Association between left ventricular perfusion defects and myocardial deformation indexes in heart transplantation recipients.

The aim of the study was to analyze possible correlations between strain echocardiography (STE) and PET myocardial perfusion in a population of heart transplantation (HTx) recipients showing preserved left ventricular (LV) ejection fraction. By STE, LV global longitudinal strain (LV GLS) was lower in HTx. PET showed no transient or chronic ischemia in 83 of 115 HTx (73%). Fixed perfusion defects were observed in 17% of HTx and reversible ischemia in 10%. Significant coronary stenosis was observed only in 10 cases. GLS was independently associated with age at HTx and fixed perfusion defects (HR 0.41; P<.001). Such relationships underline STE ability to early identify HTx pts with subclinical myocardial dysfunction during long-term follow-up.

Acute and Chronic Response to Exercise in Athletes: The "Supernormal Heart".

During last decades, most studies have examined the exercise-induced remodeling defined as "athlete's heart". During exercise, there is an increased cardiac output that causes morphological, functional, and electrical modification of the cardiac chambers. The cardiac remodeling depends also on the type of training, age, sex, ethnicity, genetic factors, and body size. The two main categories of exercise, endurance and strength, determine different effects on the cardiac remodeling. Even if most sport comprise both strength and endurance exercise, determining different scenarios of cardiac adaptation to the exercise. The aim of this paper is to assemble the current knowledge about physiologic and pathophysiologic response of both the left and the right heart in highly trained athletes.

Allelic Complexity in Long QT Syndrome: A Family-Case Study.

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants. We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. On the basis of in silico analysis, clinical data from our family, and the evidence from previous studies, we analyzed two mutated channels, KCNQ1-p.R583H and KCNH2-p.C108Y, using the whole-cell patch clamp technique. We found that KCNQ1-p.R583H was not associated with a severe functional impairment, whereas KCNH2-p.C108Y, a novel variant, encoded a non-functional channel that exerts dominant-negative effects on the wild-type. Notably, the common variants KCNH2-p.K897T and KCNE1-p.G38S were previously reported to produce more severe phenotypes when combined with disease-causing alleles. Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers.

Acute and Chronic Effects of Noninvasive Ventilation on Left and Right Myocardial Function in Patients with Obstructive Sleep Apnea Syndrome: A Speckle Tracking Echocardiographic Study.

BACKGROUND: In patients with obstructive sleep apnea syndrome (OSAS), repetitive hypoxia due to sleep-induced apnea adversely affects the interaction between myocardial oxygen demand and supply, resulting in the development of subclinical cardiac dysfunction. The purpose of the study was to analyze the different involvement of left and right heart myocardial function in patients with OSAS treated with noninvasive ventilation (NIV). METHODS: Conventional Doppler echocardiography, Doppler myocardial imaging (DMI), and two-dimensional speckle tracking echocardiography (2DSTE) of left (LV) and right ventricular (RV) longitudinal and right atrial (RA) deformation were performed in 55 patients with OSAS undergoing NIV (M/F 38/17; mean age 67.8 ± 11.2 years). LV and RV global longitudinal strain (GLS) was calculated by averaging local strain along the entire right and left ventricle, before and during NIV, and after 6 months of nocturnal NIV therapy. RESULTS: LV morphology was comparable before and during NIV, whereas LV ejection fraction and LV DMI early diastolic peak velocity were significantly improved in patients with OSAS during NIV, as was LV regional peak myocardial strain (P < 0.001). RV diameters were slightly increased in patients with OSAS during ventilation, whereas pulmonary artery systolic pressure (PASP), RV GLS, and regional peak myocardial RV strain were significantly reduced during ventilation (P < 0.0001). RA transverse diameters and RA area were also slightly increased during NIV, whereas RA lateral wall strain was reduced (P < 0.001). Acute RV myocardial impairment completely reversed at follow-up, with a decrease in PASP and subsequent increase in both RV and RA myocardial performance. CONCLUSIONS: Conventional 2DSTE is a useful tool for assessing left and right heart morphology and myocardial deformation in patients with OSAS and for monitoring both acute and chronic effects of NIV.

Right Ventricular Structure and Function in Idiopathic Pulmonary Fibrosis with or without Pulmonary Hypertension.

