Immediate results of primary balloon dilation for congenital aortic valve stenosis predict the mid-term outcome.

BACKGROUND: Balloon valvuloplasty is the primary treatment for congenital aortic valve stenosis in our centre. We sought to determine independent predictors of reintervention (surgical repair or repeated balloon dilation) after primary valvuloplasty. METHODS: We retrospectively studied patients with congenital aortic valve stenosis who underwent balloon valvuloplasty during 2004-2018. The following risk factors were analysed: aortic valve insufficiency after balloon valvuloplasty >+1/4, post-procedural gradient across the aortic valve ≥35 mmHg, pre-interventional gradient across the valve, annulus size, use of rapid pacing, and balloon/annulus ratio. Primary outcome was aortic valve reintervention. RESULTS: In total, 99 patients (median age 4 years, range 1 day to 26 years) underwent balloon valvuloplasty for congenital aortic valve stenosis. After a mean follow-up of 4.0 years, 30% had reintervention. Adjusted risks for reintervention were significantly increased in patients with post-procedural aortic insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg (HR 2.55, 95% CI 1.13-5.75, p = 0.024). Pre-interventional gradient, annulus size, rapid pacing, and balloon/annulus ratio were not associated with outcome. CONCLUSION: Post-procedural aortic valve insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg in patients undergoing balloon valvuloplasty for congenital aortic valve stenosis confers an increased risk for reintervention in mid-term follow-up.

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.

Protein-losing enteropathy managed with percutaneous enlargement of a restrictive atrial septal defect.

Protein-losing enteropathy is one of the most feared complications of the Fontan circulation. The diagnosis of protein-losing enteropathy in this setting should prompt a thorough investigation for the presence of a treatable hemodynamic impairment. In this report, we describe a complete reversal of protein-losing enteropathy following percutaneous enlargement of a restrictive atrial septal defect in a patient with a fenestrated lateral tunnel Fontan and severe mitral stenosis.

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.

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

OBJECTIVE: The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome. DESIGN: Prospective study. SETTING: University Childrens Hospital in Belgrade, Serbia between 2005 and 2014. PARTICIPANTS: 57 patients with clinical characteristics of 22q11.2 deletion syndrome. METHODS: Standard 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 ligation-dependent 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 MEASURES: The 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). RESULTS: Typical 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%. CONCLUSION: A 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 low-income countries.

The Diagnosis of Prediabetes in Adolescents.

BACKGROUND: Prediabetes is characterized by isolated impaired fasting glucose (IFG), isolated impaired glucose tolerance (IGT), and combined IFG/IGT. This study aimed to establish the prevalence of prediabetes and examine possible contributory factors in a cohort of obese adolescents. METHODS: In this prospective study, we recruited 85 obese patients from the Obesity Clinic at the University Children's Hospital and 17 normal weight controls. All patients were of Caucasian origin, 60 males/42 females, aged 7.4-18.3 years, with at least Tanner 2 stage of puberty. RESULTS: Depending on criteria we used, insulin resistance was confirmed in 62-100% of obese patients, predominantly in the group with BMI SDS > 3. oGTT revealed isolated impaired fasting glucose (IFG) in 13.9%, impaired glucose tolerance (IGT) in 20.8% and combined IFG and IGT only in 2.8% of the obese patients. Patients in the prediabetes group were older (14±2.4 vs 12.8±2.5 p=0.04) and had higher glucose levels (p<0.001) during the whole oGTT compared to normal glucose tolerance (NGT) group. There was no difference between groups in respect to family history, BMI, lipids and fasting insulin. Insulinogenic index, WBISI and HOMA%B were significantly lower in the prediabetes group compared to the NGT group (p=0.07, 0.01 and 0.04 respectively). HbA1c level was measured in 58% of patients and was significantly higher in the prediabetes group (5.4±0.3 vs 5.7±0.4, p=0.002). CONCLUSION: Prediabetes occurrence was fairly high in our obese adolescents. Further studies should establish what would be the most appropriate screening test to diagnose these patients at risk for type 2 diabetes and initiate treatment without delay.

[The Role of Two-Dimensional Echocardiography in Diagnostics of Coarctation of the Aorta in Newborns].

INTRODUCTION: Diagnosis of neonatal coarctation of the aorta (CoA) still presents a challenge in routine practice because of absence of reliable morphologic and functional parameters for early detection of this congenital heart defect in newborns. OBJECTIVE: The aim of this study is to identify easy obtainable two-dimensional echocardiographic parameters for detection of the CoA in newborns. METHODS: Echocardiographic evaluation was performed in 30 newborns with CoA and 20 healthy neonates (control group). Measurements of the proximal transverse arch (PTA), distal transverse arch (DTA), isthmus, distance between the left common carotid artery (LCCA) at the origin of the left subclavian artery (LSA), were obtained by two-dimensional echocardiography. Aortic arch hypoplasia was defined using Mouleart, Karl and Mee criteria, and Z-value. Index 1 was calculated as a ratio of DTA and distance between origins LCCA-LSA, Index 2 was calculated as a ratio of the ascending aorta and the distance between LCCA-LSA origins, and Index 3 was calculated as a ratio of PTA and distance between LCCA-LSA origins. RESULTS: Index 1 was significantly lower in patients with CoA in comparison with control group (0.50 vs. 1.39; p≤0.01). A cut-off point at 0.39, for Index 1, showed a sensitivity of 92% and specificity of 99% for the diagnosis of neonatal CoA, while cut off points at 0.69 and 0.44, for Index 2 and Index 3, showed the highest sensitivity and specificity for the diagnosis of CoA in newborns. CONCLUSION: By using these echo indexes, two-dimensional echocardiographic aortic arch measurement becomes a simple, reliable noninvasive method for the evaluation of aortic coarctation in newborns and may lead to earlier diagnosis and subsequent surgical correction.

