Role of echocardiography in the diagnosis and treatment of patients with aortic stenosis

PURPOSE OF REVIEW: Echocardiographic assessment plays a major role in the evaluation of aortic stenosis (AS). Because of its proven accuracy, ease of applicability, and safety, it is replacing cardiac catheterization for the assessment of AS in many centers. RECENT FINDINGS: In this review, we discuss the basic principles of echocardiographic assessment of AS and clinically challenging scenarios including AS with low cardiac output state or other structural heart disease. Dobutamine stress echocardiography is a useful tool for assessing low cardiac output AS. The role of transesophageal echocardiography in the evaluation of AS is also reviewed. SUMMARY: Echocardiographic techniques provide critical information in the assessment of patients with known or suspected AS and guide decision-making regarding the appropriateness of valve replacement.     

Three-dimensional speckle-tracking echocardiography: methodological aspects and clinical potential

Speckle-tracking echocardiography (STE) is an advanced echocardiographic technique that allows a novel approach to the assessment of cardiac physiology through the study of myocardial mechanics. In its three-dimensional (3D) modality, it overcomes the drawbacks inherent to other echocardiographic techniques, namely two-dimensional echocardiography and tissue Doppler imaging. Several research studies and software improvements have led 3D-STE to become a promising tool for accurate evaluation of global and regional cardiac function. This article addresses the image acquisition, analytical methods, and parameters of myocardial mechanics that could be derived from 3D-STE. This systematic guidance may help to establish its usefulness in the global and regional evaluation of cardiac function, and to facilitate its clinical application.     

Lyme disease—another transfusion risk?

Lyme disease (or Lyme borreliosis) is caused by a spirochetal bacteria, Borrelia burgdorferi. Increased recognition of the disease and increased exposure to the vector (ticks) capable of spreading B. burgdorferi from animal hosts have resulted in a rise in the number of cases of Lyme borreliosis reported in the United States. There are three stages of the clinical course of Lyme borreliosis; however, not all those infected will have typical manifestations of each stage, such as the arthritis of the third stage. Routine blood cultures will rarely document bacteremia and serologic testing is not yet reliable. Early treatment can prevent later stages of Lyme borreliosis. There is evidence that transmission of B. burgdorferi by blood transfusion is possible, but, to date, there has been no documentation of transfusion- associated Lyme borreliosis. Thus, no new recommendations for screening donors to identify possible carriers of B. burgdorferi are suggested at this time.     

Soluble LH-HCG receptor and oestradiol as predictors of pregnancy and live birth in IVF

Research question

Circulating soluble LH-HCG receptor (sLHCGR) is a first-trimester marker for screening pregnancy pathologies and predicts premature or multiple births before fertility treatment. Oestradiol per oocyte at ovulation induction predicts IVF treatment outcomes. We asked whether sLHCGR levels are stable during fertility treatment and whether, alone or with oestradiol, they could improve prediction of fertility treatment outcomes.

Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung

Lung carcinoids occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). There are no well defined genetic abnormalities known to occur in these tumors. We studied 11 sporadic lung carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene were inactivated. All four tumors showed the presence of a MEN1 gene mutation and loss of the other allele. Observed mutations included a 1 bp insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide substitution affecting a donor splice site. Each mutation predicts truncation or potentially complete loss of menin. The remaining seven tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH. The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a complex germline MEN1 gene mutation. The data implicate the MEN1 gene in the pathogenesis of sporadic lung carcinoids, representing the first defined genetic alteration in these tumors.