ABSTRACT
Objective To investigate the value of ECG-gated dual-source computed tomography angiography (DSCTA) in the diagnosis of single atrium (SA).Methods DSCTA was performed in 29 patients with SA.The classification diagnosis was made,and the complicated deformities were observed.Results Among 29 patients,atrial situs solitus was found in 14 (14/29,48.28％),atrial situs inversus was found in 6 (6/29,20.69％) and atrial situs ambiguous was found in 9 (9/29,31.03％,including right atrial isomerism in 8 and left atrial isomerism in 1 patient).The patients complicated with 39 kinds,totally 228 deformities.The bronchi and lung structures were found in the same position as atrium in 23 patients (23/29,79.31％),including atrial situs solitus in 13,right atrial isomerism in 7 and atrial situs inversus in 3 patients.Conclusion DSCTA can accurately diagnose SA and associated abnormalities.The features of bronchus and lung structures are helpful to identifying left and right atrial appendage.
ABSTRACT
El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.
Subject(s)
Humans , Infant , Male , Abnormalities, Multiple , Ellis-Van Creveld Syndrome/complications , Endocardial Cushion Defects/complications , Heart Atria/abnormalities , Tricuspid Atresia/complicationsABSTRACT
Objective To probe into the color Doppler echocardiographic characteristics of bilocular heart (BH) and associated malformations. Methods Twenty patients of BH were examined with color Doppler echocardiography (CDE) and the characteristics were observed. All the CDE results were compared with angiocardiography and 14 were confirmed by operation. Results Nineteen cases were properly diagnosed based on the CDE characteristics,1 case were misdiagnosed as mitral atresia. CDE characteristics of BH were obvious:① Apical four-chamber view of two-dimensional echocardiography (2DE) showed total echo dropout in both the interatrial septum and the interventricular septum and disappearance of the intracardiac "cross". The common atrioventricular valve closed during systole and appeared as figure "8", named 2DE "8" sign. During diastole, the common atrioventricular valve opened to a common ventricle. ② Color Doppler flow imaging (CDFI) showed common intra-atrial flow signal entereda common ventricle through common atrioventricular valve during diastole in all patients and colorful reflux through common atrioventricular valve during systole in 15 cases. ③ Among the 20 eases, 16 of the common atria were situs solitus,4 were situs inversus; 10 of the common ventricles were type A,2 were type B and 8 were type C. According to the spatial relationship of the great arteries,there were 4 type Ⅰ ,7 type Ⅱ and 9 type Ⅲ.There were 18 pulmonary stenosis and 2 pulmonary hypertension. ④ In the presence of pulmonary stenosis, CDFI showed colorful shunt signals through pulmonary artery during systole. Conclusions BH and associated malformations have obvious echocardiographic characteristics. CDE has a specific value in diagnosing BH and associated malformations.