AIMS: To elucidate right ventricular (RV) function in patients with idiopathic pulmonary fibrosis (IPF) with and without pulmonary hypertension (PH) and its relation to other features of the disease. METHODS AND RESULTS: Clinical evaluation, standard Doppler echo, Doppler myocardial imaging (DMI), and 2D strain echocardiography (STE) of RV septal and lateral walls were performed in 52 IPF patients (66.5 ± 8.5 years; 27 males) and in 45 age- and sex-comparable controls using a commercial US system (MyLab Alpha, Esaote). Pulmonary artery mean pressure (mPAP) was estimated by standard echo Doppler. RV global longitudinal strain (RV GLS) was calculated by averaging RV local strains. The IPF patients were divided into 2 groups by noninvasive assessment of PH: no PH (mPAP<25 mmHg; 36 pts) and PH (mPAP ≥25 mmHg; 16 pts). Left ventricular diameters and ejection fraction were comparable between controls and IPF, while GLS was impaired in IPF (P < 0.01). RV end-diastolic diameters, wall thickness andmPAP were increased in IPF patients with PH. In addition, pulsed DMI detected in PH IPF impaired myocardial RV early diastolic (Em) peak velocity. Also peak systolic RV strain was reduced in basal and middle RV lateral free walls in IPF, as well as RV GLS (P < 0.0001). The impairment in RV wall strain was more evident when comparing controls with the no PH group than comparing the no PH group with the PH group. By multivariate analysis, independent association of RV strain with both six-minute walking test distance (P < 0.001), mPAP (P < 0.0001), as well as with forced vital capacity (FVC) % (P < 0.005) in IPF patients were observed. CONCLUSIONS: Impaired RV diastolic and systolic myocardial function were present even in IPF patients without PH, which indicates an early impact on RV function and structure in patients with IPF.

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c.906-7G>T, MYBPC3-c.2308+3G>C, SCN5A-c.393-5C>A, and ACTC1-c.617-7T>C) found in five patients affected by inherited cardiomyopathies in the attempt to verify their pathogenic role. Analysis of the MYBPC3-c.506-2A>C mutation in mRNA from the peripheral blood of one of the patients affected by hypertrophic cardiac myopathy revealed the loss of the canonical splice site and the use of an alternative splicing site, which caused the loss of the first seven nucleotides of exon 5 (MYBPC3-G169AfsX14). In the other four patients, we generated minigene constructs and transfected them in HEK-293 cells. This minigene approach showed that MYBPC3-c.2308+3G>C and SCN5A-c.393-5C>A altered pre-mRNA processing, thus resulting in the skipping of one exon. No alterations were found in either MYBPC3-c.906-7G>T or ACTC1-c.617-7T>C. In conclusion, functional in vitro analysis of the effects of potential splicing mutations can confirm or otherwise the putative pathogenicity of non-coding mutations, and thus help to guide the patient's clinical management and improve genetic counseling in affected families.

Genetics of Takotsubo Syndrome.

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, ß1-, and ß2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS.

Right heart structural and functional remodeling in athletes.

Long-term intensive exercise training programs lead to numerous progressive cardiac adaptations, which are collectively termed "athlete's heart." Noninvasive diagnostic techniques, such as color Doppler echocardiography, have been widely used in the analysis of the athlete's heart. Initial experiences focused mainly on left heart adaptations to training. However, in recent years, substantial structural and functional adaptations of the right heart have been documented. The present review article focuses on recent data defining right heart adaptation to short- and long-term periods of exercise training. Right ventricular (RV) morphology and function may be more profoundly affected by intense exercise and, in some cases, functional recovery may be incomplete. Moreover, there is speculation that such changes may represent a substrate for proarrhythmic RV remodeling in some highly trained athletes, even in the absence of a known familial redisposition.

Atrial Septal Aneurysms and Supraventricular Arrhythmias: The Role of Atrial Electromechanical Delay.

