Echocardiographic diagnosis of special type of atrioventricular septal defect / 中华超声影像学杂志

Objective:To improve the understanding of special type of atrioventricular septal defect (AVSD) and reduce clinical missed diagnosis and misdiagnosis by investigating its echocardiographic features.Methods:Echocardiographic images of patients with special type of AVSD diagnosed by echocardiography and confirmed by surgery in Pediatric Cardiovascular Center, Beijing Anzhen Hospital, Capital Medical University from November 2011 to November 2021 were retrospectively analyzed. Depending on the presence of ventricular septal defect(VSD), special type of AVSD were divided into two types, namely AVSD with intact ostium primum and AVSD with intact ostium primum and ventricular septum. The echocardiographic features of special type of AVSD were summarized.Results:Twenty-five cases of special type of AVSD were diagnosed by echocardiography and 13 cases were confirmed by surgery, including 12 cases with intact ostium primum and 1 case with intact ostium primum and ventricular septum. There were 5 cases without surgical indications, and 1 case was kept under observation due to small VSD. One patient with complex malformation only underwent pulmonary artery banding operation without treating intracardiac malformation. The other 4 cases of perimembrane VSD and 1 case of partial AVSD were misdiagnosed as special type of AVSD by echocardiography. All patients had mild to severe left atrioventricular regurgitation before surgery, and most patients remained left atrioventricular regurgitation of varying degrees after left atrioventricular valve formation. Characteristic sonographical findings included: ①The ostium primum was continuous and there was no ostium primum defect. ②The attachment points of the left and right atrioventricular valves were at the same level. ③The left atvioventricular valve was a trileaflet left atrioventricular valve and attached to the crest of the ventricular septum, forming the so-called "anterior mitral valve leaflet cleft". ④The two groups of papillary muscles of the left ventricle changed the normal anterolateral and posterolateral alignment, but showed a anteriorly and posteriorly relationship (counterclockwise transposition). ⑤In the presence of VSD, an inlet ventricular septal defect would be present. ⑥Color Doppler showed varying degrees of regurgitation signals from the left atrioventricular valve during systolic period. ⑦Other complex deformities may be combined with special type of AVSD.Conclusions:Echocardiography can make a definite diagnosis for special types of AVSD. The prognosis of this malformation is closely related to the left atrioventricular valve, and the shaping effect depends on the development of left atrioventricular valve and regurgitation.

Hypermethylation of NRG1 gene correlates with the presence of heart defects in Down’s syndrome

Congenital heart defects can decrease the quality of life and life expectancy in affected individuals, and constitute a major burden for the health care systems. Endocardial cushion defects are among the most prevalent heart malformations in the general population, and are extremely frequent (approximately a 100-fold higher prevalence) in children with Down syndrome. Several genes have been proposed to be involved in the pathogenesis of these malformations, but no common pathogenic DNA variants have been identified so far. Here, we focussed on constitutive, epigenetic alterations of function of selected genes, potentially important for endocardial cushion development. We used two types of microarrays, dedicated for assessment of gene promoter methylation and whole genome expression. First, we compared the gene promoter methylation profiles between two groups of Down syndrome patients, with and without heart defects of endocardial cushion-type. Then, to determine the functional role of the detected methylation alterations, we assessed the expression of the genes of interest. We detected significant hypermethylation of the NRG1 gene promoter region in children with heart defects. NRG1 is a key factor in maturation of endocardial cushions. Supplementary gene expression assessment revealed significantly decreased activity of the ERBB3, SHC3 and SHC4 genes in children with heart defects. The above three genes are closely related to the NRG1 gene and are crucial elements of the NRG/ErbB pathway. The results of this pilot study show that hypermethylation of the NRG1 gene promoter can reflect the functional genome alteration contributing to development of congenital heart defects of endocardial cushion-type

Tratamiento quirúrgico de la endocarditis infecciosa en un hospital general: Indicadores y morbi-mortalidad / Surgical treatment of infectious endocarditis in a general hospital: Indications for and morbi-mortality

Objetivos: Describir las indicaciones de tratamiento quirúrgico de la endocarditis infecciosa, el momento de indicación quirúrgica, tipo de cirugía y morbi-mortalidad post-operatoria. Material y métodos: Estudio descriptivo y retrospectivo. Se incluyeron pacientes con diagnóstico de Endocarditis Infecciosa (EI) definido según los Criterios de Duke, que no respondieron al tratamiento médico y que además contaban con indicación de tratamiento quirúrgico de acuerdo a la evaluación de los especialistas del Servicio de Cirugía Cardiovascular del Hospital Nacional Cayetano Heredia, desde enero del 2000 a diciembre de 2013. Se revisaron las historias clínicas y se determinaron las características clínicas de la población, indicaciones quirúrgicas, momento y tipo de cirugía, mortalidad y complicaciones. Resultados: De 27 pacientes con diagnóstico de EI e indicación de tratamiento quirúrgico, el 74,07% tuvo indicación de cirugía por riesgo de embolismo, el 70,37% por insuficiencia cardiaca refractaria a tratamiento médico y el 51,85% por infección no controlada. El 77,78% tuvo indicación de cirugía de urgencia y el 22,22% indicación de cirugía de emergencia. El 25,93% de los pacientes fue intervenido quirúrgicamente. A 6 pacientes se les realizó cambio valvular. Un paciente falleció luego de la cirugía y otros 3 presentaron complicaciones post-quirúrgicas...

