In children with obstructed TAPVC, plain radiographs usually show a characteristic pattern of pulmonary venous congestion or edema, or both, and a normal cardiac silhouette. CT angiography is superior to transthoracic echocardiography in the evaluation of pulmonary venous drainage and obstruction, especially in children with infracardiac and mixed TAPVC.

The purpose of this study was to assess the reliability of multidetector CT (MDCT) angiography and three-dimensional (3D) reconstruction in patients with coarctation of the aorta. Sixteen patients (median age, 2 months; range, 15 days to 28 months) with suspected coarctation of the aorta underwent both color Doppler echocardiography (CDE) and MDCT. In addition to the CT axial slices, 3D reconstructions such as volume rendering and multiple planar reformation were used to diagnose coarctation and associated cardiac abnormalities. The sensitivities of diagnosis were evaluated compared with MDCT and echocardiography and surgical findings. Sixteen cases were diagnosed as coarctation of the aorta by MDCT. This included hypoplasia of the aortic arch (n = 5). The results were confirmed at the time of surgery. Diagnosis sensitivities of coarctation were 87.5% for axial and 100% for both multiplanar and 3D volume-rendered images. Moreover, MDCT was able to clearly display the location and extent of the coarctation. Focal defects were observed in 14 cases, and diffuse defects in 2 cases. The sensitivity of MDCT diagnosis for coarctation of the aorta was 100%, which was higher than that of CDE (87.5%). Ventricular septum defect was diagnosed by MDCT in 11 cases, with 1 missed, and the sensitivity was 91.7% (11/12), which was lower than that of CDE (100%; 12/12). In addition, six patients had patent ductus arteriosus. Two patients in this study had collateral vessel formation. We conclude that CTA with 3D reconstruction represents a reliable noninvasive technique for the assessment of coarctation. It may serve as a noninvasive diagnostic tool before intervention or surgical treatment.

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We aimed to compare the diagnostic value of indexed right ventricular end-diastolic volume (RVEDVi) and the ratio of right ventricle volume to left ventricle volume (RV/LV ratio) in prediction of the severity of pulmonary regurgitation (PR) expressed as the PR fraction (PRF) after surgery of tetralogy of Fallot (TOF). Forty-one patients with repaired TOF were included in the study. RVEDVi, LVEDVi, RV/LV ratio, PRF and ejection fraction were measured with magnetic resonance imaging. A PRF of more than 20% was considered significant. The predictive capability of two markers (RVEDVi and RV/LV ratio) for significant PR was compared using multivariate linear regression analysis and receiver operating characteristic (ROC) analysis. Both the RV/LV ratio and RVEDVi showed a correlation with PRF (r = 0.526/0.321, p = 0.001/0.041) in the correlation analysis, but in multivariate regression analysis the only independent predictor of PRF was the RV/LV ratio (F = 14.890, p = 0.001). ROC analysis revealed that a better discrimination of significant PR (>20%) from slight types (=20%) PR can be reached with the RV/LV ratio than RVEDVi (AUC = 0.805/0.709, p = 0.01). The RV/LV ratio was better than RVEDVi at differentiating mild from moderate PR (p = 0.006 vs. p = 0.153), and proved superior over RVEDVi in predicting PR based on the PRF criterion.

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BackgroundTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological set of criteria and/or a causative mutation in TSC1 or TSC2 gene.Case presentationWe report a Chinese TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. The older child had seizures. A novel heterozygous missense variant in the TSC2 gene (c.899G > T, p.G300 V) was identified and shown to be inherited from their father as well as paternal grandfather, both of whom presented with variable TSC-associated signs and symptoms.ConclusionWe identified a novel heterozygous TSC2 variant c.899G > T as the causative mutation in a Chinese family with TSC, resulting in wide intrafamilial phenotypic variability. Our study illustrates the importance of clinical evaluation and genetic testing for family members of the patient affected with TSC.

Coronary 64-slice MDCT angiography depicted the whole shape and course of the CAF as well as of the surrounding structures. It may serve as a noninvasive diagnostic tool when planning a therapeutic strategy.

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