Left ventricular diastolic dysfunction in type I Gaucher disease: an echo Doppler study.

Type I Gaucher disease (GD1) is an autosomal recessive lysosomal storage disease characterized by multiorgan damage. Left ventricular (LV) involvement has been rarely reported. Accordingly, the aim of the study was to evaluate LV geometry and function in a series of patients with GD1. Eighteen patients with GD1, 18 age- and sex-matched normal controls, and 18 age- and sex-matched hypertensive patients (HTN) were compared by standard echo Doppler examination. LV mass index, relative wall thickness and ejection fraction, transmitral E/A ratio, E velocity deceleration time (DT), atrial filling fraction (AFF = time-velocity integral of A velocity/time-velocity integral of total diastole × 100), E/e' ratio, and left atrial volume index were determined. Nine GD1 patients also exhibited arterial hypertension. The intergroup difference of LV mass index and relative wall thickness was not significant. Transmitral E/A ratio was lower in HTN than in normal controls and GD1 (P < 0.05). GD1 exhibited longer DT than NC and HTN (P = 0.009). AFF was higher in GD1 and HTN compared to NC (P = 0.034). After adjustment for heart rate, GD1 was associated with longer DT (P < 0.001) and greater AFF (P = 0.036), while HTN was associated only with AFF (P = 0.013). No interaction was found between GD1 and HTN. In conclusion, GD1 is associated with subclinical LV diastolic dysfunction, which is independent of the coexistence of arterial hypertension. Subclinical LV impaired relaxation in the context of myocardial infiltrative damage could be the mechanism underlying these alterations.

Percutaneous treatment of patients with heart diseases: selection, guidance and follow-up. A review.

Aortic stenosis and mitral regurgitation, patent foramen ovale, interatrial septal defect, atrial fibrillation and perivalvular leak, are now amenable to percutaneous treatment. These percutaneous procedures require the use of Transthoracic (TTE), Transesophageal (TEE) and/or Intracardiac echocardiography (ICE). This paper provides an overview of the different percutaneous interventions, trying to provide a systematic and comprehensive approach for selection, guidance and follow-up of patients undergoing these procedures, illustrating the key role of 2D echocardiography.

Arrhythmogenic Cardiomyopathy and Skeletal Muscle Dystrophies: Shared Histopathological Features and Pathogenic Mechanisms.

Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiac disease characterized by fibrotic or fibrofatty myocardial replacement, associated with an increased risk of ventricular arrhythmias and sudden cardiac death. Originally described as a disease of the right ventricle, ACM is currently recognized as a biventricular entity, due to the increasing numbers of reports of predominant left ventricular or biventricular involvement. Research over the last 20 years has significantly advanced our knowledge of the etiology and pathogenesis of ACM. Several etiopathogenetic theories have been proposed; among them, the most attractive one is the dystrophic theory, based on the observation of similar histopathological features between ACM and skeletal muscle dystrophies (SMDs), such as progressive muscular degeneration, inflammation, and tissue replacement by fatty and fibrous tissue. This review will describe the pathophysiological and molecular similarities shared by ACM with SMDs.

Left Ventricular Mass in Hypertrophic Cardiomyopathy Assessed by 2D-Echocardiography: Validation with Magnetic Resonance Imaging.

We aim to validate echocardiographic left ventricular (LV) mass (echoLVM) in sixty-one patients with hypertrophic cardiomyopathy (HCM), using cardiac magnetic resonance measures (cmrLVM) as gold standard. cmrLVM was calculated using LV short-axis images, from base to apex, whereas echoLVM by LV epicardial minus LV endocardial volumes in 4 and 2 chamber views, using Simpson disk summation; trabeculae and papillary muscle were excluded in both cmrLVM and echoLVM. cmrLVM and echoLVM were not different by paired t test (145 ± 66 vs 147 ± 61; p = 0.240), and their correlation was good (r = 0.977; p < 0.0001). Intraclass correlation demonstrated reliability of echoLVM with cmrLVM (ρ = 0.987; Cls = 0.978-0.992; p < 0.0001). LV end-diastolic volume was higher by CMR than that by echo (137 ± 33 vs 85 ± 28 mL, p < 0.0001), resulting in a lower mass/volume ratio (1.1 ± 0.4 vs 1.8 ± 0.8, p < 0.0001). EchoLVM may be determined in patients with HCM. However, mass/volume ratio is higher by echocardiography than that by CMR.

Speckle-tracking analysis based on 2D echocardiography does not reliably measure left ventricular torsion.

PURPOSE: Worldwide left ventricular (LV) twist is measured by 2D speckle tracking acquiring apical short axis at a LV level where papillary muscles are no longer visible; however, we hypothesized that this methodological recommendation is not enough accurate to obtain a reliable measurement of apical rotation. METHODS: We measured twist and untwist rate in 30 healthy subjects by following the earlier method. By 3D echocardiography, we identified two LV apex levels: (i) 3D Apex, defined as the last apical slice at which LV cavity was visible; (ii) 2D Apex, defined as the level where diameters are equal to those of apical LV short axis used for twist analysis in the same subject. The ratio between the distance of 2D Apex and 3D Apex from LV base was calculated and expressed as percentage (2D Apex/3D Apex). RESULTS: 2D Apex/3D Apex was strongly related to the magnitude of twist and untwisting rate (r = 0·82, P<0·001; r = -0·46, P = 0·015, respectively). The only determinant of twist was 2D Apex/3D Apex (r(2)  = 0·68; r = 0·82; F ratio: 52·6, P<0·001); whereas untwisting rate was influenced by 2D Apex/3D Apex and age (r(2)  = 0·42; r = 0·65; F ratio: 7·7; P = 0·003 for 2D Apex/3D Apex; and P = 0·011 for age). CONCLUSIONS: Left ventricular apical level acquisition, even when recorded in a standard manner, determines variability of twist mechanics measurements. Thus, current anatomical markers used to identify LV apex for twist analysis are not reliable and need different standardization. 3D echocardiography may help in such standardization.