Objectives: To describe the indications for surgical management of infective endocarditis (IE), timing of surgical intervention, type of surgery and post-operative morbi-mortality. Methods: Retrospective study that enrolled patients with IE following Duke´s criteria that did not respond to medical treatment, with indications for surgical management based on an evaluation by cardiothoracic specialists of Hospital Nacional Cayetano Heredia from January 2008 to December 2013. Clinical charts were reviewed in search for indications for surgical management of IE, timing of surgical intervention, type of surgery and post-operative morbi-mortality. Results: A total of 27 patients were diagnosed with IE during the study period; 40.7% had indications for surgical intervention due to risk of embolization; 70.37% for heart failure not responding to medical treatment and 51.85% for uncontrolled infection; 77.78% had indication for urgent intervention and 22.2% of emergency intervention. A total of 25.93% Objectives: To describe the indications for surgical management of infective endocarditis (IE), timing of surgical intervention, type of surgery and post-operative morbi-mortality. Methods: Retrospective study that enrolled patients with IE following Duke´s criteria that did not respond to medical treatment, with indications for surgical management based on an evaluation by cardiothoracic specialists of Hospital Nacional Cayetano Heredia from January 2008 to December 2013. Clinical charts were reviewed in search for indications for surgical management of IE, timing of surgical intervention, type of surgery and post-operative morbi-mortality...

A Case of Annular Pancreas and Endocardial Cushion in the Abscence of Down Syndrome

Annular pancreas is a rarely found gastrointestinal tract malformation, and is frequently associated with Down syndrome. Endocardial cushion defect is a type of congenital heart disease, commonly also related to Down syndrome. However, a combination of endocardial cushion defect with annular pancreas has not been reported previously. We recently experienced such a case in 2 month old boy. Moreover Down syndrome was excluded through physical examination and a chromosomal study. We think it difficult to obtain a complete explanation for this condition through the currently known pathogenesis of annular pancreas and endocardial cushion defect.

Pathology of Cardiac Anomalies and Systemic Edema in the Murine Fetus with Trisomy 16

BACKGROUND: Trisomy 16 in mice is considered to be an animal model for Down's syndrome in human. We studied the morphologic characteristics of the heart and the edema, and their significance to the teratogenesis in this animal model. METHODS: A total of 30 dams were sacrificed to bear 125 (61.9%) normal fetuses 35 (17.3%) abnormal fetuses and 42 (20.8%) resorptions. Cytogenetic study and morphological examination were performed using microdissection agar-mount sectioning histologic examination and scanning electron microscope. RESULTS: The crown-rump length was significantly shorter in abnormal (trisomic fetuses) than the normal (eusomic) fetuses. Trisomic fetuses showed massive edema at the back from the vertex to the lumbar area. Four-chamber view section of the agar-mount and histologic section showed a common atrioventricular valve bridging the left and the right atrioventricular junction. Scanning electron microscopic examination on atrioventricular valves showed three types of atrioventricular valves:five cases with common atrioventricular orifice, three cases with partitioned atrioventricular orifice and two cases with atresia of the right atrioventricular orifice. CONCLUSION: This study confirmed the presence of massive edema and cardiac anomalies in the mouse with trisomy 16. But there was morphologic diversity of cardiac anomaly in this model.

Clinical Studies of Tetralogy of Fallot Associated with Complete Atrioventricular Septal Defect

PURPOSE: The association of the tetralogy of Fallot(TOF) with the complete form of atrioventricular septal defect(AVSD) is rare cardiac malformation.The predominant clinical findings in both groups of cases were those associated with tetralogy of Fallot, but certain features need to be emphasized, however. METHODS: Forteen(2%) out of 659 patients with tetralogy of Fallot seen at the department of pediatrics, Seoul National University Hospital from January 1986 to June 1994, were associated with the complete form of AVSD. We reviewed clinical records, echocardiographic findings, angiographic findings and operative findings of patients. Our diagnostic criteria for TOF with complete AVSD are as follows. 1) Anterosuperior displacement of infundibular septum and RVOT obstruction. 2) Large (nonrestrictive) VSD and an overriding aorta. 3) Primum ASD with common AV valve.Goose-neck deformity of LVOT. RESULTS: 1) Only 14 cases(2%) of the 659 TOF patients were associated with complete AVSD. 2) The male to female ratio was 1:2.5. 3) The predominant features were those associated with TOF, but 9 patients(64.4%) had Down's syndrome. 4) The electrocardiogram showed left axis deviation except 2 patients. 5) Most common type among 14 patients with complete AVSD defect was Rastelli type C(78.5%). 6) Associated cardiovascular anomaly included PDA, ASD of secundum type, right aortic arch, left superior vena cava. 7) Among 12 patients who underwent operations, 9 patients are still alive and followed up. CONCLUSIONS: TOF associated with complete AV septal defect was a rare disease. There was a clinical difference between TOF and AVSD combined groups of case. The presence of Down's syndrome or left-axis deviation with TOF increases the likelihood of associated complete AVSD.Careful preoperative evaluation of these patient is essential to their management and successful operative treatment.