Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations.

Neonatal Marfan syndrome (nMFS), phenotypically and genotypically distinct from the classical syndrome, is rarely diagnosed prenatally, and the cardiovascular prognosis is poor. This case report described one fetus diagnosed with nMFS by fetal echocardiography. The main features were cardiomegaly, and atrioventricular valves prolapse with moderate regurgitation and dilated great vessels. Extracardiac malformations included right diaphragmatic eventration, bilateral pyelectasis, and lengthy femur. Pathological examination confirmed the findings of fetal echo, and all cardiac valves were dysplastic. Sanger sequencing revealed a deletion mutation affecting exon 30 of the fibrillin 1 (FBN1) gene. Echocardiography is essential for prenatal diagnosis, and multivalve dysplasia is common among those patients.

[Feasibility of using intravascular loopless monopole antenna to image atherosclerotic plaque in a porcine model with 3.0 T magnetic resonance imaging].

OBJECTIVE: To investigate the feasibility of using intravascular loopless monopole antenna (ILMA) to image atherosclerosis plaque in a porcine model with 3.0T magnetic resonance imaging (MRI). METHODS: Atherosclerosis model was established by feeding high fat diet combined with balloon catheter injury to the endothelium in 6 pigs. After 3 months, animals underwent MRI and ILMA examination. The ILMA was invasively inserted to the distal part of abdominal vein and bilateral common iliac veins. MR sequences including T1 weighted imaging (T1WI), T2WI were obtained. MR image data were transferred to post-processing station. Luminal border and external elastic membrane of the vessel were reconstructed based on the MR images. After co-register these images, vessel area, lumen area, vessel wall area and plaque burden in the same lesions imaged by different modality were calculated and compared. Finally, all animals were scarified and hematoxylin eosin (HE) staining was performed in the targeted vessels. Diagnostic accuracy of MR in delineating vessel wall and detecting plaque were analyzed and calculated by comparing with pathological results. RESULTS: The atherosclerotic model was successfully established in all 6 pigs. Good agreement of delineating vessel area, lumen area vessel, wall area and plaque burden were found between MRI and pathology with r value of 0.98, 0.95, and 0.96, respectively (P < 0.001). Compared with pathological findings, the plaque component in corresponding area imaged by MR was as follows: sensitivity and specificity of detecting lipid plaque were 77% and 69%, kappa value was 0.75 ± 0.19 (P < 0.01); sensitivity and specificity on detecting fibrotic plaque were 78% and 73%, Κ value was 0.78 ± 0.18 (P < 0.01). The sensitivity and specificity of detecting calcified plaque were 100%. ILMA results showed that the average lumen area was 49.72 mm(2), average vessel area was 124.08 mm(2), and the average vessel wall area was 74.37 mm(2), ILMA slightly overestimated these indexes as compared with pathological results. CONCLUSION: The results showed that ILMA could be used to image deepened artery and atherosclerotic plaque. Detected plaque size, vessel area, lumen area vessel, wall area, and plaque burden were comparable to pathological findings. It may thus provide an alternative method for detecting atherosclerotic plaque in future research work.

Detection of atherosclerotic plaque progression in the abdominal aorta of rabbits with 3T magnetic resonance imaging.

BACKGROUND: With features of high tissue contrast, MRI can be used for the qualitative and quantitative evaluation of atherosclerosis plaques. In this study we investigated the development of atherosclerosis plaque with high resolution 3T MRI in a rabbit model and compared the findings with the histopathological results. METHOD: Twenty male New Zealand white rabbits were randomly allocated into an experimental group (n = 16) and a control group (n = 4). Atherosclerotic lesions were induced in the abdominal aorta by balloon injury and cholesterol feeding. Multiple sequences MRI examination (ToF, T1WI, T2WI, and CE T1WI) were performed at the 2nd, 3rd, and 4th months after aortic denudation. Vessel wall thickness, total vessel area, lumen area, and vessel wall area were recorded. Plaque components were analyzed using histological results as a standard reference. RESULTS: Seventeen rabbits (14 in the experimental group and 3 in the control group) received all three MR examinations. Gradually, from 2 months to 4 months, vessel wall thickness and area in the experimental group increased significantly compared with the control group (P < 0.01). In the lumen area progressive stenosis was not found, even a slight dilation had developed in the experimental group. Lipid, fibrotic and calcified plaques can be differentiated by MR image. According to histological results, MRI had good performance in detection of lipid plaque. CONCLUSION: MRI can be used to monitor progression of atherosclerosis and differentiate plaque components.

