Objective: To investigate the representability and etiological diagnostic value of myocardium samples obtained from patients with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography-guided percutaneous intramyocardial septal biopsy (myocardial biopsy of Liwen procedure). Methods: This study was a retrospective case-series analysis. Patients with HCM, who underwent myocardial biopsy of Liwen procedure and radiofrequency ablation in Xijing Hospital, Air Force Military Medical University from July to December 2019, were included. Demographic data (age, sex), echocardiographic data and complications were collected through electronic medical record system. The histological and echocardiographic features, pathological characteristics of the biopsied myocardium of the patients were analyzed. Results: A total of 21 patients (aged (51.2±14.5) years and 13 males (61.9%)) were enrolled. The thickness of ventricular septum was (23.3±4.5)mm and the left ventricular outflow tract gradient was (78.8±42.6)mmHg (1 mmHg=0.133 kPa). Eight patients (38.1%) were complicated with hypertension, 1 patient (4.8%) had diabetes, and 2 patients (9.5%) had atrial fibrillation. Hematoxylin-eosin staining of myocardial samples of HCM patients before radiofrequency ablation evidenced myocytes hypertrophy, myocytes disarray, nuclear hyperchromatism, hypertrophy, atypia, coronary microvessel abnormalities, adipocyte infiltration, inflammatory cell infiltration, cytoplasmic vacuoles, lipofuscin deposition. Interstitial fibrosis and replacement fibrosis were detected in Masson stained biopsy samples. Hematoxylin-eosin staining of myocardial samples of HCM patients after radiofrequency ablation showed significantly reduced myocytes, cracked nuclear in myocytes, coagulative necrosis, border disappearance and nuclear fragmentation. Quantitative analysis of myocardial specimens of HCM patients before radiofrequency ablation showed that there were 9 cases (42.9%) with mild myocardial hypertrophy and 12 cases (57.1%) with severe myocardial hypertrophy. Mild, moderate and severe fibrosis were 5 (23.8%), 9 (42.9%) and 7 (33.3%), respectively. Six cases (28.6%) had myocytes disarray. There were 11 cases (52.4%) of coronary microvessel abnormalities, 4 cases (19.0%) of adipocyte infiltration, 2 cases (9.5%) of inflammatory cell infiltration,6 cases (28.5%) of cytoplasmic vacuole, 16 cases (76.2%) of lipofuscin deposition. The diameter of cardiac myocytes was (25.2±2.8)μm, and the percentage of collagen fiber area was 5.2%(3.0%, 14.6%). One patient had severe replacement fibrosis in the myocardium, with a fibrotic area of 67.0%. The rest of the patients had interstitial fibrosis. The myocardial specimens of 13 patients were examined by transmission electron microscopy. All showed increased myofibrils, and 9 cases had disorder of myofibrils. All patients had irregular shape of myocardial nucleus, partial depression, mild mitochondrial swelling, fracture and reduction of mitochondrial crest, and local aggregation of myofibrillary interfascicles. One patient had hypertrophy of cardiomyocytes, but the arrangement of muscle fibers was roughly normal. There were vacuoles in the cytoplasm, and Periodic acid-Schiff staining was positive. Transmission electron microscopy showed large range of glycogen deposition in the cytoplasm, with occasional double membrane surround, which was highly indicative of glycogen storage disease. No deposition of glycolipid substance in lysozyme was observed under transmission electron microscope in all myocardial specimens, which could basically eliminate Fabry disease. No apple green substance was found under polarized light after Congo red staining, which could basically exclude cardiac amyloidosis. Conclusion: Myocardium biopsied samples obtained by Liwen procedure of HCM patients are representative and helpful for the etiological diagnosis of HCM.
Biopsy/adverse effects* ; Cardiomegaly/pathology* ; Cardiomyopathy, Hypertrophic/diagnosis* ; Eosine Yellowish-(YS) ; Fibrosis ; Heart Defects, Congenital ; Hematoxylin ; Humans ; Lipofuscin ; Male ; Myocardium/pathology* ; Retrospective Studies

OBJECTIVETo improve the diagnostic accuracy of fetal pulmonary venous abnormalities through the analysis of the fetal pulmonary vein anatomy.

