Hypertrophic cardiomyopathy: prevalence, hypertrophy patterns, and their clinical and ECG findings in a hospital at Qatar

Hypertrophic cardiomyopathy [HCM] is a genetic disease associated with risk of morbidity and sudden cardiac death. The prevalence, hypertrophy patterns, mode of presentations, and different ECG findings vary in different regions of the world. To date, no data is present regarding these variables in Qatar. A retrospective, cross sectional, descriptive analysis of all patients referred for echocardiography study at Hamad General Hospital, Qatar. The study period was from January 2008 till December 2010. Aims: To study 1] the prevalence of HCM, 2] the different patterns of hypertrophy, and 3] the clinical and ECG presentations in this population. Out of the 29,286 cases evaluated, 38 patients were found to have HCM [0.13%]. Their clinical, ECG, and echocardiography findings were analyzed. Mean age was 47 y, 35 males [92%] and 3 females [8%]. Four patterns of hypertrophy were described; 17 [44.7%] had septal hypertrophy alone, 6 [15.8%] had septal and other segments hypertrophy but sparing the apex, 10 [26.3%] had apical segments along with any other segment hypertrophy, and 5 [13.2%] had apical hypertrophy alone. No obstruction was found in 19 [50%], left ventricular outflow [LVO] tract obstruction was found in 13 [34%], and mid cavity obstruction [MCO] in 6 [16%]. Twenty one [55.3%] patients were referred because of chest pain, 15 [39.5%] with palpitations, 15 [39.5%] with shortness of breath, and 5 [13.2%] with syncope. Nine patients [23.7%] were asymptomatic and were referred because of cardiac murmur during routine examination. ECG evidence of LV hypertrophy was found in 29 [76.3%]. The prevalence of HCM in our population group is 0.13% with a male predominance [12:1]. There was a diversity of clinical presentation, ECG abnormalities and patterns of LV hypertrophy among HCM patients

Femoral hypoplasia-unusual facies syndrome: femoral facial syndrome [FFS]: a recessive severe skeletal form

The femoral hypoplasia-unusual facies syndrome [FFS] is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. Autosomal dominant inheritance was described in few cases. We report a four-year old male with complete absence of both femora, not associated with other congenital anomalies except bilateral undescended testes

Ultrafiltration during cardiopulmonary bypass for open heart surgery in infants and children

Ultrafiltration during cardiopulmonary bypass for open heart surgery was done in a group of infants and children in Cairo University Pediatric Hospital. The study group included 25 patients aged 20 days to 12 years with body weight ranging from 2.5 kg to 40 kg. The patients were classified into 3 groups: Group I, included 10 patients without ultrafiltration, group II, included 10 patients for whom ultrafiltration was done using the st and ard circuit and group III, included 5 patients with modified circuit for ultrafiltration. The effect of ultrafiltration on organ performance and on blood elements was assessed. The study found ultrafiltration during and after cardiopulmonary bypass caused marked decrease in the amount of water accumulation in the lung and heart resulting in better cardiopulmonary performance. Hemofiltration also prevented hemodilution resulting in better RBC platelet and coagulation factor concentration