BACKGROUND: Paroxysmal supraventricular arrhythmias (SVAs) frequently occur in patients with atrial septal aneurysm (ASA). The aim of the current study was to evaluate the electrocardiographic (P-wave duration and dispersion) and echocardiographic (atrial electromechanical delay, AEMD) noninvasive indicators of atrial conduction heterogeneity in healthy ASA subjects without interatrial shunt and to assess the AEMD role in predicting the SVAs onset in this population. MATERIALS AND METHODS: One hundered ASA patients (41 males, mean age of 32.5 ± 8 years) and 100 healthy subjects used as controls, matched for age and gender, were studied for the occurrence of SVAs during a 4-year follow-up, through 30-day external loop recorder (ELR) monitoring performed every 3 months. ASAs were diagnosed by transthoracic echocardiography based on the criteria of a minimal aneurismal base of ≥15 mm and an excursion of ≥10 mm. Intra-AEMD and inter-AEMD of both atria were measured through tissue Doppler echocardiography. P-wave dispersion (PD) was carefully measured using 12-lead electrocardiogram (ECG). RESULTS: Compared to the healthy control group, the ASA group showed a statistically significant increase in inter-AEMD, intra-left AEMD, maximum P-wave duration, and PD. Dividing the ASA group into 2 subgroups (patients with or without SVAs), the inter-AEMD, intra-left AEMD, P max, and PD were significantly higher in the subgroup with SVAs compared to the subgroup without SVAs. There were significant good correlations of intra-left AEMD and inter-AEMD with PD. A cutoff value of 40.1 msec for intra-left AEMD had a sensitivity of 82% and a specificity of 83% in identifying ASA patients at risk for SVA. CONCLUSION: Our results showed that the echocardiographic AEMD indices (intra-left and inter-AEMD) and the PD were significantly increased in healthy ASA subjects without interatrial shunt. PD and AEMD represent noninvasive, inexpensive, useful, and simple parameters to assess the SVAs' risk in ASA patients.

Effects of transcatheter aortic valve implantation on left ventricular and left atrial morphology and function.

AIMS: Transcatheter aortic valve implantation (TAVI) is an alternative treatment in surgically high-risk or inoperable patients with severe aortic stenosis (AS). The objective of this study was to analyze the effects of TAVI on left ventricular (LV) and left atrial (LA) longitudinal function assessed by speckle tracking echocardiography (2DSTE) in patients with AS. METHODS: In our prospectively conducted study, a total of 55 symptomatic (New York Heart Association class II or higher) patients with severe AS, considered to be at increased risk for undergoing surgical aortic valve replacement, were recruited (age: 78.6 ± 7.4 year). Patients underwent a complete clinical and laboratory evaluation, in addition to standard echocardiography and 2DSTE. Echocardiographic analysis was performed before and 6 months after TAVI. 2DSTE measured segmental and global longitudinal strain (GLS) and radial strain. RESULTS: All the patients received the CoreValve self-expanding prosthesis. Six months after TAVI, patients showed a significant reduction in mean transaortic gradient (52.1 ± 15.8 vs. 11.2 ± 3.3 mmHg, P < 0.0001), LV mass, LA volume index, and an improvement of ejection fraction (P < 0.0001). In addition, LV GLS (-11.8 ± 3.2 vs. -16.3 ± 4.2%; P < 0.0001) and LA longitudinal strain (14.2 ± 5.4 vs. 26.6 ± 10.8%, P < 0.0001) significantly increased after TAVI. In a stepwise forward multiple logistic regression analysis, LV mass before TAVI (P < 0.001) and peak CK MB mass after TAVI (P < 0.0001) were powerful independent predictors of lower improvement of LV GLS. Moreover, LV mass index (P < 0.001) and LV GLS strain (P < 0.001) before TAVI were powerful independent predictor of LA longitudinal strain after TAVI CONCLUSIONS: TAVI in patients with AS resulted in geometric changes known as "reverse remodelling," and improved LV and LA function assessed by 2DSTE.

Right ventricular cardiomyopathies: a multidisciplinary approach to diagnosis.

The physiological importance of the right ventricle (RV) has been underestimated over the past years. Finally in the early 1950s through the 1970s, cardiac surgeons recognized the importance of RV function. Since then, the importance of RV function has been recognized in many acquired cardiac heart disease. RV can be mainly or together with left ventricle (LV) affected by inherited or acquired cardiomyopathy. In fact, RV morphological and functional remodeling occurs more common during cardiomyopathies than in ischemic cardiomyopathies and more closely parallels LV dysfunction. Moreover, there are some cardiomyopathy subtypes showing a predominant or exclusive involvement of the RV, and they are probably less known by cardiologists. The clinical approach to right ventricular cardiomyopathies is often challenging. Imaging is the first step to raise the suspicion and to guide the diagnostic process. In the differential diagnosis, cardiologists should consider athlete's heart, congenital heart diseases, multisystemic disorders, and inherited arrhythmias. However, a multiparametric and multidisciplinary approach, involving cardiologists, experts in imaging, geneticists, and pathologists with a specific expertise in these heart muscle disorders is required.