METHODS234 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.

RESULTSThere 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.

CONCLUSIONSThere 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.

Autopsy ; Female ; Fetal Diseases ; Heart Defects, Congenital ; diagnosis ; Humans ; Pregnancy ; Pulmonary Veins ; abnormalities ; Spleen ; pathology

Aorta, Thoracic ; pathology ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; diagnosis ; mortality ; Humans ; Infant ; Infant, Newborn ; Male ; Vascular Malformations ; diagnosis ; mortality

BACKGROUNDFetal congenital heart anomalies are the most common congenital anomalies in live births. Fetal echocardiography (FECG) is the only prenatal diagnostic approach used to detect fetal congenital heart disease (CHD). FECG is not widely used, and the antenatal diagnosis rate of CHD varies considerably. Thus, mastering the anatomical characteristics of different kinds of CHD is critical for ultrasound physicians to improve FECG technology. The aim of this study is to investigate the applications of a fetal CHD anatomic database in FECG teaching and training program.

METHODSWe evaluated 60 transverse section databases including 27 types of fetal CHD built in the Prenatal Diagnosis Center in Peking University People's Hospital. Each original database contained 400-700 cross-sectional digital images with a resolution of 3744 pixels × 5616 pixels. We imported the database into Amira 5.3.1 (Australia Visage Imaging Company, Australia) three-dimensional (3D) software. The database functions use a series of 3D software visual operations. The features of the fetal CHD anatomical database were analyzed to determine its applications in FECG continuing education and training.

RESULTSThe database was rebuilt using the 3D software. The original and rebuilt databases can be displayed dynamically, continuously, and synchronically and can be rotated at arbitrary angles. The sections from the dynamic displays and rotating angles are consistent with the sections in FECG. The database successfully reproduced the anatomic structures and spatial relationship features of different fetal CHDs. We established a fetal CHD anatomy training database and a standardized training database for FECG. Ultrasound physicians and students can learn the anatomical features of fetal CHD and FECG through either centralized training or distance education.

CONCLUSIONSThe database of fetal CHD successfully reproduced the anatomic structures and spatial relationship of different kinds of fetal CHD. This database can be widely used in anatomy and FECG teaching and training.

Cross-Sectional Studies ; Databases, Factual ; Female ; Fetus ; Heart Defects, Congenital ; diagnostic imaging ; pathology ; Humans ; Male ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVETo investigate the clinical manifestations and treatment of congenital atresia of the left main coronary artery (CLMCA-A).

METHODFour patients were diagnosed to have CLMCA-A from June 2010 to June 2012 in Beijing Anzhen Hospital. Clinical manifestations, ultrasound, ECG and angiographic characteristics were analyzed and summarized.

RESULTOf the 4 cases, age of onset was 3 months to 2 yrs. Three cases were diagnosed by angiography, and 1 case by CTA . All 4 cases had chronic heart failure symptoms and signs, such as sweating, shortness of breath, easily choked by milk, predispose to pneumonia, activity intolerance. ECG showed abnormal Q wave and other ischemic signs such as ST-T segment depression. Ultrasonography showed left ventricular enlargement, left ventricular systolic function was normal or slightly reduced, and there was moderate to large amount of mitral valve regurgitation. Left ventricular trabeculations increased. Coronary collateral circulation increased. Left coronary artery appeared to be slender and disconnected with left coronary artery sinus. Aortic root angiography was the golden diagnostic standard. Angiography was performed in 3 patients and showed that left main coronary artery had a blind end, diameter 1.1-2.0 mm. The right coronary artery was found rising from the right coronary sinus and visible on coronary collateral circulation. Contrast agent developing sequence: right coronary artery-collateral vessels-left coronary artery distal branches-left main coronary artery. CTA exam was performed in 2 cases and in 1 case the diagnoses was confirmed. All the 4 patients are currently in the close follow-up, digoxin and diuretics were taken everyday and clinical symptoms were improved.

