Objective: To explore the current situation of fetal heart defects in Yunnan Province and surrounding high altitude areas and the social factors affecting pregnancy outcome. Methods: This is a retrospective study. Pregnant woman who underwent fetal echocardiography and diagnosed as fetal cardiac defects in Yunnan Fuwai Cardiovascular Hospital from June 2017 to January 2021 were included. According to the clinical prognostic risk scoring system and grading criteria of fetal cardiac birth defects, the cases were divided into grade Ⅰ to Ⅳ. The disease distribution and proportion of each prognostic grade, pregnancy outcomes were analyzed and compared. The cases were divided into continued pregnancy group and terminated pregnancy group according to pregnancy outcome. The social factors that may affect the selection of pregnancy outcomes were analyzed by multivariate logistic regression analysis. Results: A total of 4 929 fetal echocardiography examination data were collected, and 4 464 cases (90.57%) were from Yunnan Province and surrounding high altitude areas. 2 166 cases of heart defects were finally analyzed, including 998 cases of congenital heart disease (CHD), 93 cases of cardiac tumors, cardiomyopathy and arrhythmia, 1 075 cases of foramen ovale, ductus arteriosus abnormalities and normal variations. The pregnant women were (29.2±5.0) years old with (25.6±3.8) gestational weeks. The number of cases with prognostic grade from Ⅰ to Ⅳ was 1 037 (47.88%), 620 (28.62%), 314 (14.50%), and 44 (2.03%), respectively. And 151 cases (6.97%) were not classified. The cases of normal variation and thin aortic arch development accounted for 42.66% (924/2 166), 5.22% (113/2 166), respectively. The top 3 diseases of grade Ⅱ were ventricular septal defect, coarctation of aorta and mild-moderate pulmonary stenosis, respectively, and their distribution was 11.63% (252/2 166), 3.92% (85/2 166) and 2.35% (51/2 166) respectively in all cases of heart defects, and 25.25% (252/998), 8.52% (85/998) and 5.11% (51/998) respectively in cases of CHD. Among the cases rated as grade Ⅲ and Ⅳ, most of them were complicated congenital heart disease, and the disease types are scattered. The more common cases in grade Ⅲ were complete transposition of great arteries (accounting for 2.40% (52/2 166) of all cases with heart defects, 5.21% (52/998) of all cases with CHD) and pulmonary artery occlusion (type Ⅰ to Ⅲ) with ventricular septal defect (accounting for 2.17% (47/2 166) of all cases with heart defects, and 4.71% (47/998) of all cases with CHD). In grade Ⅳ, single ventricle (0.74% (16/2 166) of all cases with heart defects, 1.60% (16/998) of all cases with CHD) and left ventricular dysplasia syndrome (0.65% (14/2 166) of all cases with heart defects, 1.40% (14/998) of all cases with CHD) are more common. A total of 1 084 cases were successfully followed up, and 675 cases were born, 392 cases were terminated, spontaneous abortion occurred in 17 cases. The proportion of terminated pregnancy cases was significantly increased from grade Ⅰ to Ⅳ, accounting for 5.24% (21/401), 27.78% (70/252), 89.54% (214/239) and 95.56% (43/45), respectively. Among the terminated pregnancy cases, those with grade Ⅲ accounted for the highest proportion (54.59% (214/392)). The distribution of terminated pregnancy cases was mainly complex congenital malformations or diseases with very poor prognosis (pregnancy outcome grade Ⅲ and Ⅳ), and proportion of terminated pregnancy with pregnancy outcome grade Ⅰ and Ⅱ cases (normal variation or good prognosis) accounted for 5.36% (21/392) and 17.86% (70/392), respectively. The results of multivariate logistic regression analysis showed that pregnant women with low education (high school and below: OR=2.73, 95%CI 1.26-5.93, P<0.001; illiteracy: OR=3.27, 95%CI 1.29-7.10, P<0.001) and low family income (Annual income<100 000 yuan: OR=2.47, 95%CI 1.69-5.12, P<0.001) were more likely to choose termination of pregnancy in case of fetal heart defect. Conclusion: In Yunnan province and the surrounding high altitude areas, the disease distribution of fetal heart defect is mainly simple or low-risk disease, but the complex malformation, especially the disease with poor pregnancy outcome, accounts for a relative high proportion. Pregnancy termination also occurs in some cases with good pregnancy outcome. The education level and family income of pregnant women may affect their choice of pregnancy outcome in case of fetal heart defect.
Pregnancy ; Female ; Humans ; Young Adult ; Adult ; Retrospective Studies ; Altitude ; China/epidemiology* ; Heart Defects, Congenital/diagnostic imaging* ; Heart Septal Defects, Ventricular ; Echocardiography ; Fetal Heart/diagnostic imaging*