[Mid-term results after complete surgical correction of transposition of the great arteries].

INTRODUCTION: Arterial switch operation (ASO) is a cardiosurgical method of choice for complete anatomical correction of transposition of great arteries. Improvement of this procedure has made considerably improved the outcome and long-term prognosis of children born with this complex congenital heart disease. OBJECTIVE: The aim of this study was to estimate the success rate of ASO through retrospective analysis of mortality and late complications. METHODS: This study included 57 children operated from 1st January 2005 until 31st December 2009. Parameters that could influence the outcome of surgery were investigated. The following late complications were investigated: neopulmonary artery stenosis, neoaortic stenosis and regurgitation, as well as clinical signs of heart failure. RESULTS: Early postoperative mortality was 15.8% (9/57 patients). During follow-up (8 to 72 months, average 36.5 months) there were no lethal outcomes. On the last echocardiography examination, 73.2% patients had neoaortic regurgitation and 67.4% patients had neopulmonary regurgitation, but all of them were mild in intensity. Neopulmonary stenosis had 32.6% of patients, but only two had moderate or severe stenosis. No one had ischemic ECG changes. Three reinterventions were performed due to serious residual problems: surgical correction of neoaortic stenosis, surgical correction of neopulmonary stenosis and transcatether balloon dilatation for aortic recoarctation. At the end of the follow-up period, only one of 46 consistently followed patients had signs of heart failure which required therapy (2.2%), while the majority of patients were without any symptoms and with good effort tolerance. CONCLUSION: Arterial switch operation has been successfully performed at our institution, with acceptable perioperative mortality and excellent late outcome.

Balloon valvuloplasty as a treatment of congenital aortic stenosis in children and adolescents.

INTRODUCTION: Balloon valvuloplasty (BVP) is one of the primary therapies for congenital aortic stenosis in children and adolescents. The aim of this interventional procedure is to gain time before possible surgical therapy (aortic valve replacement) until adulthood. OBJECTIVE: The aim of this study was to evaluate the efficacy, safety and mid-term results oftranscatheter BVP in children and adolescent in our Center. METHODS: From 2004 to 2011, 50 patients, aged 18 days to 18 years (mean 6.3 years) underwent BVP. Retrospective analysis of the echocardiographic and hemodynamic parameters were performed before and after procedure, especially peak pressure gradient (PG) across the aortic valve, semiquantification of the aortic regurgitation (AR) after the BVP as well as the left ventricle dimensions and functions. RESULTS: The mean peak PG in the whole group decreased from 74.80 +/- 27.72 mm Hg to 27.86 +/- 3.04 mm Hg (p < 0.001) after BVP. In 39 patients (78%), residual PG was lower than 30 mm Hg just after dilation. At the end of follow-up period, 25 patients (50%) had PG above 50 mm Hg, measured by Doppler technique, and four of them underwent re-dilation. Eight patients (16%) had severe AR. During the follow-up period (12-80 months, mean 51 months), six patients (12%) were referred to cardiac surgeons for aortic valve replacement or Ross procedure. CONCLUSIONS: This retrospective study analyzes our first experience of BVP as primary therapy of the congenital aortic stenosis. The results confirmed that BVP effectively postponed the need for surgery in children and adolescents toward the adulthood.

Transcatheter stenting of arterial duct in duct-dependent congenital heart disease.

INTRODUCTION: Critical congenital heart diseases (CHD) are mostly duct-dependent and require stable systemic-pulmonary communication. In order to maintain patency of the ductus arteriosus (DA), the first line treatment is Prostaglandin E1 and the second step is the surgical creation of aortic-pulmonary shunt. To reduce surgical risk in neonates with the critical CHD, transcatheter stenting of DA can be performed in selected cases. CASE OUTLINE: A four-month old infant was diagnosed with the pulmonary artery atresia with ventricular septal defect (PAA/VSD). The left pulmonary artery was perfused from DA, and the right lung through three major aortopulmonary collaterals (MAPCAs). A coronary stent was placed in the long and critically stenotic DA, with final arterial duct diameter of 3.5 mm, and significantly increased blood supply to the left lung. After the procedure, the infant's status was improved with regard to arterial oxygen saturation, feeding and weight gain. During the follow-up, one year later, aortography revealed in-stent stenosis. The left pulmonary artery, as well as the branches, was well-developed and the decision was made to proceed with further surgical correction. CONCLUSION: Stenting of DA can be an effective alternative to primary surgical correction in selected patients with duct-dependent CHD.

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.

OBJECTIVES: The value of gated single-photon emission computed tomography technetium-99m methoxyisobutylisonitrile (gated SPECT (99m)Tc-MIBI) in children is not yet established probably because gated SPECT (99m)Tc-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 (99m)Tc-MIBI in children and adolescents with severe congenital heart disease (CHD). METHODS: Seventeen 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 (99m)Tc-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). RESULTS: Reversible myocardial perfusion defect was found in 7 of 11 children (64%) who underwent rest-stress gated SPECT (99m)Tc-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%. CONCLUSION: Poststress and rest-gated SPECT (99m)Tc-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 (99m)Tc-MIBI provides complementary information that may guide clinical decision making in children and adolescents with severe CHD.

[Mowat-Wilson syndrome--a case report]. / Muvat-Vilsonov sindrom--prikaz bolesnika.

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 Hirschsprung's 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: Hirschsprung's 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.