Inflammation and cardiovascular disease: from pathogenesis to therapeutic target.

Atherosclerosis represents the most common pathological substrate of coronary heart disease (CHD), and the characterization of the disease as a chronic low-grade inflammatory condition is now largely accepted. A number of mediators of inflammation have been widely studied, both as surrogate biomarkers and as causal agents, in the pathophysiological network of atherogenesis and plaque vulnerability. The epidemiological observation that biomarkers of inflammation are associated with clinical cardiovascular risk supports the theory that targeted anti-inflammatory treatment appears to be a promising strategy in reducing residual cardiovascular risk on the background of traditional medical therapy. A large number of randomized controlled trials have shown that drugs commonly used in cardiovascular disease (CVD), such as statins, may be effective in the primary and secondary prevention of cardiovascular events through an anti-inflammatory effect. Moreover, several anti-inflammatory drugs are being tested for their potential to reduce residual cardiovascular risk on the background of validated medical therapy for atherosclerotic disease. In this paper, we review relevant evidence with regard to the relationship between inflammation and CVD, from pathogenesis to therapeutic strategies.

Far field R-wave sensing in Myotonic Dystrophy type 1: right atrial appendage versus Bachmann's bundle region lead placement.

Aim of the present study was to investigate far field R-wave sensing (FFRS) timing and characteristics in 34 Myotonic Dystrophy type 1 (DM1) patients undergoing dual chamber pacemaker implantation, comparing Bachmann's bundle (BB) stimulation (16 patients) site with the conventional right atrial appendage (RAA) pacing site (18 patients). All measurements were done during sinus rhythm and in supine position, with unipolar (UP) and bipolar (BP) sensing configuration. The presence, amplitude threshold (FFRS trsh) and FFRS timing were determined. There were no differences between both atrial sites in the Pmin and Pmean values of sensed P-wave amplitudes, as well as between UP and BP sensing configurations. The FFRS trsh was lower at the BB region in comparison to the RAA site. The mean BP FFRS trsh was significantly lower than UP configuration in both atrial locations. There were no significant differences in atrial pacing threshold, sensing threshold and atrial lead impedances at the implant time and at FFRS measurements. Bachmann's bundle area is an optimal atrial lead position for signal sensing as well as conventional RAA, but it offers the advantage of reducing the oversensing of R-wave on the atrial lead, thus improving functioning of standard dual chamber pacemakers in DM1 patients.

The effect of atrial preference pacing on atrial fibrillation electrophysiological substrate in Myotonic Dystrophy type 1 population.

P-wave dispersion is a non invasive indicator of intra-atrial conduction heterogeneity producing substrate for reentry, which is a pathophysiological mechanism of atrial fibrillation. The relationship between P-wave dispersion (PD) and atrial fibrillation (AF) in Myotonic dystrophy type 1 (DM1) patients is still unclear. Atrial Preference Pacing (APP) is an efficient algorithm to prevent paroxysmal AF in patients implanted with dual-chamber pacemaker. Aim of our study was to evaluate the possible correlation between atrial preference pacing algorithm, P-wave dispersion and AF burden in DM1 patients with normal cardiac function underwent permanent dual-chamber pacemaker implantation. We enrolled 50 patients with DM1 (age 50.3 ± 7.3; 11 F) underwent dual-chamber pacemaker implantation for various degree of atrioventricula block. The study population was randomized following 1 months stabilization period to APP algorithm features programmed OFF or ON. Patients were assessed every 3 months for the first year, and every 6 months thereafter up to 3 years. At each follow-up visit, we counted: the number of premature atrial beats, the number and the mean duration of AF episodes, AF burden and the percentage of atrial and ventricular pacing. APP ON Group showed lower number of AF episodes (117 ± 25 vs. 143 ± 37; p = 0.03) and AF burden (3059 ± 275 vs. 9010 ± 630 min; p < 0.04) than APP OFF Group. Atrial premature beats count (44903 ± 30689 vs. 13720 ± 7717 beats; p = 0.005) and Pwave dispersion values (42,1 ± 11 ms vs. 29,1 ± 4,2 ms, p = 0,003) were decreased in APP ON Group. We found a significant positive correlation between PD and AF burden (R = 0,8, p = 0.007). Atrial preference pacing algorithm, decreasing the number of atrial premature beats and the P-wave dispersion, reduces the onset and perpetuator factors of AF episodes and decreases the AF burden in DM1 patients underwent dual chamber pacemaker implantation for various degree of atrioventricular blocks and documented atrial fibrillation.

