrial septal defects, hypoplastic mitral valve, persistent left superior vena cava, accessory spleen, and club foot. CONCLUSIONS To the best of our knowledge, this is the second family and the fourth case with this pattern of birth defects reported worldwide so far. We presume that this combination of multiple congenital anomalies and growth retardation constitutes a newly recognized syndrome of likely autosomal recessive inheritance. So far no data suggest etiological impact of consanguinity, parental age, or environmental factors.

Mowat-Wilson syndrome: A case report

INTRODUCTION Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprungs disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. CASE OUTLINE We report a four-year-old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results CONCLUSION Hirschsprungs disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.

Tricuspid atresia associated with aortopulmonary window: diagnostic and therapeutic dilemmas.

The association of tricuspid atresia with aortopulmonary window is exceptionally rare. We report a patient with tricuspid atresia, normally related great arteries, non-restrictive ventricular septal defect, and no pulmonary stenosis (type IC) with an aortopulmonary window who underwent successful initial surgical palliation. The unique anatomical feature of this case, other than the presence of the aortopulmonary window, was the absence of pulmonary stenosis at the level of either the ventricular septal defect or the pulmonary valve. All other reported cases have described some degree of restriction of anterograde pulmonary flow due to pulmonary stenosis or atresia.

Improving the Diagnosis of Children with 22q11.2 Deletion Syndrome: A Single-center Experience from Serbia.

ObjectiveThe incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome.DesignProspective study.SettingUniversity Children’s Hospital in Belgrade, Serbia between 2005 and 2014.Participants57 patients with clinical characteristics of 22q11.2 deletion syndrome.MethodsStandard G-banding cytogenetic analysis was performed in all children, and the 22q11.2 genomic region was examined using fluorescence in situ hybridization (FISH). For patients with no deletion detected by FISH, multiplex ligationdependent probe amplification (MLPA) analysis was also done in order to detect cryptic deletions of this region and to analyze other genomic loci associated with phenotypes resembling the syndrome. A selected group of patients diagnosed to have 22q11.2 microdeletion by FISH underwent MLPA testing in order to characterize the size and position of deletion.Outcome MeasureThe frequency of 22q11.2 microdeletion among children with at least two of the five major characteristics of 22q11.2 deletion syndrome (heart malformations, facial dysmorphism, T-cell immunodeficiency, palatal clefts and hypocalcemia/hypoparathyroidism)ResultsTypical 22q11.2 microdeletion was detected in 42.1% of patients; heart malformation were identified in all of them, facial dysmorphism in 79.2%, immunological problems in 63.6%, hypocalcemia in 62.5% and cleft palate in 8.3%.ConclusionsA higher detection rate compared to one-feature criterion is obtained when at least two major features of 22q11.2 deletion syndrome are taking into consideration. The criteria applied in this study could be considered by centers in lowincome countries.