Echocardiographic Assessment of Patients with Fabry Disease.

Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A. Increased left ventricular wall thickness has been the most commonly described cardiovascular manifestation of the disease. However, a variety of other structural and functional abnormalities have also been reported. Echocardiography is an effective noninvasive method of assessing the cardiac involvement of Fabry disease. A more precise and comprehensive characterization of Fabry cardiomyopathy using conventional and novel echocardiographic techniques may lead to earlier diagnosis, more accurate prognostication, and timely treatment. The aim of this review is to provide a comprehensive overview of the structural and functional abnormalities on echocardiography that have thus far been described in patients with Fabry disease and to highlight potential areas that would benefit from further research.

Doppler Parameters Derived from Transthoracic Echocardiography Accurately Detect Bioprosthetic Mitral Valve Dysfunction.

BACKGROUND: Detecting bioprosthetic mitral valve dysfunction on transthoracic echocardiography can be challenging because of acoustic shadowing of regurgitant jets and a wide normal range of transvalvular gradients. Several studies in mechanical mitral valves have demonstrated the utility of the transthoracically derived parameters E (peak early mitral inflow velocity), pressure half-time, and the ratio of mitral inflow velocity-time integral (VTIMV) to left ventricular outflow tract velocity-time integral (VTILVOT) in detecting significant prosthetic dysfunction. Uncertainty exists as to their applicability and appropriate cutoff levels in bioprosthetic valves. This study was designed to establish the accuracy and appropriate normal limits of routinely collected transthoracic Doppler parameters when used to assess bioprosthetic mitral valve function. METHODS: A total of 135 clinically stable patients with bioprosthetic mitral valves who had undergone both transthoracic and transesophageal echocardiography within a 6-month period were retrospectively identified from the past 11 years of the echocardiography database. Transthoracic findings were labeled as normal (n = 81), regurgitant (n = 44), or stenotic (n = 10) according to the patient's transesophageal echocardiographic findings. Univariate and multivariate analyses were performed to identify Doppler parameters that detected dysfunction; then receiver operating characteristic curves were created to establish appropriate normal cutoff levels. RESULTS: The VTIMV/VTILVOT ratio was the most accurate Doppler parameter at detecting valvular dysfunction, with a ratio of >2.5 providing sensitivity of 100% and specificity of 95%. E > 1.9 m/sec was slightly less accurate (93% sensitivity, 72% specificity), while a pressure half-time of >170 msec had both 100% specificity and sensitivity for detecting significant bioprosthetic mitral valve stenosis, (although it did not differentiate between regurgitant and normal). CONCLUSIONS: This study demonstrates that Doppler parameters derived from transthoracic echocardiography can accurately detect bioprosthetic mitral valve dysfunction. These parameters, particularly a VTIMV/VTILVOT ratio of >2.5, are a sensitive way of selecting patients to undergo more invasive examination with transesophageal echocardiography.

Best method for right atrial volume assessment by two-dimensional echocardiography: validation with magnetic resonance imaging.

AIM: Echocardiographic methods for estimating right atrial (RA) volume have not been standardized. Our aim was to evaluate two-dimensional (2D) echocardiographic methods of RA volume assessment, using RA volume by magnetic resonance imaging (MRI) as the reference. METHODS AND RESULTS: Right atrial volume was assessed in 51 patients (mean age 63 ± 14 years, 33 female) who underwent comprehensive 2D echocardiography and cardiac MRI for clinically indicated reasons. Echocardiographic RA volume methods included (1) biplane area length, using four-chamber view twice (biplane 4C-4C); (2) biplane area length, using four-chamber and subcostal views (biplane 4C-subcostal); and (3) single plane Simpson's method of disks (Simpson's). Echocardiographic RA volumes as well as linear RA major and minor dimensions were compared to RA volume by MRI using correlation and Bland-Altman methods, and evaluated for inter-observer reproducibility and accuracy in discriminating RA enlargement. All echocardiography volumetric methods performed well compared to MRI, with Pearson's correlation of 0.98 and concordance correlation ≥0.91 for each. For bias and limits of agreement, biplane 4C-4C (bias -4.81 mL/m(2) , limits of agreement ±9.8 mL/m(2) ) and Simpson's (bias -5.15 mL/m(2) , limits of agreement ±10.1 mL/m(2) ) outperformed biplane 4C-subcostal (bias -8.36 mL/m(2) , limits of agreement ±12.5 mL/m(2) ). Accuracy for discriminating RA enlargement was higher for all volumetric methods than for linear measurements. Inter-observer variability was satisfactory across all methods. CONCLUSIONS: Compared to MRI, biplane 4C-4C and single plane Simpson's are highly accurate and reproducible 2D echocardiography methods for estimating RA volume. Linear dimensions are inaccurate and should be abandoned.