Left atrium by echocardiography in clinical practice: from conventional methods to new echocardiographic techniques.

Although often referred to as "the forgotten chamber", compared with left ventricle (LV), especially in the past years, the left atrium (LA) plays a critical role in the clinical expression and prognosis of patients with heart and cerebrovascular disease, as demonstrated by several studies. Echocardiographers initially focused on early detection of atrial geometrical abnormalities through monodimensional atrial diameter quantification and then bidimensional (2D) areas and volume estimation. Now, together with conventional echocardiographic parameters, new echocardiographic techniques, such as strain Doppler, 2D speckle tracking and three-dimensional (3D) echocardiography, allow assessing early LA dysfunction and they all play a fundamental role to detect early functional remodelling before anatomical alterations occur. LA dysfunction and its important prognostic implications may be detected sooner by LA strain than by volumetric measurements.

Atrial Fibrillation and Beta Thalassemia Major: The Predictive Role of the 12-lead Electrocardiogram Analysis.

BACKGROUND: Paroxysmal atrial tachyarrhythmias frequently occur in beta-thalassemia major (ß-TM) patients.The aim of our study was to investigate the role of maximum P-wave duration (P max) and dispersion (PD), calculated trough a new manually performed measurement with the use of computer software from all 12-ECG-leads,as predictors of atrial-fibrillation (AF) in ß-TM patients with conserved systolic or diastolic cardiac function during a twelve-months follow-up. MATERIALS AND METHODS: 50 ß-TM-patients (age38.4±10.1; 38M) and 50-healthy subjects used as controls, matched for age and gender, were studied for the occurrence of atrial arrhythmias during a 1-year follow-up, through ECG-Holter-monitoring performed every three months. The ß-TM-patients were divided into two groups according to number and complexity of premature-supraventricular-complexes at the Holter-Monitoring (Group1: <30/h and no repetitive forms, n:35; Group2: >30/h or couplets, or run of supraventricular tachycardia and AF, n:15). RESULTS: Compared to the healthy control-group, ß-TM patients presented increased P-max (107.5± 21.2 vs 92.1±11ms, P=0.03) and PD-values (41.2±13 vs 25.1±5 ms,P=0.03). In the ß-TM population, the Group2 showed a statistically significant increase in PD (42.8±8.6 vs 33.2±6.5ms, P<0.001) and P-max (118.1±8.7 vs 103.1±7.5ms, P<0.001) compared to the Group1. Seven ß-TM patients who showed paroxysmal AF during this study had significantly increased P-max and PD than the other patients of the Group2. Moreover, P-max (OR:2.01; CI:1.12-3.59; P=0.01) and PD (OR=2.06;CI:1.17-3.64;P=0.01) demonstrated a statistically significant association with the occurrence of paroxysmal AF,P min was not associated with AF-risk (OR=0.99; CI:0.25-3.40; P=0.9) in ß-TM-patients. A cut-off value of 111ms for P-max had a sensitivity of 80% and a specificity of 87%, a cut-off value of 35.5ms for PD had a sensitivity of 90% and a specificity of 85% in identifying ß-TM patients at risk for AF. CONCLUSION: Our results indicate that P-max and PD are useful electrocardiographic markers for identifying the ß-TM-high-risk patients for AF onset, even when the cardiac function is conserved.

Atrial fibrillation burden in Myotonic Dystrophy type 1 patients implanted with dual chamber pacemaker: the efficacy of the overdrive atrial algorithm at 2 year follow-up.

