The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population.

BACKGROUND: Identification of a subclinical cardiomyopathy in pediatric patients with Friedreich's ataxia (FA) has not been well-described. METHODS: We performed echocardiography (Echo), cardiac magnetic resonance imaging (cMRI), and neurologic assessment in a cross-sectional analysis of 48 genetically confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. Echo- and cMRI-determined left ventricular mass were indexed (LVMI) to height in grams/m2.7. LV remodeling was categorized as concentric remodeling (CR), concentric hypertrophy (CH), or eccentric hypertrophy based upon Echo- determined relative LV wall thickness. RESULTS: Echo LVMI exceeded age-based normal values in 85% of subjects, and cMRI-determined LVMI correlated with depression of both diastolic and systolic tissue Doppler velocity (E': r = -0.65, P < .001, S': r = -0.46, P < .001) as well as increased early diastolic Doppler flow velocity/tissue velocity ratio (r= 0.55, P < .001), a marker of elevated LV filling pressure. Similar associations were found with echo-determined LV mass. Evidence of depressed LV relaxation and increased LV stiffness were observed in 88% and 71%, of subjects, respectively, despite a normal LV ejection fraction in almost all cases (mean = 60% + 7%). CR and CH were present in 40% and 44% of the study group, respectively, although significant depressions of E' and S' were observed only in subjects with CH (P < .005). CONCLUSIONS: A subclinical hypertrophic cardiomyopathy is common in pediatric FA patients and CH is associated with both diastolic and systolic dysfunction.

A Summary of the American Society of Echocardiography Foundation Value-Based Healthcare: Summit 2014: The Role of Cardiovascular Ultrasound in the New Paradigm.

Value-Based Healthcare: Summit 2014 clearly achieved the three goals set forth at the beginning of this document. First, the live event informed and educated attendees through a discussion of the evolving value-based healthcare environment, including a collaborative effort to define the important role of cardiovascular ultrasound in that environment. Second, publication of these Summit proceedings in the Journal of the American Society of Echocardiography will inform a wider audience of the important insights gathered. Third, moving forward, the ASE will continue to build a ''living resource'' on its website, http://www.asecho.org, for clinicians, researchers, and administrators to use in advocating for the value of cardiovascular ultrasound in the new value-based healthcare environment. The ASE looks forward to incorporating many of the Summit recommendations as it works with its members, legislators, payers, hospital administrators, and researchers to demonstrate and increase the value of cardiovascular ultrasound. All Summit attendees shared in the infectious enthusiasm generated by this proactive approach to ensuring cardiovascular ultrasound's place as ''The Value Choice'' in cardiac imaging.

Device closure of paravalvular defects following transcatheter aortic valve replacement with the Edwards Sapien valve.

Paravalvular aortic insufficiency (AI) is observed in the majority of patients undergoing transcatheter aortic valve replacement (TAVR). While paravalvular AI is most commonly modest following TAVR, moderate or severe AI was seen in 10.5% and 6.8% of the PARTNER inoperable and high-risk cohorts at 1 year and has been reportedly associated with dyspnea and diminished survival. We report two cases of transcatheter heart valve (THV) associated paravalvular defects closed using catheter delivered devices. Both patients derived hemodynamic and symptomatic improvement from device closure. Additional research is warranted to define the adverse consequences of THV associated AI, indications for treatment, and risks associated with device closure of these defects.

Percutaneous closure of a mitral perivalvular leak using three dimensional real time and color flow imaging.

The role of echocardiography, including three-dimensional (3D) echocardiography, during interventional procedures in the cardiac catheterization laboratory is continuing to expand as interventional cardiologists perform more catheter-based interventions. Echocardiography often complements angiographic imaging of cardiac structures and sometimes provides additional information not available by angiography and fluoroscopy. The closure of perivalvular leaks using catheter-based techniques is one of the areas in which 3D echocardiography can be helpful. This case report describes the use of 3D real-time and color flow imaging during the closure of a mitral perivalvular leak. Three-dimensional echocardiography was used to assess the leak prior to intervention and the success of the intervention at the completion of the case.

Assessment of the right ventricle by echocardiography: a primer for cardiac sonographers.

The assessment of right ventricular (RV) structure and function by echocardiography has been improved by advancements that include Doppler tissue imaging, strain imaging, and three-dimensional imaging. Doppler tissue imaging and strain imaging can be useful for the assessment of regional RV systolic and diastolic function. Three-dimensional imaging has been reported to determine RV volumes and ejection fraction, which have previously been cumbersome to measure with conventional two-dimensional echocardiography. This article addresses the role of conventional and newer methods of echocardiography to assist sonographers in understanding the technical considerations, limitations, and pitfalls of image acquisition and analysis of RV structure and function.

Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia.

Cardiac calsequestrin (Casq2) is thought to be the key sarcoplasmic reticulum (SR) Ca2+ storage protein essential for SR Ca2+ release in mammalian heart. Human CASQ2 mutations are associated with catecholaminergic ventricular tachycardia. However, homozygous mutation carriers presumably lacking functional Casq2 display surprisingly normal cardiac contractility. Here we show that Casq2-null mice are viable and display normal SR Ca2+ release and contractile function under basal conditions. The mice exhibited striking increases in SR volume and near absence of the Casq2-binding proteins triadin-1 and junctin; upregulation of other Ca2+ -binding proteins was not apparent. Exposure to catecholamines in Casq2-null myocytes caused increased diastolic SR Ca2+ leak, resulting in premature spontaneous SR Ca2+ releases and triggered beats. In vivo, Casq2-null mice phenocopied the human arrhythmias. Thus, while the unique molecular and anatomic adaptive response to Casq2 deletion maintains functional SR Ca2+ storage, lack of Casq2 also causes increased diastolic SR Ca2+ leak, rendering Casq2-null mice susceptible to catecholaminergic ventricular arrhythmias.