Heart Defects, Congenital/diagnosis* ; Humans ; Hypertension ; MicroRNAs/genetics* ; Pulmonary Arterial Hypertension ; Pulmonary Artery/diagnostic imaging*

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

Coronary artery problems in children usually have a significant impact on both short-term and long-term outcomes. Early and accurate diagnosis, therefore, is crucial but technically challenging due to the small size of the coronary artery, high heart rates, and limited cooperation of children. Coronary artery visibility on CT and MRI in children is considerably improved with recent technical advancements. Consequently, CT and MRI are increasingly used for evaluating various congenital and acquired coronary artery abnormalities in children, such as coronary artery anomalies, aberrant coronary artery anatomy specific to congenital heart disease, Kawasaki disease, Williams syndrome, and cardiac allograft vasculopathy.
Child ; Child, Preschool ; Coronary Angiography/*methods ; Coronary Vessel Anomalies/*radiography ; Coronary Vessels/*radiography ; Diagnostic Imaging ; Echocardiography/methods ; Female ; Heart Defects, Congenital/radiography ; Heart Diseases/diagnosis/*radiography ; Heart Rate ; Humans ; Magnetic Resonance Angiography/*methods ; Male ; Mucocutaneous Lymph Node Syndrome/radiography ; Tomography, X-Ray Computed/methods

Diagnosis, Differential ; Echocardiography, Doppler, Color ; Heart Defects, Congenital ; diagnosis ; physiopathology ; Humans ; Infant, Newborn ; Male ; Pneumonia ; diagnosis ; physiopathology ; Pulmonary Artery ; abnormalities ; diagnostic imaging ; physiopathology ; Tomography, X-Ray Computed ; Trachea ; abnormalities ; diagnostic imaging ; Vascular Malformations ; diagnosis ; physiopathology

OBJECTIVETo screen for genomic copy number variations (CNVs) in two unrelated neonates with multiple congenital abnormalities using Affymetrix SNP chip and try to find the critical region associated with congenital heart disease.

METHODTwo neonates were tested for genomic copy number variations by using Cytogenetic SNP chip.Rare CNVs with potential clinical significance were selected of which deletion segments' size was larger than 50 kb and duplication segments' size was larger than 150 kb based on the analysis of ChAs software, without false positive CNVs and segments of normal population. The identified CNVs were compared with those of the cases in DECIPHER and ISCA databases.

RESULTEleven rare CNVs with size from 546.6-27 892 kb were identified in the 2 neonates. The deletion region and size of case 1 were 8p23.3-p23.1 (387 912-11 506 771 bp) and 11.1 Mb respectively, the duplication region and size of case 1 were 8p23.1-p11.1 (11 508 387-43 321 279 bp) and 31.8 Mb respectively. The deletion region and size of case 2 were 8p23.3-p23.1 (46 385-7 809 878 bp) and 7.8 Mb respectively, the duplication region and size of case 2 were 8p23.1-p11.21 (12 260 914-40 917 092 bp) and 28.7 Mb respectively. The comparison with Decipher and ISCA databases supported previous viewpoint that 8p23.1 had been associated with congenital heart disease and the region between 7 809 878-11 506 771 bp may play a role in the severe cardiac defects associated with 8p23.1 deletions. Case 1 had serious cardiac abnormalities whose GATA4 was located in the duplication segment and the copy number increased while SOX7 was located in the deletion segment and the copy number decreased.

