综述三维斑点追踪技术在糖尿病心肌病心功能评价中的应用

糖尿病心肌病(Diabetic Cardiomyopathy,DC)的进展会导致左心室功能减低,因此,早期正确评估左心室功能对糖尿病心肌病患者的治疗和预后有着重要的意义。由于左心室解剖结构的复杂性,常规超声技术通常很难准确的评估左心室功能的变化,三维斑点追踪技术(three-dimensional speckle tracking imaging,3D-STI)是在实时3D超声和斑点追踪技术(STI)基础上发展起来的一项新技术,其对心脏功能的评估不受整个心脏运动方向和运动幅度的限制,能够直观的对心肌各个方向的运动进行追踪。本文首先论述3D-STI 在左心室功能评价中的可行性,再对其在DC左心室功能评价中的研究展开综述。     

Loss of function,missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes.     

Giant right atrium and subvalvular pulmonary stenosis: A case report of an interesting combination

A 20‐year‐old Congolese woman presented with presyncope, dyspnea, and anasarca. Past medical history was unremarkable. Echocardiography revealed a rare combination of giant right atrium (RA), a dilated and hypertrophied right ventricle, subvalvular pulmonary stenosis (subPS), severe tricuspid regurgitation (TR), pericardial effusion and what appeared to be a spontaneously closed ventricular septal defect (VSD). Cardiac Magnetic Resonance and Cardiac Computed Tomography confirmed the findings excluding the presence of intra‐cardiac and extra‐cardiac shunt and other associated congenital anomalies. The patient underwent subPS resection, right atrioplasty, and tricuspid annuloplasty. Multimodality approach facilitated the detection of the abnormalities and provided clarity when determining the optimal surgical strategy.     

Recipient hypertonic saline infusion prevents cardiac allograft dysfunction

Objective

Hypertonic saline (HTS) has potent immune and vascular effects. We assessed recipient pretreatment with HTS on allograft function in a porcine model of heart transplantation and hypothesized that HTS infusion would limit endothelial and left ventricular (LV) dysfunction following transplantation.