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Alveolar capillary dysplasia associated with intestinal malrotation and annular pancreas due to a mutation in the FOXF1 gene: case report

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The fundoscopic examination of hypertensive patients, which is established hypertension-related target organ damage (TOD), tends to be underutilized in clinical practice. We sought to investigate the relationship between retinal alterations and left atrium (LA) volumes by means of real-time three-dimensional echocardiography (RT3DE). Our population consisted of 88 consecutive essential hypertensive patients (age 59.2 ± 1.2 years, 35 males). All subjects underwent a fundoscopy examination and were distributed into four groups according to the Keith-Wagener-Barker (KWB) classification. The four groups (KWB grades 0–3: including 26, 20, 26, and 16 patients, respectively) did not differ with regard to age, gender, or metabolic profile. There were no significant differences between groups with regard to parameters reflecting LV systolic function and diastolic dysfunction (DD) in two-dimensional echocardiography (2DE). Nevertheless, patients in the higher KWB category had higher values of LA volumes (LA maximal volume index, LA minimal volume index, preatrial contraction volume index, LA total stroke volume index, LA active stroke volume index, p < 0.001) regarding RT3DE. There is also a significant relationship between LA active stroke volume index (ASVI) and duration of hypertension (HT) (r: 0.68, p < 0.001). In the logistic regression analysis, ASVI was independent predictors of LV DD in patients with arterial hypertension (HT). Patients with arterial HT were found to have increased LA volumes and impaired diastolic functions. Assessment of the arterial HT patient by using RT3DE atrial volume analysis may facilitate early recognition of TOD, which is such a crucial determinant of cardiovascular mortality and morbidity.
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Cardiac magnetic resonance spectroscopy (MRS) is a noninvasive method to assess by-products of myocardial metabolism. Recent developments in shorter scan protocols and more powerful field strengths have created interest in utilizing this technology in studying and characterizing the metabolic derangements in heart failure patients. Our lack of understanding in heart failure could be greatly enhanced by identifying the metabolic changes and eventually modifying metabolic substrate to achieve improved cardiac mechanics with the aid of this technology. However, there are several impediments for the widespread applicability of this technology. This review discusses the principals of human cardiac MRS and literature pertaining to use of MRS in patients with cardiomyopathy.
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Advances in ultrasound, computer, and electronics technology have permitted three-dimensional echocardiography (3DE) to become a clinically viable imaging modality, with significant impact on patient diagnosis, management, and outcome. Thanks to the inception of a fully sampled matrix transducer for transthoracic and transesophageal probes, 3DE now offers much faster and easier data acquisition, immediate display of anatomy, and the possibility of online quantitative analysis of cardiac chambers and heart valves. The clinical use of transthoracic 3DE has been primarily focused, albeit not exclusively, on the assessment of cardiac chamber volumes and function. Transesophageal 3DE has been applied mostly for assessing heart valve anatomy and function. The advantages of using 3DE to measure cardiac chamber volumes derive from the lack of geometric assumptions about their shape and the avoidance of the apical view foreshortening, which are the main shortcomings of volume calculations from two-dimensional echocardiographic views. Moreover, 3DE offers a unique realistic en face display of heart valves, congenital defects, and surrounding structures allowing a better appreciation of the dynamic functional anatomy of cardiac abnormalities in vivo. Offline quantitation of 3DE data sets has made significant contributions to our mechanistic understanding of normal and diseased heart valves, as well as of their alterations induced by surgical or interventional procedures. As reparative cardiac surgery and transcatheter procedures become more and more popular for treating structural heart disease, transesophageal 3DE has expanded its role as the premier technique for procedure planning, intra-procedural guidance, as well as for checking device function and potential complications after the procedure.
