Pathogenesis, prenatal diagnosis and clinical features of fetal cardiomyopathies / 中华超声影像学杂志

Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.

Analysis of missed diagnosis of fetal mitral valve diseases by prenatal ultrasound / 中华超声影像学杂志

Objective@#To summarize the pathology and ultrasonic characteristics of fetal mitral valve diseases and improve their prenatal diagnostic accuracy by ultrasound.@*Methods@#Ultrasonic data of fetuses with mitral valve diseases, diagnosed by autopsy from January 2011 to December 2017 in Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories were retrospectively analyzed. Their ultrasound features and causes of missed diagnosis were analyzed.@*Results@#①The pathologic types included mitral atresia(22 cases, 59.5%), mitral valve dysplasia(13 cases, 35.1%) and mucoid degeneration[2 cases (1 case was diagnosed with Marfan syndrome with dilated aortic sinus and sinus of pulmonary trunk), 5.4%]. ②Fetal ultrasound could detect mitral atresia and mucoid degeneration of mitral valve. There were five cases of mitral valve dysplasia which were missed by ultrasound.And the accuracy rate of ultrasonic diagnosis was 86.5%(32/37). ③The missed subtypes of mitral valve dysplasia included mild-moderate mitral stenosis with coarctation of aorta (4 cases) and mitral valve dysplasia with functional aortic atresia(1 case).@*Conclusions@#Fetal mitral valve diseases involve a variety of anatomical abnormalities and the main types are mitral atresia and mitral valve dysplasia. Mucoid degeneration of mitral valve is rare and it may belong to Marfan syndrome when combined with dilated aortic sinus and sinus of pulmonary trunk. Fetal ultrasound can identify mitral atresia and mucoid degeneration of mitral valve, but it may miss the diagnosis of some subtypes of mitral valve dysplasia, such as mild-moderate mitral stenosis with aortic coarctation and mitral valve dysplasia with functional aortic atresia.

Analysis of cardiovascular misinterpretations of prenatal ultrasound diagnosis in fetuses with heterotaxia syndrome / 中华超声影像学杂志

Objective To explore the correlation between the cardiovascular ultrasound results and pathological findings of heterotaxia syndrome ,analyze the cause of the difference ,and improve the prenatal cardiovascular diagnostic accuracy of heterotaxia syndrome by ultrasound . Methods According to fetal autopsy or vessel casting , the ultrasound results of 37 fetuses with heterotaxia syndrome were retrospectively analyzed . The cardiovascular misinterpretations of ultrasound were summarized in the venous-atrialsegment,atrial-ventricular segment andventricular-arterial segment.Results ①Thirty fetuses underwent autopsy and seven fetuses vessel casting were included ,there were 10 fetuses with left atrial isomerism and 27 fetuses with right atrial isomerism .Only one left isomerism was misdiagnosed and the diagnostic accuracy of atrial isomerism by ultrasound was 97 .3％ . ② Thirty-seven fetuses with heterotaxia syndrome included 206 cardiovascular malformations . Twenty-seven misinterpretations of ultrasound were found and the rate of cardiovascular misinterpretations was 13 .1％ . ③ The cardiovascular misinterpretations of left atrial isomerism involved 1 secondary atrial septal defect in the atrial-ventricular segment and 1 aortic atresia ,2 anomalous position of arterial duct in the ventricular-arterial segment . ④The cardiovascular misinterpretations of right atrial isomerism in the venous-atrial segment included 4 common pulmonary vein atresia , 3 anomalous hepatic venous connection , 3 total abnormal pulmonary venous drainage , 2 persistent left superior vena cava and 2 abnormal inferior cava venous drainage . The cardiovascular misinterpretations of right atrial isomerism in the atrial-ventricular segment contained 2 secondary atrial septal defect ,1 unroofed coronary sinus and 1 partial atrioventricular septal defect . The cardiovascular misinterpretations of right atrial isomerism in the ventricular-arterial segment involved 3 double-outlet right ventricle ,1 truncus arteriosus and 1 anomalous position of arterial duct . Conclusions The correspondence between ultrasound results and pathological findings about cardiovascular malformations of heterotaxia syndrome is high . The most common cardiovascular misinterpretations of left atrial isomerism involve the ventricular-arterial segment . And the most common cardiovascular misinterpretations of right atrial isomerism involve the venous-atrial segment .