[Epididymal cyst in von Hippel-Lindau syndrome: clinicopathologic analysis of 3 cases].

OBJECTIVE: To investigate the clinicopathologic features of epididymal cyst in von Hippel-Lindau (VHL) syndrome. METHODS: We reviewed the clinical data of 3 epididymal cyst patients treated by surgery, and detected the expressions of HIF-1alpha, VEGF, alpha-SMA and CD34 in the epididymal tissue samples by the immunohistochemistry SP method. RESULTS: All the 3 patients underwent surgical removal of the epididymal cyst. Immunohistochemistry of the epididymal tissues showed HIF-1alpha, VEGF, alpha-SMA and CD34 to be positive. All the 3 cases were confirmed to be VHL syndrome, 1 right after surgery, and the other 2 within 8 years postoperatively. CONCLUSION: Epididymal cyst is a usual benign disease, which may occur independently of or be complicated by VHL syndrome. If immunohistochemistry of epididymal tissues shows HIF-1alpha, VEGF, alpha-SMA and CD34 to be positive, VHL syndrome should be considered, and further clinical examinations and post-operation follow-up are necessitated.

[Clinicopathologic analyses of non-compaction of ventricular myocardium].

OBJECTIVE: To investigate the clinicopathologic manifestations of non-compaction of ventricular myocardium (NVM). METHODS: Clinical data, electrocardiograms, echocardiography images and pathologic changes were studied in five cases of non-compaction of ventricular myocardium. RESULTS: The patient's ages ranged from 29 to 57 years old, all were males. Abnormal electrocardiograms were obtained in all of the 5 cases. Among them, 3 were diagnosed using echocardiography. Histopathologic examination showed that there were abnormally coarse muscle trabeculation and deep recesses, interlacing in arrangement, over the inner wall of the heart chambers. The compacted myocardium became thinning down gradually from the base to the apex of the heart. The non-compacted myocardium bundles locating close to the endocardium were coarse and orderless in arrangement, nuclei were irregular and abnormal, nevertheless, the arrangement and appearance of the muscle bundles near by the pericardium part were essentially normal and the cell nuclei were evenly distributed. CONCLUSION: There are no specific clinical manifestations obtained in patients with non-compaction of ventricular myocardium, however, the pathologic changes are characteristic and a clinical diagnosis can be made by using echocardiography.

[Effects of the total flavone of radix puerariae on apoptotic cell and apoptotic related-gene in atherosclerotic plaques of apoE gene deficiency mice].

OBJECTIVE: To investigate the anti atherosclerosis effect and related mechanisms of total flavone of radix puerariae (TFRP) on atherosclerotic plaques in apoE gene deficiency (apoE-/-) mice. METHODS: apoE-/- mice were treated with saline, TFRP 15 mg . kg(-1). d(-1) or TFRP 85 mg . kg-1. d-1 (n = 8 each group) respectively per gavage for 12 weeks. The apoptotic cells in atherosclerotic plaques were then detected by TUNEL analysis, transmission electron microscope (TEM). The expression of CD-68, SMA and Caspase-3 were determined by immunochemical methods. RESULTS: Early macrophage apoptosis signs were observed under TEM, TUNEL-positive and CD-68 positive cells were found in lipid cores of atherosclerotic plaques. TFRP significantly reduced the number of apoptotic cells in a dose-dependent manner [(0.38 +/- 0.17)%, (1.95 +/- 1.02)%, (10.50 +/- 5.89)%, respectively, P < 0.01] in atherosclerotic plaques. TFRP treatment also significantly reduced the immune expression of Caspase-3 protein in a dose-dependent manner. CONCLUSION: TFRP significantly attenuated the development of advanced atherosclerotic plaques in a dose-dependent manner which might related to down-regulated expression of Caspase-3 protein and reduced macrophage apoptotic cells in atherosclerotic plaques post TFRP treatment.