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Left atrium enlargement is a pathophysiological response to volume and pressure overload associated with a wide range of cardiovascular disorders leading to left ventricle systolic and diastolic dysfunction. Physiological factors contribute to significant differences in left atrium size in normal individuals. Moreover, left atrium enlargement was shown to have a significant prognostic value for cardiovascular events such as heart failure, atrial fibrillation or stroke, and increased cardiovascular and all-cause mortality rates. Current imaging techniques such as two- and three dimensional echocardiography, cardiac magnetic resonance imaging and multi-detector computed tomography allow a detailed assessment of the left atrium. The current paper aims to offer an overview of two-dimensional echocardiography parameters which provide data concerning left atrium dimensions and phasic functions and may lead to a better understanding of left atrium physiology and pathology.
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Purpose: Left atrial (LA) volume has been shown to be a predictor of adverse cardiovascular outcomes. The aim of this study was to evaluate the relation between LA phasic volumes and hypertensive end-organ damage (EOD), by using real time three-dimensional echocardiography (RT3DE) in patients with essential hypertension (HT). Methods: The study included 95 essential hypertensive patients (60 ± 10 years, 37 males). The patients were divided into three according to the presence of EOD, namely microalbuminuria and retinal vascular changes detected by direct ophthalmoscopy. The first group had no EOD. The second group (EOD+ group) had either microalbuminuria or retinal vascular changes while the third group (EOD++ group) had both renal and retinal damage. Results: The three groups did not differ with regard to age, sex, or metabolic profile. In RT3DE measurements, there were significant differences in LA phasic volumes (LA maximal volume index, LA minimal volume index, LA pre-atrial contraction volume index, LA total stroke volume index, and LA active stroke volume index, P < .001) among the groups. Moreover, patients with more extended EOD had significantly worse LA reservoir and conduit functions. In the logistic regression analysis, the LA active stroke volume index was an independent predictor of EOD (82% sensitivity and 92% specificity, area under the curve = 0.96, P < .001). Conclusion: RT3DE measured LA phasic volumes and mechanical functions are associated with hypertensive EOD, which might serve as a surrogate endpoint for determining cardiovascular mortality and morbidity rates in patients with essential HT.
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The left atrium plays an important role in the maintenance of cardiovascular and neurohumoral homeostasis in heart failure. However, with progressive left ventricular dysfunction, left atrial (LA) dilation and mechanical failure develop, which frequently culminate in atrial fibrillation. Moreover, LA mechanical failure is accompanied by LA endocrine failure [deficient atrial natriuretic peptide (ANP) processing-synthesis/development of ANP resistance) and LA regulatory failure (dominance of sympathetic nervous system excitatory mechanisms, excessive vasopressin release) contributing to neurohumoral overactivity, vasoconstriction, and volume overload (global LA failure). The purpose of the present review is to describe the characteristics and emphasize the clinical significance of global LA failure in patients with heart failure. © 2016 The Authors. European Journal of Heart Failure
Article
Purpose Left atrial (LA) size has been shown to be a predictor of adverse cardiovascular outcomes. The aim of the study was to evaluate the direct effect of diabetes mellitus (DM) on left atrial volume and phasic functions by using real-time three-dimensional echocardiography (RT3DE) in a population of patients free of symptomatic cardiovascular disease and hypertension. Methods Comprehensive transthoracic echocardiographic examination was performed to 40 consecutive patients with DM (20 male, age: 50.5 ± 7.3 years) and 40 healthy controls (20 male, age: 48.4 ± 6.7 years). In addition to conventional 2D echocardiographic measurements RT3DE was performed to assess LA volumes and phasic functions. Results There were no significant difference between groups regarding parameters reflecting LV systolic function as LV diameters and ejection fraction. However, regarding parameters reflecting LV diastolic function; transmitral deceleration time and E/E’ ratio values were significantly higher and majority of early diastolic tissue Doppler velocity values were significantly lower in diabetic patients compared with controls. RT3DE demonstrated significantly higher LA maximum and minimum volumes for diabetic patients compared with controls (40.9 ± 11.9 vs 34.6 ± 9.3 mL, p: 0.009 and 15.6 ± 5.9 vs 11.9 ± 4.6 mL, p: 0,002, consecutively). LA total emptying fraction (TEF), expansion index (EI) and active emptying fraction (AEF) were found to be significantly lower in diabetics reflecting depressed LA reservoir and pump functions. There was no significant difference between groups regarding passive emptying fraction (PEF) which is assumed to be a marker of left atrial conduit function. Conclusion Patients with type 2 diabetes mellitus were found to have increased LA volume and impaired atrial compliance and contractility. Evaluation of asymptomatic diabetic patients by using RT3DE atrial volume analysis may facilitate recognition of subtle myocardial alterations related with type 2 diabetes.
