The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome

BACKGROUND: This study aimed to evaluate the cardiac outcome for children with microdeletion 22q11.2 and congenital heart defect (CHD). METHODS: A total of 49 consecutive children with 22q11.2 and CHD were retrospectively identified. The CHD consisted of tetralogy of Fallot and variances (n = 22), interrupted aortic arch (n = 10), ventricular septal defect (n = 8), truncus arteriosus (n = 6), and double aortic arch (n = 1). Extracardiac anomalies were present in 46 of 47 children. RESULTS: The median follow-up time was 8.5 years (range, 3 months to 23.5 years). Cardiac surgical repair was performed for 35 children, whereas 5 had palliative surgery, and 9 never underwent cardiac surgery. The median age at repair was 7.5 months (range, 2 days to 5 years). The mean hospital stay was 35 days (range, 7-204 days), and the intensive care unit stay was 15 days (range, 3-194 days). Significant postoperative complications occurred for 26 children (74%), and surgery for extracardiac malformations was required for 21 patients (43%). The overall mortality rate was 22% (11/49), with 1-year survival for 86% and 5-year survival for 80% of the patients. A total of 27 cardiac reinterventions were performed for 16 patients (46%) including 15 reoperations and 12 interventional catheterizations. Residual cardiac findings were present in 25 patients (71%) at the end of the follow-up period. CONCLUSIONS: Children with microdeletion 22q11.2 and CHD are at high risk for mortality and morbidity, as determined by both the severity of the cardiac lesions and the extracardiac anomalies associated with the microdeletion

Normal values for aortic diameters in children and adolescents--assessment in vivo by contrast-enhanced CMR-angiography

BACKGROUND: Contrast-enhanced CMR angiography (CE-CMRA) is being increasingly used for diagnosing aortic arch anomalies, planning interventions and follow-up assessment. We sought to establish normal values for the diameters of the thoracic aorta and reference curves related to body growth in children using CE-CMRA. RESULTS: CE-CMRA was performed in 53 children without cardiovascular disease. The median age was 9 years (range 2 - 20 years), weight 30 kg (range 12 - 75 kg), height 131 cm (range 81 - 184 cm), body surface area (BSA) 1.05 m2 (range 0.52-1.9 m2). Aortic diameters were measured at nine standardized sites on oblique maximum-intensity projection (MIP) images. Regression analysis of diameters in relation to BSA demonstrated linear relationship between the cross-sectional aortic diameters and the square root of BSA (BSA0.5). Normative diameters were (0.57 + 19.37*BSA0.5) mm for the aortic sinus, (-3.52 + 18.66*BSA0.5) mm for the first segment of the aortic arch, (-3.37 + 16.52*BSA0.5) mm for the isthmic region and (-1.27 + 9.89*BSA0.5) mm for the descending aorta at the level of the diaphragm. Normative curves are presented. CONCLUSION: This study provides normative values for aortic diameters in children measured by CE-CMRA. These data may serve for making the diagnosis of pediatric arch anomalies, assessing the need for treatment and planning interventions

Cardiac function after repair of tetralogy of fallot: how are the atria performing? pilot study by cardiac magnetic resonance imaging

The atria of the heart function as reservoir, conduit, and active pump and are critical for ventricular filling and cardiac output. We sought to evaluate right (RA) and left atrial (LA) function in patients after tetralogy of Fallot (TOF) repair by using cardiovascular magnetic resonance. Twelve TOF patients, age 16.7 ± 6.1 years, weight 50.9 ± 14.9 kg, were compared to 10 healthy volunteers, age 18.8 ± 6.8 years, weight 52.3 ± 20.8 kg. Both atria and both ventricles were imaged in short-axis planes by Steady State Free Precession. Volume changes and all derived atrial functional parameters were calculated from the volume/time curves obtained after segmentation on the cine images. Blood flow across the AV valves was used to define ventricular diastolic dysfunction. TOF patients showed similar maximal RA volume compared to controls, but increased volumes at mid-diastole (p < 0.05), resulting in a decreased cyclic volume change and atrial filling fraction (p < 0.01), and a decreased passive emptying volume and fraction (p < 0.01). In patients with diastolic dysfunction, conduit volume was increased (p < 0.05), and active emptying volume and fraction tended to be increased, respectively. No significant changes were found in LA, except for a decreased passive emptying fraction (p < 0.05). RA function and particularly reservoir function are impaired in TOF patients. The RA conduit/reservoir ratio is increased and reflects the lost of the ability of the atrium to fill the ventricle by pulsatile flow

Geometry and dimensions of the pulmonary artery bifurcation in children and adolescents: assessment in vivo by contrast-enhanced MR-angiography

We sought to establish normal values for the diameters of the main (MPA), right (RPA), and left (LPA) pulmonary arteries and for the angles describing the geometry of the pulmonary artery bifurcation in children by using contrast-enhanced magnetic resonance angiography (CE-MRA). CE-MRA was performed in 69 children without cardiovascular disease. The median age was 10 +/- 4.9 years (range 2-20), weight 37.4 +/- 18.5 kg (10-82), body surface area (BSA) 1.18 +/- 0.4 m(2) (0.48-2.07). The pulmonary artery diameters and angles were measured at standardized sites and projections. Regression analysis of diameters and angles in relation to BSA demonstrated linear relationship between the cross-sectional diameters of the pulmonary arteries and the square root of BSA (BSA(0.5)). Normalized mean diameters were for the MPA 17.6 +/- 5.1 mm/m(2), origin of RPA 13.1 +/- 2.9 mm/m(2), origin of LPA 14.2 +/- 2.9 mm/m(2). The MPA showed a mean antero-posterior inclination of 33 degrees +/- 8 degrees and a lateral leftward angulation of 18 degrees +/- 5 degrees . The mean angle of the bifurcation was 99.5 degrees +/- 10.3 degrees . Both side branches showed a supero-inferior course of the proximal segments, steeper for the RPA (7.7 degrees +/- 6.5 degrees ) than for the LPA (2.1 degrees +/- 7.8 degrees ). Normative curves in relation to BSA are presented for all measurements. This study provides normative values by CE-MRA for the main pulmonary artery and its side branches in children during somatic growth. These data can be used for identifying pulmonary arteries anomalies in children, and evaluate the need and the modality for treatment

Left ventricular non-compaction: Prevalence in congenital heart disease

INTRODUCTION: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease. METHODS: From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects. RESULTS: From a total of 202 patients with LVNC, 24 patients (12%; mean age 32±11years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%). CONCLUSION: In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC

Clinical guidelines for the management of patients with transposition of the great arteries with intact ventricular septum

n/