Changes in Left Atrial Appendage Dimensions Following Volume Loading During Percutaneous Left Atrial Appendage Closure.

OBJECTIVES: This study sought to determine whether volume loading alters the left atrial appendage (LAA) dimensions in patients undergoing percutaneous LAA closure. BACKGROUND: Percutaneous LAA closure is increasingly performed in patients with atrial fibrillation and contraindications to anticoagulation, to lower their stroke and systemic embolism risk. The safety and efficacy of LAA closure relies on accurate device sizing, which necessitates accurate measurement of LAA dimensions. LAA size may change with volume status, and because patients are fasting for these procedures, intraprocedural measurements may not be representative of true LAA size. METHODS: Thirty-one consecutive patients undergoing percutaneous LAA closure who received volume loading during the procedure were included in this study. After an overnight fast and induction of general anesthesia, patients had their LAA dimensions (orifice and depth) measured by transesophageal echocardiography before and after 500 to 1,000 ml of intravenous normal saline, aiming for a left atrial pressure >12 mm Hg. RESULTS: Successful implantation of LAA closure device was achieved in all patients. The average orifice size of the LAA at baseline was 20.5 mm at 90°, and 22.5 mm at 135°. Following volume loading, the average orifice size of the LAA increased to 22.5 mm at 90°, and 23.5 mm at 135°. The average increase in orifice was 1.9 mm (p < 0.0001). The depth of the LAA also increased by an average of 2.5 mm after volume loading (p < 0.0001). CONCLUSIONS: Intraprocedural volume loading with saline increased the LAA orifice and depth dimensions during LAA closure. Operators should consider optimizing the left atrial pressure with volume loading before final device sizing.

Atrial remodeling in newly diagnosed drug-naive hypertensive subjects.

BACKGROUND: Systemic hypertension is a major risk factor for heart disease and stroke. Data regarding temporal relationship of left atrial (LA) remodeling to onset of hypertension are sparse. We aimed to quantitate LA structural and functional remodeling in newly diagnosed hypertensive patients. METHOD: We prospectively identified 380 patients with newly diagnosed systemic hypertension naive to drug therapy, and 380 age-matched control subjects without any history or evidence of hypertension. History or evidence of prior cardiovascular events, congenital or valvular heart disease, and renal dysfunction were exclusion criteria. Prevalence of LA enlargement, LA mechanical dysfunction expressed in total emptying fraction, left ventricular (LV) diastolic dysfunction, LV hypertrophy, and their interrelationships were assessed. RESULTS: Of the 380 newly diagnosed hypertensive patients, 285 (75%) had LA enlargement, 308 (81%) had LA mechanical dysfunction, and 19 (5%) had LVH. Diastolic dysfunction was present in 334 (88%) of the patients. Compared to the controls, the hypertensive group had larger maximal, minimal, and pre-A LA volumes (all P < 0.001). Total and active LA emptying fraction were significantly reduced (both P < 0.001). Total LA emptying fraction was strongly associated with systolic blood pressure [per 10 mmHg, HR 0.94 (0.89-0.98); P < 0.001], with stepwise decrease in LA emptying fraction of 6%, 10%, and 16% from the lowest (141-150 mmHg) to the top tertile of systolic blood pressure (>160 mmHg). CONCLUSION: In this drug-naive cohort with newly diagnosed hypertension, LA structural and functional remodeling, and LV diastolic dysfunction were common findings prior to initiation of drug treatment. LVH was uncommon. Impairment of LA mechanical function was evident even in the mildly hypertensive subgroup.