Analysis of missed diagnosis of fetal mitral valve diseases by prenatal ultrasound / 中华超声影像学杂志

Objective To summarize the pathology and ultrasonic characteristics of fetal mitral valve diseases and improve their prenatal diagnostic accuracy by ultrasound.Methods Ultrasonic data of fetuses with mitral valve diseases,diagnosed by autopsy from January 2011 to December 2017 in Fetal Heart Disease Maternal Fetal Medicine Research Important Laboratories were retrospectively analyzed.Their ultrasound features and causes of missed diagnosis were analyzed.Results ①The pathologic types included mitral atresia(22 cases,59.5％),mitral valve dysplasia(13 cases,35.1％)and mucoid degeneration[2 cases (1 case was diagnosed with Marfan syndrome with dilated aortic sinus and sinus of pulmonary trunk), 5 .4％].②Fetal ultrasound could detect mitral atresia and mucoid degeneration of mitral valve.There were five cases of mitral valve dysplasia which were missed by ultrasound.And the accuracy rate of ultrasonic diagnosis was 86.5％(32/37).③The missed subtypes of mitral valve dysplasia included mild-moderate mitral stenosis with coarctation of aorta(4 cases)and mitral valve dysplasia with functional aortic atresia(1 case).Conclusions Fetal mitral valve diseases involve a variety of anatomical abnormalities and the main types are mitral atresia and mitral valve dysplasia.Mucoid degeneration of mitral valve is rare and it may belong to Marfan syndrome when combined with dilated aortic sinus and sinus of pulmonary trunk.Fetal ultrasound can identify mitral atresia and mucoid degeneration of mitral valve,but it may miss the diagnosis of some subtypes of mitral valve dysplasia,such as mild-moderate mitral stenosis with aortic coarctation and mitral valve dysplasia with functional aortic atresia.

Clinicopathologic study of cardiac myxofibrosarcomas / 中华病理学杂志

Objective@#To investigate the clinicopathologic features of cardiac myxofibrosarcomas.@*Methods@#The clinical data, pathomorphologic and immunohistochemical features were evaluated in five cases of cardiac myxofibrosarcoma collected from January 2009 to December 2014, with relevant literature review.@*Results@#Five patients with cardiac myxofibrosarcoma, including four women and one man [age range 39-61 years; mean (50.4±9.0) years] were included. All tumors were broadbased and located mainly in the left atrium, with one case extending through the atrial wall and pericardium to the left lower lung lobe. The morphological grade was low in one case, intermediate in one, and high in three. Using Fédération Nationale des Centres de Lutte Contre le Cancer (FNLCC) grading system, one case was grade 1 and four cases were grade 2. Immunohistochemical analysis revealed diffuse and strong expression for vimentin in all cases. Smooth muscle actin and muscle specific actin were variably expressed. Complete tumor excision was performed in one case, and tumor debulking was performed in the other four cases. Clinical follow-up was available in three cases. One patient with en bloc excision of the tumor mass survived 13 months and the other two with tumor debulking died one month after surgery.@*Conclusions@#The most common location for cardiac myxofibrosarcoma is the left atrium. Some myxofibrosarcoma may be histologically bland and misdiagnosed as myxoma due to histological similarities. Thus caution should be exercised in their microscopic differentiation. Precise imaging, multidisciplinary approach and adequate initial surgery may contribute to improving the clinical outcomes of myxofibrosarcoma.

Clinical application value of echocardiography combined with genetic testing in fetal cardiac rhabdomyoma / 中华妇产科杂志

Objective To investigate the clinical value of echocardiography combined with genetic testing in the fetal cardiac rhabdomyoma. Methods Thirty-three fetal cardiac rhabdomyoma cases diagnosed by fetal echocardiogram in Beijing Anzhen Hospital from Jan. 2011 to Oct. 2015 were enrolled in a retrospective analysis. The results of other examination and pregnancy outcomes of them were followed up, the genetic characteristics of cardiac rhabdomyoma were summarized on the basis of pathology and genetics examination results. Results The pregnancy outcomes:24 cases were terminated pregnancy, 4 cases were born and 5 cases were lost. The results of ultrasound, pathology and genetic examination were detailed in 8 cases. Pathological examination: the typical characteristics of cardiac rhabdomyoma were found in the 8 cases with cardiac rhabdomyoma. The tumor tissue was composed of irregular and swelling shape of cardiomyocytes, and the cytoplasm was vacuole like, which was characteristic of“spider like cells”through microscopic observation. The geneticdetection results: 7 cases had tuberous sclerosis complex (TSC) gene mutation, TSC gene abnormalities were not detected in 1 case. Among the 7 cases with TSC gene mutations, 6 cases were with TSC2 gene mutation and the other 1 case was with TSC1 gene mutation. The family gene was investigated in the 5 cases, which including 3 cases of TSC gene mutation in mother passed on to the fetus (1 case with family of three generations of genetic) and 2 cases of spontaneous TSC gene mutation in the fetus. Conclusions Prenatal echocardiography combined with genetic detection have important clinical significance, which not only can clear if cardiac rhabdomyomas were associated with TSC, but also can clear the TSC gene mutation source. So as to further guide the perinatal management.