Article
Left ventricular (LV) diastolic dysfunction is prevalent in the community. Current assessment of diastolic function can be complex, involving Doppler evaluation of an array of hemodynamic data. The relation between left atrial (LA) volume and diastolic function, and between LA volume and cardiovascular risk and disease burden are not well known. In the present prospective study of 140 adults, mean age 58 +/- 19 years, referred for a clinically-indicated echocardiogram and in sinus rhythm, with no history of atrial arrhythmias or valvular heart disease, we determined the LA volume, LV diastolic function status, cardiovascular risk score (based on age, gender, history of systemic hypertension, diabetes mellitus, hyperlipidemia, and smoking), and cardiovascular disease burden (based on confirmed vascular disease, congestive heart failure, and transient ischemic attack or stroke). LA volume was found to correlate positively with age, body surface area, cardiovascular risk score, LV end-diastolic and end-systolic dimensions, LV mass, diastolic function grade, tissue Doppler E/E', tricuspid regurgitation velocity, and negatively with LV ejection fraction (all p <0.006). In a multivariate clinical model, LA volume indexed to body surface area (indexed LA volume) was independently associated with cardiovascular risk score (p <0.001), congestive heart failure (p = 0.014), vascular disease (p = 0.012), transient ischemic attack or stroke (p = 0.021), and history of smoking (p = 0.008). In a clinical and echocardiographic model, indexed LA volume was strongly associated with diastolic function grade (p <0.001), independent of LV ejection fraction, age, gender, and cardiovascular risk score. In patients without a history of atrial arrhythmias or valvular heart disease, LA volume expressed the severity of diastolic dysfunction and provided an index of cardiovascular risk and disease burden.
Article
The availability of automated online software may increase the feasibility of real-time 3-dimensional (3D) echocardiography (3DE) for left ventricular (LV) volume calculation in clinical practice. We sought to compare offline and online approaches with magnetic resonance imaging (MRI). Patients who presented to the clinical laboratory for evaluation of LV parameters (n = 110, 94 men, age 63 +/- 10 years) were studied with 2-dimensional echocardiography, online and offline 3DE, and MRI. The 3DE measurements were obtained by a semiautomated LV border detection based on tracing (online) and edge detection (offline). MRI images were obtained using true free induction steady-state precession during breath hold, with measurement of 3D volumes and ejection fraction (EF). All echocardiographic techniques underestimated LV volumes, but EF estimations were similar. The best correlation was between MRI versus offline 3DE. The correlation of online 3DE with MRI was significantly better than 2-dimensional echocardiography (end-diastolic volume (EDV) z = 4.2, end-systolic volume (ESV) z = 4.44, EF z = 4.32; all P < .01). However, correlation of offline 3DE with MRI was significantly better than online 3DE (EDV z = 2.57, P < .05; ESV z = 2.42, P < .05; EF z = 3.82, P < .01). Images were considered to be good quality (endocardium visualized in all walls) in 49 patients; discrepancies between online and offline 3DE and MRI were similar in good- and poor-quality images. Wall-motion abnormalities were present in 98 patients; discrepancies with MRI were similar in patients with and without abnormal wall motion. Online measurement of LV volumes is feasible and more accurate than with 2-dimensional echocardiography. Although the offline approach is more accurate, it is also more time-consuming.
Clinical utility of multimodality LA imaging: assessment of size, function and structure
  • A C To
  • S D Flamm
  • T H Marwick
To AC, Flamm SD, Marwick TH, et al. Clinical utility of multimodality LA imaging: assessment of size, function and structure. JACC Cardiovasc Imaging. 2011;4(7):788−798.