Echocardiographic Morphological Classification of Aortic Stenosis in Sulaimani Pediatric Teaching Hospital/Kurdistan/Iraq

Aortic stenosis occurs when the heart's aortic valve narrows. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta and onward to the rest of the body. The aim of the study was to performed the echocardiographic study of the major morphological types of aortic valve stenosis in the pediatric cardiac unit in suliamani. A retrospective study including 127 patients aged from birth to 14 years done in the cardiac unit / Sulaimani pediatric teaching hospital. The data were collected from the recorded files of the patients examined in that unit during the period from 2006 to 2016.Collected data included name, age, sex, residency, consanguinity, clinical presentation, associated syndromes and Echo findings.  Statistical analysis was performed by SPSS 21. Chi-square test was used to find out the correlation between categorical variables, P value of (≤ 0.05) was regarded significant. Overall, 80 were males (63%) and 47 were females (37%). Forty patients (31.5%) were below one year. The valvular type found in 96 cases (75.6%). subvalvular and supravalvular types found in 22 cases (17.3%), 9 cases (7.1%) respectively. We found 91 cases (94.8%) of bicuspid, 3 cases (3.1) of tricuspid and 2 cases (2.1%) of the unicuspid valve. In subvalvular type we found 14 cases (63.6%) of sub aortic ridge, 5 cases (22.7%) of tunnel type and 3 cases (13.6%) of systolic anterior motion. In supravalvular type we had 7 cases (77.8%) of hourglass and 2 cases (22.2%) of the long segment. Aortic regurgitation was the most common associated cardiac defect. There was a significant association between the types of aortic stenosis and the mild grade of AR; P value <0.05. In conclusion the valvular aortic stenosis was the most common type of aortic stenosis in this study. Bicuspid aortic valve found to be the most common congenital anomaly associated with aortic stenosis. Most of the patients with aortic stenosis were discovered to have an accidental murmur

Role of Pulse Oximetry Screening for Detection of Life Threatening Congenital Heart Detects in Newborn

Most ofnewborns with Congenital Heart Defects (CHDs) can be detected by using echocardiography. However, if such defects are not diagnosed in earlier time, therefore a severe hypoxemia, shock, acidosis and death are considered of some potential sequelae. A prospective study from January 2012 to the end of 2013 was performed and 2181 neonates were enrolled in the study. The pulse oximetry screening (POS) for both hands and one foot were obtained within the first 3-6 hours of life, when post ductal saturation was below 90%, it was considered as a positive screening, while when the saturation is between 90-95% and the difference between pre-and post-ductal saturation was more than 3%, the baby was provisionally considered to be screening as a positive then echocardiography is planned. Among 100 positive POS babies, 45 (45%) of them were detected with CHS, 12 (12%) was with a major CHS and 33 (33%) was with a minor CHS. Out of 12 patients with a major CHD 6 of them (50%) were asymptomatic at the time of POS.POS result was a true negative in 2078 patients, a true positive in 45 patients, false negative in 3 patients, and false positive in 55 and 28/55 of the false positive rate with POS had other pathology. The false positive rate with pulse oximetry screening is (55/2081) = 0.26%. Sensitivity, specificity, positive and negative predictive value for POS in detection of major CHD were 80%, 97.29%, 17.9% and 99.80%, respectively. Pulse oximetry screening is significantly improving the detection of life threatening congenital heart disease at an early stage

Genetic Insights from Consanguineous Cardiomyopathy Families

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 linked with a dilated phenotype, in NRAP linked with a mixed phenotype of dilated/hypertrophic, and in KLHL24 linked with a mixed phenotype of dilated/hypertrophic and non-compaction features. Co-segregation analysis in family members confirmed autosomal recessive inheritance presenting in early childhood/early adulthood. Our findings add to the mutational spectrum of recessive cardiomyopathies, supporting inclusion of KLHL24, NRAP and RBCK1 as disease-causing genes. We also provide evidence for novel (recessive) modes of inheritance of a well-established gene TNNI3K and expand our knowledge of the clinical heterogeneity of cardiomyopathies. A greater understanding of the genetic causes of recessive cardiomyopathies has major implications for diagnosis and screening, particularly in underrepresented populations, such as those of the Middle East