Autopsy findings of 19 cases of pulmonary vein abnormalities associated with fetal cardiac anomalies / 中华病理学杂志

<p><b>OBJECTIVE</b>To improve the diagnostic accuracy of fetal pulmonary venous abnormalities through the analysis of the fetal pulmonary vein anatomy.</p><p><b>METHODS</b>234 cases of congenital cardiac abnormalities were detected by echocardiography during pregnancy in An Zhen Hospital, Capital Medical University from May 2010 to August 2015. Autopsy was then performed. The type of fetal pulmonary venous malformation, cardiac abnormalities, systemic venous malformations, and other internal organs deformities were documented.</p><p><b>RESULTS</b>There were ninteen cases of pulmonary venous malformations among the 234 cases of fetal congenital heart disease. These included two cases of congenital pulmonary venous hypoplasia (CPVH) or atresia, four cases of partial anomalous pulmonary venous drainage (PAPVD), seven cases of total anomalous pulmonary venous drainage (TAPVD), five cases of atresia of common pulmonary vein (CPV), one case of congenital pulmonary venous hypoplasia with total anomalous pulmonary venous drainage. There were eleven cases with single ventricle, eight cases with right aortic arch, seven cases with single atrium and six cases with pulmonary valve stenosis. Eleven cases had pulmonary hypoplasia and nine cases had abnormal spleen.</p><p><b>CONCLUSIONS</b>There are many variations in pulmonary venous abnormalities associated with severe and complex cardiac abnormalities and internal organs malformation. Care should be exercised during autopsy examination to look for all branches of the pulmonary vein.</p>

Clinicopathologic features of intravenous leiomyomatosis with intracardiac extension / 中华病理学杂志

<p><b>OBJECTIVE</b>To investigate clinicopathological features, immunophenotype and differential diagnosis of intravenous leiomyomatosis with intracardiac extension.</p><p><b>METHODS</b>Clinical manifestations, morphologic features, and immunohistochemical staining were retrospectively analyzed in 19 cases of intravenous leiomyomatosis with intracardiac extension.</p><p><b>RESULTS</b>The patients' age ranged from 33 to 59 years (mean 44 years). Clinical presentation included chest tightness, palpitation, dyspnea, edema of low extremity, abdominal distention or hypermenorrhea. However, a few patients were asymptomatic. Grossly, intravenous leiomyomatosis in most cases demonstrated coiled or nodular growth within the myometrium with worm-like involvement of the uterine vein in broad ligament or other pelvic veins with continued extension into the vena cava and the heart. The intravenous tumor surface was generally smooth and rubbery, with a greyish-white color. Microscopically, the tumors were composed of spindle cells with rare mitotic figures and the presence of abundant thick-walled vessels. Marked fibrosis, hyalinization, myxoid and edematous changes were common. The tumor cells were positive for SMA, ER, PR and desmin but negative for HMB45 and S-100. CD10 and CD34 were positive in 4 patients and negative in the remaining cases.</p><p><b>CONCLUSION</b>Intravenous leiomyomatosis with intracardiac extension is a rare disease among women of child-bearing age, with specific morphologic manifestations and immunohistochemical profiles.</p>

Detection of thrombosis and plaque rupture in atherosclerotic rabbit model by using 3.0 T MR imaging / 中华放射学杂志

ObjectiveTo explore the imaging of the thrombosis after pharmacological triggering of plaque rupture in atherosclerotic rabbit model by using 3.0 T high-resolution magnetic resonance imaging.MethodsTwenty male New Zealand white rabbits were divided into an experimental group (n = 16) and a control group (n = 4).The aortic wall injuries were induced by an intravascular balloon in experimental group rabbits after high cholesterol diet.The pharmacological triggering with Russell's viper venom and histamine was performed after 3 months of establishment of model.All of the animals underwent pre-trigger and post-trigger MR examinations including 3D time of fight (3D TOF),T1 WI,T2WI and post contrast T1 WI.Euthanasia was performed in all rabbits and gross anatomy and histological specimen of aorta were obtained.Comparing the location and length of the thrombus between MRI images and histopathology was used Pearson test.Comparing the calculated indexes of abdominal aorta between rabbits with and without thrombosis was used AVONA test and LSD-t test.Results After triggering,8 in 14 survived rabbits developed thrombosis in experimental group,meanwhile,no thrombus was found in control group.The accuracy of multi-sequences MRI for detecting of thrombus was 87.1％ (27/31).MRI data correlated with the histopathology regarding thrombus length ( r = 0.85,P ＜ 0.01 ) and thrombus location ( r = 0.94,P＜0.01 ).Compared with rabbits without thrombosis,the rabbits with thrombosis had narrower lumen of abdominal aorta in the pre-triggered MR images [ ( 5.71 ± 2.38 )mm2 vs.( 8.93 ± 5.36) mm2,P ＜ 0.01 ].ConclusionMRI is useful tool to determine the thrombosis and plaque rupture in atherosclerotic rabbit model.