CONCLUSIONThe region between 7 809 878-11 506 771 bp in 8p23.1 is associated with heart defects and copy number variants of SOX7 and GATA4 may result in congenital heart disease.

Abnormalities, Multiple ; diagnostic imaging ; genetics ; Chromosome Deletion ; Chromosome Duplication ; genetics ; Chromosome Inversion ; Chromosomes, Human, Pair 8 ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Female ; Heart Defects, Congenital ; diagnostic imaging ; genetics ; Humans ; Infant, Newborn ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Ultrasonography

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

OBJECTIVE: To investigate the clinical significance of 3-vessel subsequence view in prenatal screening and diagnosis of fetal congenital heart disease. METHODS: The 3-vessel subsequence view of 231 fetuses with congenital heart disease was obtained with Sequoia 512, Voluson 730 and E8 color Doppler ultrasonographic diagnostic system. RESULTS: Of the 231 consecutive fetuses with congenital heart defects (CHD), 169 (73%) had at least 1 abnormality on the 3-vessel subsequence view. When ventricl septal defects and so on were excluded, the detection rate increased to 91%. Some defects had several abnormalities visualized at the 3-vessel subsequence view. CONCLUSION The 3-vessel subsequence view has high detection rate in identifying the presence of CHD.
Female ; Fetal Diseases ; diagnostic imaging ; Fetus ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Pregnancy ; Ultrasonography, Prenatal

BACKGROUNDAccurate evaluation of coronary artery, aortic valve annulus diameter (AVAD), and cardiac function in patients with aortic valve disease is of great significance for surgical strategy. In this study, we explored the preoperative evaluation of low-dose sequence (MinDose sequence) scan of dual-source CT (DSCT) for those patients.

METHODSForty patients suspected for aortic valve disease (the experimental group) underwent MinDose sequence of DSCT to observe coronary artery, AVAD, and left ventricular ejection fraction (LVEF). Another 33 subjects suspected for coronary artery disease (the control group) underwent conventional retrospective electrocardiographically-gated sequence of DSCT. Two-dimensional transthoracic echocardiography (2D-TTE) and four-dimensional transthoracic echocardiography (4D-TTE) were applied in the experimental group to measure AVAD and LVEF and compared with MinDose-DSCT.

RESULTSThere was a strong correlation between LVEFs measured by 2D-TTE and MinDose-DSCT (r = 0.87, P < 0.01), as well as between 4D-TTE and MinDose-DSCT (r = 0.90, P < 0.01). AVAD measured by MinDose-DSCT was in good agreement with corresponding measurements by 2D-TTE (r = 0.90, P < 0.01). The effective dose in the experimental group was 63.54% lower than that in the control group.

CONCLUSIONSMinDose sequence of DSCT with a low radiation dose serving as a one-stop preoperative evaluation makes effective assessment of the coronary artery, AVAD, and LVEF for patients with aortic valve disease.

Adult ; Aged ; Aortic Valve ; diagnostic imaging ; Echocardiography ; Female ; Heart Defects, Congenital ; diagnostic imaging ; Heart Valve Diseases ; diagnostic imaging ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Tomography, X-Ray Computed

OBJECTIVETo study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease.

METHODSA total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction.

RESULTSForty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; P<0.05). There were no significant differences in the incidence rate of bronchial dysplasia between the children with congenital heart disease who had a large vascular malformation and who did not.

CONCLUSIONSBronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

Adolescent ; Bronchi ; abnormalities ; embryology ; Child ; Child, Preschool ; Female ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Imaging, Three-Dimensional ; Infant ; Male ; Tomography, X-Ray Computed