CONCLUSIONCLMCA-A is not rare, its clinical manifestations should be differentiated from those of cardiomyopathy, endocardial fibroelastosis, congenital valvular disease and abnormal left coronary artery originating from pulmonary artery etc. For pediatric patients with cardiac enlargement, abnormal heart function, mitral valve regurgitation etc, attention must be paid to consider the developmental abnormality of coronary artery, particularly the CLMCA-A diagnosis.

Child ; Child, Preschool ; Coronary Angiography ; methods ; Coronary Vessel Anomalies ; diagnosis ; pathology ; Coronary Vessels ; diagnostic imaging ; pathology ; Diagnosis, Differential ; Echocardiography ; Electrocardiography ; Endocardial Fibroelastosis ; diagnosis ; pathology ; Female ; Heart Defects, Congenital ; diagnosis ; pathology ; Humans ; Infant ; Male ; Mitral Valve Insufficiency ; diagnosis ; pathology ; Pulmonary Artery ; abnormalities ; diagnostic imaging ; Tomography, X-Ray Computed ; methods

OBJECTIVETo investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly.

METHODThe clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH).

RESULT(1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good.

CONCLUSIONDiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.

Cells, Cultured ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; genetics ; DiGeorge Syndrome ; diagnosis ; genetics ; immunology ; Female ; Heart Defects, Congenital ; diagnosis ; genetics ; Humans ; Hypocalcemia ; diagnosis ; genetics ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Male ; T-Lymphocytes ; immunology ; Thymus Gland ; immunology ; pathology

Congenital left ventricular diverticulum is a very rare cardiac abnormality and it is not completely understood about its etiology, clinical manifestation, diagnosis, treatment and prognosis. This article presents a case of large congenital diverticulum of the left ventricle. The clinical manifestation included paroxysmal supraventricular tachycardia. The diagnosis was made by chest fluoroscopy observation and confirmed by 64-slice CT-angiography. The arrhythmia alleviated instead of antiarrhythmic drugs but by radiofrequency catheter ablation. Due to the rapid growth of the diverticulum, the patient underwent surgical resection finally. Owing to the fatal risks, clinicians should improve the understanding of this disease by deeply studying more cases, in order to standardize the treatment.
Adult ; Diverticulum ; diagnosis ; Female ; Fluoroscopy ; methods ; Heart Defects, Congenital ; diagnosis ; Heart Ventricles ; pathology ; Humans ; Young Adult

OBJECTIVETo investigate etiology and airway management in children with tracheobronchomalacia.

METHODBronchoscopic examinations were performed in 671 children. The cases with tracheomalacia and bronchomalacia were analyzed in etiopathogenesis and summarized their therapy simultaneously.

RESULTBronchoscopic examination indicated tracheomalacia and bronchomalacia in 148 cases, tracheomalacia in 77 cases and bronchomalacia in 71 cases. Among the cases with tracheomalacia, compression by vascular rings was found in 46 cases, incorporated congenital esophageal atresia with tracheoesophageal fistula was found in 5 cases, tracheomalacia was associated with tracheostoma and mechanical ventilation in 6 cases, with congenital airway malformation in 11 cases and isolated tracheomalacia was found in 4 cases. Among the cases with bronchomalacia, incorporated congenital cardiovascular malformation was found in 64 cases, congenital airway malformation in 6 cases and isolated bronchomalacia in 1 case. Ten children with anomalous innominate artery underwent aortopexy, twelve children with dextro-aorta arch with concomitant aberrant left subclavian artery and double aorta underwent arches vascular ring lysis, six children with pulmonary sling underwent plasty. Severe malacia segments were resected directly in four children during operation. Mechanical ventilation was performed in 38 children. Tracheostoma was performed in 4 children to treat tracheomalacia and bronchomalacia, it could relieve symptom to a certain extent. In 2 children metal stents were inserted into the bronchus for the treatment of bronchomalacia, one was successful and the other needed re-insertion of stent again, these two patients underwent balloon-dilatation in distal part of stent afterwards.

