Milan Djukic

Severe renovascular hypertension in an infant with congenital solitary pelvic kidney

Renal artery stenosis (RAS) is one of the most common causes of severe arterial hypertension in infants. Its management is very difficult, especially when present in a single kidney. We report a case of severe hypertension caused by RAS of congenital single pelvic kidney in a 4-month-old boy. The patient presented with cardiorespiratory insufficiency that was first treated as acute fulminate myocarditis. Medical treatment of arterial hypertension was disappointing, as it had to be balanced between congestive cardiac failure and acute renal failure. Percutaneous transluminal angioplasty (PTA) done by coronary balloon dilatation catheters through the left axillary access was successful. Following dilatation of the renal artery, blood pressure decreased and its good control was possible by only one drug. With improved medical blood pressure control and normal growth development, the reassessment of clinical therapy options adjusted to a larger vessel size would be possible. Renovascular hypertension due to RAS in infants with a solitary kidney is difficult to control by medical treatment alone. PTA should be considered as a viable option in infants with refractory hypertension due to renal artery stenosis in a solitary kidney, since it has the potential of improving hypertension while preserving renal function.

Ruptured Hydatid Cyst of the Interventricular Septum with Acute Embolic Pulmonary Artery Complications

Hydatid cysts located in the interventricular septum are especially rare but with the high risk for intracavitary rupture. We report a patient with acute pulmonary embolism caused by an isolated, ruptured hydatid cyst on the right side of the interventricular septum. Early diagnosis was made by echocardiography and positive serology. Pulmonary artery embolism was confirmed by angiography and the patient was operated on. Embolectomy was performed by removing multiple fragments of ruptured endocyst from the left pulmonary artery, followed by surgical closure of a cyst cavity. Prompt diagnosis and an appropriate surgical treatment prevented a potentially fatal outcome.

Two rare conditions in an Eisenmenger patient: Left main coronary artery compression and Ortner's syndrome due to pulmonary artery dilatation

The left-main coronary artery extrinsic compression due to enlarged pulmonary artery has been described in several case series. Ortners syndrome is also a rare condition in some cardiovascular disorders. There have been no reports about these two rare conditions in the same patient. Hence, we report a very rare case of an Eisenmenger patient with severe pulmonary hypertension and dilated pulmonary artery which has compressed the left main coronary artery, severely narrowing it, and the left laryngeal recurrent nerve with subsequent Ortners syndrome and brief literature review.

Unrestrictive Aortopulmonary Window Extreme Presentation as Non-Eisenmenger in a 30-Year-Old Patient

A 30-year-old woman was referred for management of an aortopulmonary window. Her history was notable for chronic atrial fibrillation treated by amiodarone and Coumadin anticoagulation. Peripheral oxygen saturation was 95%. A chest x-ray film showed cardiomegaly, bilateral prominent hilar vascularization, and interstitial edema (Figure 1). The echocardiogram showed a large, 15-mm aortopulmonary (AP) window, ≈25 mm above the aortic valve annulus between the ascending aorta and main pulmonary artery (type I) with an unrestrictive, exclusively left-right shunt and a peak gradient of 30 mm Hg (Figure 2). There was no aortic coarctation or interruption of the aortic arch, and the main pulmonary artery (3.3 cm) was dilated to a size equal to the aortic root, with dilated branch pulmonary arteries (2.3 cm each). The left atrium was severely dilated (45 cm2), as was the left ventricle (end-diastolic diameter, 7.5 cm; indexed, 5.2 cm/m2). There was moderate mitral regurgitation (regurgitation volume, 26.6 mL; proximal isovelocity surface area convergence radius, 6.8 mm) attributable to annular dilatation. The biventricular systolic function was normal. The right ventricular systolic pressure was estimated at 63.3 mm Hg by the gradient of the tricuspid regurgitation jet. Cardiac MRI confirmed these findings (Figure 3 …

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.

A rare association of interrupted aortic arch type C and microdeletion 22q11.2

Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted aortic arch (IAA) type B and very rarely with type A and type C. Here we report the first case of IAA type C associated with 22q11.2 deletion in Serbia and, to the best of our knowledge, the fourth case described worldwide so far. By this report we would like to point out that all patients with IAA type C who have additional features specific for 22q11.2 microdeletion syndrome should be screened for the presence of this deletion.

Diffuse varices of the right pulmonary veins.

We describe a patient with diffuse varices of the right pulmonary veins in association with patency of the arterial duct and an atrioventricular septal defect with separate right and left atrioventricular valvar orifices.

Transcatheter closure of a residual aorto-left ventricular tunnel: report of a case with a 6-year follow-up

Aorto-left ventricular tunnel is an exceedingly rare congenital cardiac defect. Early surgical closure is the treatment of choice. Residual or recurrent tunnel and aortic valve insufficiency are well-recognised complications after surgical repair. In this article, we report on successful transcatheter closure of a residual aorto-left ventricular tunnel using an Amplatzer duct occluder in a 7-year-old boy. The outcome after 6 years of follow-up is encouraging.

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.