Dysmorphic features, consanguinity and cytogenetic pattern of congenital heart diseases: a pilot study from Mansoura locality, Egypt

Congenital heart diseases [CHD] constitute a common cause of birth defects with a multifactorial inheritance heart disease in Egyptian cases from Mansoura, Egypt. This work is a pilot prospective controlled study including randomly selected 69 cases affected with congenital heart disease recruited from the Pediatric Cardiology Department, Mansoura University, Egypt. These cases were compared to 500 normal children of matched age and sex taken from the same locality serving as a control group. Complete history taking, clinical examination for dysmorphic features as well as cardiac examination were carried out for all subjects. Furthermore, cases were evaluated by Echocardiography and cytogenetic studies. Egyptian children affected with CHD were significantly associated with positive family history of CHD, perinatal history of maternal diseases or drug intake during pregnancy and positive parental consanguinity [odds ratio =10.5, 7.6 and 3.1 respectively]. Significant associated dysmorphic features included ear anormalies, eye anomalies, cleft lip, polydactyly and cleft palate [odds ratio = 217.6, 176.6, 68.7 and 37.07 respectively]. Seven cases [10.1%] had chromosomal aberrations and were associated with dysmorphic features. Risk of CHD increased with positive family history and consanguinity. Cytogenetic studies added to dysmorphic features seem to have an important clue for early diagnosis of CHD

Prenatal diagnosis of congenital heart diseases in northern east of Egypt: evaluation of indication and yield of fetal echocardiography in tertiary care facility

Antenatal detection of congenital heart diseases [CHD] is crucial because obstetric and neonatal management is likely to be altered. Aim of this study was to evaluate indications of fetal echocardiography in Mansoura University teaching hospitals, and evaluate its yield and impact on obstetric and neonatal management. Inclusive of 152 fetal echocardiograms were performed in Mansoura pediatric cardiology unit for 120 high risk pregnant women over 33 months duration. Triplex ultrasound machine was used with 3.5 or 5 MHz transabdominal probes. Mean maternal age was 27.51 +/- 4.7 years [range 18-39 years], mean gestational age at referral was 26.8 +/- 5.2 weeks [range 18-39 weeks]. Most common indications for referral were family history of CHD [n=34], extracardiac anomalies [n=26], maternal diabetes [n=20]. Abnormal cardiac findings on antenatal sonographic scanning [n=4] were one of less common referral indications. CHDs were accurately predicted in 16 cases [13.3%], 3 cases had echogenic intracardiac foci [EIF] [2.5%]. Abnormal fetal Doppler velocimetries were detected in 4 cases [3.3%] with structurally normal heart indicating abnormal fetal status, and obstetric decision was altered accordingly. Association with extracardiac anomalies were present in 7cases [43.7%], abnormal karyotype was detected in one case [6.2%] with CHD. Fourteen cases [12.06%] had CHDs out of 116 cases with primary indication for fetal echocardiography and normal antenatal obstetric scan, 2 cases [50%] out of 4 with abnormal cardiac findings on antenatal scan had CHDs. Small muscular ventricular septal defect was detected postnatally in one case with EIF giving sensitivity of 94.4% and specificity of 100%. Four cases with complex CHDs were transferred to pediatric cardiac facility center for appropriate management. Elective termination of pregnancy was offered to 2 cases. Neonatal death occurred in 7 [37.5%] cases with CHD and in two cases [50%] with abnormal Doppler velocimetry. Fetal echocardiography is valuable tool in diagnosis of fetal CHDs in high risk pregnant women with high sensitivity and specificity. Abnormal cardiac findings during prenatal sono graphic scanning are more yielding for identifying CHDs. Fetal Doppler velocimetry is useful in evaluating fetal homodynamic status

Hepatopulmonary syndrome in children with cirrhosis echocardiographic findings

Aim and Background: hepatopulmonary syndrome [HPS] is defined ccs triad of chronic liver disease, arterial hypoxemia, and intrapulmonary vascular dilatation. Presence of HPS in pediatric age group is an indication liver transplantation. We investigated the presence of HPS in 25 children [13 boys and 12 girls], age ranged from 2-15 years, with cirrhosis [8 Child-Pugh class A, 10 class B, and 7 class C]

Methods: they underwent detailed clinical evaluation, x-ray chest, ECG, and contrast enhanced transthoracic Doppler Echocardiographic examination using saline, results were compared to a control group of 8 healthy matched children

Results: children with cirrhosis had increased heart rate, decreased, mean arterial blood pressure, peak velocity of aortic blood flow, and increased cardiac output that were statistically significant [p<0.03, p<0.003, p< 0 .002, and p<0.03] when compared to controls. Contrast enhanced Echo was positive in 4 patience with arterial P alfa O2 < 70 mmHg [Child-Pugh grade CI: HPS +ve group. and was negative in all other patients whom arterial P alfa O2 < 70 mmHg [Child-Pugh class A=8, class B=10. class C=3]: HPS -ve group. When compared to controls, HPS +ve group have statistically significant increase in Echo-derived aortic diameter [p<0.004] and cardiac output [p< 0.006]. In addition, there was significant difference as regards age [p< 0.01], Echo-derived aortic diameter [p> 0.004] and cardiac output [p> 0.001] between HPS group and rest of patients

Conclusion: children with cirrhosis have hyper-dynamic circulatory status ;as evidenced by decreased mean arterial: blood pressure and increased cardiac output. Contrast enhanced Echocardiography is a sensitive as well as specific tool to diagnose HPS in children. HPS in children is associated with advancement in age and in Child-Pugh classification