Edwards syndrome or trisomy 18 is one of the rare types of chromosomal abnormalities. Since this syndrome is easily diagnosed during pregnancy and cases of legal abortion is considered Therefore, early diagnosis is important during pregnancy. this article is a report of a case of this syndrome in a female neonate born in Gonabad. Due to her multiple congenital abnormalities including: overlapping fingers, rocker bottom feet, low set ears, recurrent apnea, sever intrauterine growth restriction, prominent occiput, cardiac murmur and microcephaly, we suspected to this syndrome in Echocardiography was reported ventricular septal defect, patent dactus arteriosus, whole cardiac chambers dilatation and aortic arch anomally And after application of karyotype this syndrome confirmed.

Background and Objective: Congenital anomalies are one of the major causes of neonatal mortality. Congenital heart disease (CHD) is the most common birth defect world wide, and recent studies about CHD have reported congenital heart disease approximately is about one percent of all live births. This study was done to determine the frequency of congenital heart disease using ECOCARDIOGRAPHY in patients with extra-cardiac anomalies in Gorgan peadiatric center in north of Iran. Methods: In this descriptive study, 55 girls, 84 boys a total of 139 patients were in the age range of birth to 12 years of age whom have referred to Taleghani Teaching and Medical Center in Gorgan during 2012-17. 139 cases of congenital heart disorders with echocardiographic report sheet in their medical record were evaluated. Information of patients including age, sex, ethnicity, type of extra-cardiac, anomalies, cardiac anomalies (simple, complex and ductal anomalies), cardiac murmur status, and clinical symptoms were extracted from their medical records. Results: From of total of echocardiography, 139 patients (88. 5%) were affected by congenital heart disease. The anomalies were included of 88 cases (56. 05%), 48 cases (31. 21%), 2 cases (1. 27%) simple, complex anomaly and ductal dependent anomaly respectively. The other disorders accompanied with congenital heart diseases were 17 cases (12. 2%) with cleft palate, 4 cases (2. 9%) with congenital diaphragmatic hernia, 8 cases (5. 8%) with closed anus, 52 cases (37. 4%) with Down syndrome, 4 cases (2. 9%) with Turner syndrome, 4 cases (2. 9%) with ileum atresia, 11 cases (7. 9%) with Esophageal atresia, 7 cases (5%) with Hirschsprung's disease, 6 cases (4. 3%) with urogenital anomalies and 26 cases (18. 7%) with other extra-cardiac abnormalities. Conclusion: Down syndrome and cleft palate are among the highest prevalant anomalies with congenital heart diseases.

Background and Objective: To evaluate cardiac status in patients with thalassemia major.Subjects and Methods: The investigation included thorough history taking, clinical examination, electrocardiography, chest radiography and echocardiography. One hundred and twenty young adults with thalassemia, following an adequate transfusional and chelation treatment regimen, without clinical signs of cardiopulmonary involvement.Results: 63 patients were female and 57 patients them were male. Mean age of the were 16.6 6 years (range 5-37 yr). Abnormal findings in ECG were found in 35.8% that the most common were nonspecific T wave and ST segment changes. Chest radiograph revealed increased cardiothoracic ratio in 30% of patients. Precardial effusion reported in 2.5%. No history of precarditis was reported in any patient. Mitral, tricuspid and pulmonary valve regurgitations were observed in 52%, 60% and 20% respectively. None of the patients had frank congestive heart failure. Ejection fraction and fractional shortening of the patients were 55.2% 5 and 31% 5 respectively. E/A <1 [early (E) and late (A) transmitral and transtricuspid peak flow velocities] were seen in 2.5% and 4.2% respectively. Pulmonary hypertension (PHT; defined as pulmonary artery pressure > 30 mmHg) was found in 8.3% of the patients, aged 19±8 yr. PHT correlated positively with irregular use of desferal (P<0.001).Age correlated negatively with ejection fraction (P<0.001), fractional shortening (P<0.05), mitral E/A (p<0.003) and tricuspid E/A (p < 0.014). In patients with abnormal ECG and CXR; ejection fraction reduced significantly (P<0.004). Left ventricular (LV) systolic dysfunction was encountered in 23.3% of patients, aged 20 5 years. Restrictive LV filling was suggestive in 32% of patients.Conclusion: Despite of regular usage of desferal and standard transfusion, there is also chance of cardiac complications in thalassemics. Echocardiographic examination appears a tool more reliable than clinical, electrocardiographic and/or chest X ray examination in assessment of young adult patient with thalassemia major. At present the most powerful predictive information includes a patient’s transfusion record, serial serum ferritin levels, and compliance to a chelation regimen.