The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p = 0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in the three sarcomeric genes were novel (40/62, 65 %) and mostly private (47/62, 77 %). Single nucleotide substitution was the most frequently detected mutation type (51/62, 82 %). Over three quarters of these substitutions (21/27, 78 %) involved CpG dinucleotide sites and resulted from C > T or G > A transition in the three analyzed genes, highlighting the significance of CpG high mutability within the sarcomeric genes examined. This study could aid in global comparative studies in different ethnic populations and constitutes an important step in the evolution of the integrated clinical, translational, and basic science HCM program.

MAPSE is a rapid simple quantitative echocardiographic method that can asses contractile reserve in patients with ischemic cardiomyopathy before cardiac revascularization.

BackgroundPercutaneous coronary intervention (PCI) is a commonly used procedure for revascularization, however the impairment of regional myocardial function in patients with stable coronary artery disease (CAD) has not been well characterized, our study aimed to assess the improvement of left ventricular (LV) systolic function after elective PCI of the left anterior descending artery (LAD) using strain and strain rate imaging techniques.Materials and methodsThe study included 30 patients (aged 56.8 ± 6.6 years, 66.7% males) presented with stable CAD on optimal medical therapy, and recommended for elective PCI to LAD, all patients included in the study had a normal LV wall motions, and normal LV systolic function. Tissue Doppler imaging (TDI) was done before PCI, immediately, and three months post PCI. The peak systolic longitudinal strain (PSLS), and peak systolic strain rate (PSSR) were measured and averaged for the 6 LAD segments (the basal, mid, and apical segments of the anterior wall, the basal, mid anteroseptal, and the apicoseptal segments), 15 healthy control subjects were included as a control group.ResultsThe average PSLS and PSSR of the ischemic segments were significantly lower in patients compared to control in the ischemic segments, and significantly increased 3 months post PCI but not immediately post PCI. Using the ROC curve a cutoff value of −13.69% for PSLS can detect regional ischemia with a sensitivity 93.3% and a specificity of 80%.ConclusionsTDI derived strain and strain rate can detect resting regional myocardial dysfunction in presence of preserved LV systolic function, and can assess the improvement of regional myocardial function after successful elective PCI in patients with stable CAD.

Background: Acute myocardial ischemia decreases electrical conduction velocity through the ischemic myocardium, the aim of the study is to evaluate the value of the change in QRS complex duration as a marker of reperfusion in patients presenting with ST segment elevation myocardial infarction.