Renuka Jain

Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle

Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve.

Role of Two-Dimensional Speckle-Tracking Echocardiography Strain in the Assessment of Right Ventricular Systolic Function and Comparison with Conventional Parameters

&NA; Despite the already well‐known role the right side of the heart plays in many diseases, right ventricular (RV) function has only recently been carefully considered. Echocardiography is the first‐line diagnostic technique for the assessment of the right ventricle and right atrium, whereas cardiac magnetic resonance is considered the gold standard but is limited by cost and availability. According to the current guidelines, systolic RV function should be assessed by several conventional measurements, but the efficacy of these parameters as diagnostic and prognostic tools has been questioned by many authors. The development in recent years of myocardial deformation imaging techniques and their application to the right heart chambers has allowed deeper evaluation of the importance of RV function in the pathophysiology of a large number of cardiovascular conditions, but the real value of this new tool has not been completely clarified. The aim of this review is to provide a wide and careful analysis of findings available in the literature about the assessment of RV systolic function by strain measurements, comparing them with conventional parameters and evaluating their role in several clinical settings. HighlightsRV function echocardiographic assessment plays a key role in many clinical settings.Normal parameters for evaluation are quite accurate for assessment of RV function.RV 2D strain seems to provide more information for the assessment of RV function.RV 2D strain is limited by several issues that should be kept in mind.Three‐dimensional RVEF and strain are promising tools for the assessment of RV dysfunction.

Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).

INTRODUCTIONnDanon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability.nnnMETHODSnWe examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes.nnnRESULTSnAll patients presented phenotypically with hypertrophic cardiomyopathy and later developed systolic dysfunction. The mean age at diagnosis was 19years (11-31years). All patients had diastolic dysfunction (mean e of 5cm/s [3.5-6cm/s], mean E/e of 17 [15-21]). Three patients required cardiac transplantation (ages 15, 27, and 42). Of the two deaths in this group, both were in women.nnnCONCLUSIONnWe highlight the aggressive cardiac phenotype of Danon disease in our clinical experience with rapid progression to end-stage cardiomyopathy; this progression occurred in both men and women. A timely diagnosis and an early referral for cardiac transplantation is crucial for improved outcomes.

Role of Echocardiography in the Evaluation of Left Ventricular Assist Devices: the Importance of Emerging Technologies

The role of left ventricular assist devices (LVAD) in patients with end-stage heart failure is well known, both as a temporary treatment before transplantation and as destination therapy, in a scenario of a relative shortage of donors to satisfy the increasing requests for transplantation. The increased population of LVAD patients needs careful imaging assessment before, during, and after LVAD implantation; echocardiography is the best tool for their evaluation and is considered the diagnostic technique of choice for the assessment before, during, and after device implantation. Although the conventional echocardiographic assessment is quite effective in evaluating the main critical issues, the role of new technologies like three-dimensional echocardiography and myocardial deformation measurements is still not properly clarified. In this review, we aim to provide an overview of the main elements that should be considered in the assessment of these patients, underlining the role that could be played by new techniques to improve the diagnostic and prognostic effectiveness of echocardiography in this setting.

Synovial sarcoma invades the left atrium: visualization with three-dimensional trans-oesophageal echocardiography

A 36-year-old male presented with right hemiplegia and aphasia. Computed tomography imaging showed showered infarcts with multi-organ involvement including left carotid filling defect and left upper lung mass encasing the left upper pulmonary vein ( Panels A and B ). Trans-thoracic echocardiogram revealed a left atrial mass oscillating into the left ventricle. Two-dimensional trans-oesophageal echocardiogram (TEE) …

Marked respiratory-related fluctuations in left ventricular outflow tract gradients in hypertrophic obstructive cardiomyopathy: an observational study

AimsnLeft ventricular outflow (LVOT) obstruction in patients with hypertrophic cardiomyopathy (HCM) is dynamic and sensitive to many variables that affect left ventricular preload, afterload, and contractility. The haemodynamic effect of normal respiration on LVOT obstruction has not been described.nnnMethods and resultsnWe examined 20 patients with HCM who were noted to have phasic respiratory variation of LVOT obstruction on initial transthoracic 2D echocardiogram and Doppler examination. LVOT gradients were re-examined with simultaneous recording of a respirometer. LVOT gradients varied widely during the respiratory cycle; peak gradients were uniformly lowest during inspiration (50.8u2009mmHgu2009+u200925.6) and highest during expiration (90.1u2009mmHgu2009+u200941.8). On average, there was 82.4%u2009±u200939.1 (Pu2009≤u20090.0001) incremental change from inspiration to expiration, in the severity of LVOT obstruction. In 11 patients with mitral annulus inflow, LV inflow (preload) was decreased during inspiration. In 16 patients with isovolumic relaxation time and ejection time measurements, decreased left atrial filling pressure was noted during inspiration, consistent with decreased LVOT obstruction. When compared with a control group of 20 HCM patients who did not have respiratory variation, the study group patients were more overweight (mean body mass index cases 35.1u2009±u20097.3 vs. control group 29.1u2009±u20095.1, Pu2009=u20090.0045) and more likely to have sleep-disordered breathing (nu2009=u200915 study group, nu2009=u20095 control group).nnnConclusionsnCounterintuitive respiratory-related fluctuations in LVOT gradients were observed in this case series of 20 HCM patients. These findings challenge traditional haemodynamic teaching and demonstrate the contribution of LV transmural pressure to LVOT obstruction in certain HCM patients.