The role that atrial pacing therapy plays on the atrial fibrillation (AF) burden is still unclear. Aim of the study was to evaluate the effect of the atrial preference pacing algorithm on AF burden in patients affected by Myotonic Dystrophy type 1 (DM1) followed for a long follow up period. Sixty DM1 patients were -implanted with a dual chamber pacemaker (PM) for first degree or symptomatic type 1/type 2 second degree atrio-ventricular blocks- were followed for 2-years after implantation, by periodical examination. After 1 month of stabilization, they were randomized into two groups: 1) Patients implanted with conventional dual-chamber pacing mode (DDDR group) and 2) Patients implanted with DDDR plus Atrial Preference Pacing (APP) algorithm (APP ON group). The results showed that atrial tachycardia (AT)/AF burden was significantly reduced at 1 year follow up in the APP ON group (2122 ± 428 minutes vs 4127 ± 388 minutes, P = 0.03), with a further reduction at the end of the 2 year follow up period (4652 ± 348 minutes vs 7564 ± 638 minutes, P = 0.005). The data here reported show that the APP is an efficient algorithm to reduce AT/AF burden in DM1 patients implanted with dual chamber pacemaker.

Left atrial volume index in healthy subjects: clinical and echocardiographic correlates.

Left atrial (LA) size is related to cardiovascular morbidity and mortality. The relative role of multiple determinants of LA morphology in healthy subjects remains incompletely defined. The aim of this study is to define normal ranges for LA diameters and volume index (LAVi), and to investigate clinical and echocardiographic correlates. A total of 1480 healthy individuals (mean age 36.1 ± 15.5 years, range 20-80; 61% males) underwent a comprehensive transthoracic echocardiography exam including assessment of LAVi calculated using the biplane area-length method at the apical four-chamber and two-chamber views at ventricular end systole (maximum LA size) and indexed for body surface area (BSA). Mean LAVi in the overall population was 29.5 ± 10.8 mL/m(2) (range: 26.1-41.8 mL/m(2) ). Distinct higher values were found in subjects ≥50 years as compared with those <50 years of age (33.4 ± 12.5 vs. 29.1 ± 13.5; P < 0.001). On univariate analysis, LA volume was significantly associated with age (r = 0.48, P < 0.0001), male gender (r = 0.28, P < 0.05), BSA (r = 0.51, P < 0.0001), mitral E/E' (r = 0.47, P < 0.0001), LV end-diastolic volume (r = 0.52, P < 0.0001), and LV mass index (r = 0.31, P < 0.05). Multivariable analysis identified age, BSA, LV end-diastolic volume, and mitral E/E' ratio as the only independent determinants of LA volume (model R(2) = 0.54, P < 0.0001). Gender was an independent predictor of most absolute LA volume, but following normalization to BSA, some associations became nonsignificant. In healthy individuals LAVi vary significantly by age, BSA, diastolic function, and LV dimensions, with lesser effects of gender.

Impact of the Amplatzer atrial septal occluder device on left ventricular function in pediatric patients.

Percutaneous closure currently is widely considered to be the first-choice therapeutic option in the treatment of ostium secundum atrial septal defect (ASD). The Amplatzer Septal Occluder (ASO) device is the most used prosthesis, although its influence on cardiac function still is under active investigation. This study aimed to evaluate the impact of the ASO device size on left ventricular (LV) function in pediatric patients using the speckle-tracking strain imaging technology. The study enrolled 43 nonobese pediatric patients submitted to percutaneous ASD closure with the Amplatzer Septal Occluder device and grouped them according to the size of the occluding prosthesis into three groups: a small-device group (≤ 10 mm, group 1), a medium-size-device group (11-16 mm, group 2), and a large-device group (≥ 17 mm, group 3). Echocardiographic data were compared among the groups and with the data of an age-, weight-, and gender-matched control group (50 patients). The large-device group showed a significant impairment in the strain rate value of the basal LV segments. In particular, the mean basal circumferential and radial strain rate values were lower than either normal or the values of the small- and medium-device groups. However, only the absolute device diameter reached statistical significance in the multivariate analysis. The large Amplatzer Septal Occluding device significantly impaired LV systolic function, particularly that of juxtaprosthetic segments, as shown in the strain rate analysis.

Takotsubo cardiomyopathy: do the genetics matter?

Takotsubo cardiomyopathy (TTC) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. Recent experimental and clinical observation has suggested a role for genetics in the pathogenesis of TTC. Ethnic as well as seasonal variation in the prevalence of TTC is well described, but it is only recently that familial cases of TTC have been reported. In recent years technological advances in exome capture and DNA sequencing have offered clinicians a new opportunity to discover genetics-related disease. This article explores the role of genetic mechanisms that might explain or modulate the pathogenesis of TTC.