CONCLUSIONThe congenital cardiovascular malformation was the main reason to develop tracheobronchomalacia in children. The symptom of majority of the cases with cardiovascular malformation would be improved within 6 months after surgical intervention. In severe cases, treatments included mechanical ventilation and tracheostoma. Stenting could be applied in refractory cases, but it had certain limitations.

Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; complications ; therapy ; Humans ; Infant ; Male ; Stents ; Trachea ; pathology ; Tracheal Stenosis ; etiology ; therapy ; Tracheobronchomalacia ; diagnosis ; etiology ; therapy

BACKGROUNDThe incidence of congenital heart disease has been studied in developed countries for many years, but rarely in the mainland of China. Fetal echocardiographic screening for congenital heart disease was first performed in Beijing in the early 2000s, but the impact was not clear. The current study was undertaken to determine the incidence of congenital heart disease in Beijing, China and to estimate the impact of fetal echocardiography on the incidence of liveborn congenital heart disease.

METHODSThe study involved all infants with congenital heart disease among the 84 062 total births in Beijing during the period of January 1 and December 31, 2007. An echocardiographic examination was performed on every baby suspected to have congenital heart disease, prenatally or/and postnatally.

RESULTSA total of 686 infants were shown to have congenital heart disease among 84 062 total births. The overall incidence was 8.2/1000 total births. Mothers of 128 of 151 babies diagnosed prenatally were chosen to terminate the pregnancy. Two of the 151 infants died in utero. A specific lesion was identified for each infant and the frequencies of lesions were determined for each class of infants (total births, stillbirths and live births). The incidence of congenital heart disease in stillbirths and live births was 168.8/1000 and 6.7/1000, respectively. The difference between the incidence of total birth and the incidence of live birth was statistically significant (P < 0.001).

CONCLUSIONSThe incidence of liveborn congenital heart disease in Beijing is within the range reported in developed countries. Fetal echocardiography reduce significantly the incidence of liveborn congenital heart disease.

China ; epidemiology ; Echocardiography ; Female ; Fetal Heart ; diagnostic imaging ; Heart Defects, Congenital ; diagnostic imaging ; epidemiology ; pathology ; Humans ; Incidence ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; methods ; Stillbirth ; epidemiology

Background: Open heart surgery with cardiopulmonary bypass (CPB) causes haemostatic abnormalities which result in postoperative excessive bleeding. Objectives: To investigate haemostatic disorders before - after CPB and postoperative bleeding. Subjects and methods: Sixty congenital cardiac patients with and without cyanosis were recruited consecutively. Hematology and coagulation tests were done 1 day before operation, 15 minutes after protamine administration, 2 and 6 hours after the operation in the intensive care unit (lCU). Mediastinal chest tube drainage (MCTO) was measured for the first 6h in the ICU. Results: Significant differences between 2 groups could be found for red blood cells, hemoglobin, hematocrit, fibrinogen, D-dimer, fibrinogen degradation products (FOP), von Kaulla and platelet aggregation to epinephrine before operation (p < 0.05). There were not significant differences in platelets, PT, APTT, platelet aggregation to adenosine diphosphate (AOP) in the acyanotic and cyanotic patients (p > 0.05). Most hematology parameters were decreased significantly and hemostasis measurements were prolonged after operation in both groups (p < 0.05). There was also the significant difference in MCTO between 2 groups (p < 0.05). Conclusion: Coagulation, hemostasis and fibrinolysis disorders; thrombocytopenia and acquired transient platelet dysfunction may be responsible for bleeding complications after CBP \r\n', u'\r\n', u'
Heart Defects ; Congenital/ pathology ; epidemiology ; Hemostatic Disorders/ pathology ; diagnosis