Preoperative Transthoracic Echocardiography Shows Resolution of Presumed Papillary Fibroelastoma: Patient Goes Home Instead of to Operating Room.

We describe a case demonstrating the utility of limited transthoracic echocardiography (TTE) in patients presenting for cardiac surgery. A 65-year-old man presented for routine follow-up 2 years after successful mitral valve repair for severe mitral regurgitation due to posterior flail leaflet. He had no cardiac symptoms and a normal physical examination. A routine TTE (Fig 1) demonstrated a mobile echodensity attached to the left ventricular outflow tract (LVOT). Transesopheageal echocardiography was performed emergently, and a 1.1x 1.2-cm echodensity was noted with a stalk attached to the LVOT on multiple 2-dimensional (2D) and 3-dimensional (3D) views (Figs 2 and 3). This echodensity was not present in prior studies performed before and after mitral valve repair. The patient was scheduled for urgent surgical resection of a presumed cardiac papillary fibroelastoma (PFE) within days of transesopheageal echocardiography. On the morning of the surgery, prior to invasive monitoring, the cardiac anesthesiologist assigned to the case performed a limited 2D TTE in the preoperative unit to assess for interval changes in the echodensity, valvular function, and ventricular function. The LVOT echodensity was no longer visualized (Fig 4). The patient’s cardiac surgeon reviewed the findings and canceled the case.

Hypertrophic cardiomyopathy with aortic dilation: a novel observation

AimsnOur goal was to identify the prevalence of aortic dilation in patients with hypertrophic cardiomyopathy (HCM), the most prevalent (0.2%) heritable, genetic cardiovascular disease. Aortic dilation also represents a spectrum of familial inheritance. However, data regarding the prevalence of aortic dilation in HCM patients is lacking.nnnMethods and resultsnThis is an observational retrospective study of all patients referred to our HCM centre. Aortic dilation was defined based on recent American Society of Echocardiography and European Association of Cardiovascular Imaging published guidelines. Of the 201 HCM patients seen between Jan. 1, 2011 and March 31, 2014, 18 (9.0%) met the definition of aortic dilation. Mean age was 56.3u2009±u20099.3 years, 77.8% were male, mean ascending aorta diameter was 4.0u2009±u20090.4u2009cm in males and 3.8u2009±u20090.2u2009cm in females, mean sinuses of Valsalva diameter was 4.2u2009±u20090.2u2009cm in males and 3.8u2009±u20090.4u2009cm in females, and 13 (72.2%) had left ventricular outflow tract obstruction. HCM patients with dilated aorta were more likely males, less likely hypertensive and had larger left ventricle diameter and more aortic valve regurgitation; remaining characteristics were similar.nnnConclusionnWe report a novel observation with 9.0% prevalance of dilated aorta in HCM patients. Further studies are needed to help define the genetic and pathophysiologic basis as well as the clinical implications of this association in a larger group of HCM patients.

Aortic fenestration mimicking aortic perforation.

A 52-year-old woman with a history of hypertension and polysubstance abuse (heroin and cocaine) presented with a 3-week history of progressively worsening dyspnoea on exertion and abdominal pain. It was noted that she had congestive heart failure, …

Transthoracic echocardiography is adequate for intraprocedural guidance of transcatheter aortic valve implantation

Background While transcatheter aortic valve implantation (TAVI) has traditionally been supported intraprocedurally by transoesophageal echocardiography (TOE), transthoracic echocardiography (TTE) is increasingly being used. We evaluated echocardiographic imaging characteristics and clinical outcomes in patients who underwent TTE during TAVI (TTE-TAVI). Methods and results A select team of dedicated sonographers and interventional echocardiographers performed TTE-TAVI in 278 patients, all of whom underwent TAVI through transfemoral access. We implanted the Medtronic EVOLUT R valve in 258 patients (92.8%). TTE images were acquired immediately pre-procedure by a dedicated sonographer in the cardiac catheterization laboratory with the patient in the supine position. TTE was then performed post deployment of TAVI. In the procedure, TTE image quality was fair or better in 249 (89.6%) cases. Color-flow Doppler was adequate or better in 275 (98.9%) cases. In 2 cases, paravalvular regurgitation (PVL) could not be assessed confidently by echocardiography due to poor image quality; in those cases, PVL was assessed by fluoroscopy, aortic root injection and invasive hemodynamics. Both TTE and invasive hemodynamics were used in the assessment of need for post-deployment stent ballooning (nu2009=u200923, 8.3%). TTE adequately recognized new pericardial effusion in 3 cases. No case required TOE conversion for image quality. There was only 1 case of intraprocedural TTE failing to recognize moderate PVL, without clinical implication. In 99% of patients, TTE-TAVI adequately assessed PVL compared with 24-h and 1-month follow-up TTE. Conclusions With the current generation of TAVI, TTE-TAVI is adequate intraprocedurally when performed by specialized sonographers and dedicated cardiologists in a highly experienced TAVI center.