Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding fibrillin-1 (FBN1), a matrix component of microfibrils. Dural ectasia, i.e.

Acute hemodynamic effect of left ventricular endocardial pacing in cardiac resynchronization therapy: assessment by pressure-volume loops.

Background: During cardiac resynchronization therapy (CRT) device implantation, the pacing lead is usually positioned in the coronary sinus (CS) to stimulate the left ventricular (LV) epicardium. Transvenous LV endocardial pacing via transseptal puncture has been proposed as an alternative method. In the present study, we evaluated the acute hemodynamic effects of CRT through LV endocardial pacing in heart failure patients by analyzing LV pressure-volume relationships.

Right ventricular function in AL amyloidosis: characteristics and prognostic implication.

Aim: The importance of right ventricle (RV) dysfunction in AL amyloidosis has been underestimated. This study was designed to comprehensively evaluate RV function and its prognostic role in patients with AL amyloidosis with and without echocardiographic evidence of cardiac involvement.

Method And Results: Fifty-two biopsy-proven AL amyloidosis patients underwent a thorough echocardiographic evaluation.

Application of the Seattle Heart Failure Model in patients on cardiac resynchronization therapy.

Background: The Seattle Heart Failure Model (SHFM) is a multimarker risk assessment tool able to predict outcome in heart failure (HF) patients.

Aim: To assess whether the SHFM can be used to risk-stratify HF patients who underwent cardiac resynchronization therapy with (CRT-D) or without (CRT) an implantable defibrillator.

Methods And Results: The SHFM was applied to 342 New York Heart Association class III-IV patients who received a CRT (23%) or CRT-D (77%) device.

Discordant electrical and mechanical atrial delays affect intracavitary electrogram-based cardiac resynchronization therapy optimization.

Aims: It has been shown that atrioventricular (AV) delay optimization improves cardiac resynchronization therapy (CRT) response. Recently, an automatic algorithm (QuickOpt™, St Jude Medical), able to quickly identify the individual optimal AV interval, has been developed. The algorithm suggests an AV delay based on atrial intracavitary electrogram (IEGM) duration.

Cardiac amyloidosis: the heart of the matter.

Amyloidosis comprises a unique group of diseases that share in common the extracellular deposition of insoluble fibrillar proteins in organs and tissue including the heart. Cardiac amyloidosis could be primary a part of systemic acquired amyloidosis, or a result of heredofamilial amyloidosis. Although the infiltration of the heart from different types of amyloid results in restrictive cardiomyopathy that manifests with refractory congestive heart failure and conduction abnormalities, unequivocal identification of the deposited amyloidogenic protein is mandatory in order to avoid misdiagnosis and inappropriate treatment.

Multicenter experience with implantable defibrillators subject to recall.

Background: The management of implantable cardioverter defibrillators (ICDs) affected by advisories, which often include generator replacement, is complex and the risk of device failure needs to be carefully assessed for each patient.

Methods: We analyzed the response to the advisory communication in the Italian centers involved in the recall for the Prizm 1861 and Renewal (Boston Scientific-formerly Guidant-St. Paul, MN, USA) communication.

Rotational mechanics of the left ventricle in AL amyloidosis.

Aims: The aim of this study was to investigate whether alterations in left ventricular (LV) twisting and untwisting motion could be induced by cardiac involvement in patients with immunoglobulin light-chain (AL) systemic amyloidosis.

Methods And Results: Forty-five patients with AL amyloidosis and 26 control subjects were evaluated. After standard echocardiographic measurement and two-dimensional (2D) speckle tracking echocardiography, LV rotation at both basal and apical planes, twisting, twisting rate, and longitudinal strain were measured.

Tricuspid annular plane systolic excursion evaluation improves selection of cardiac resynchronization therapy patients.

Background: The beneficial effects of cardiac resynchronization therapy (CRT) on left ventricular (LV) remodeling have been extensively described. Few data are available about the effects of CRT on right ventricular (RV) function and remodeling.

Hypothesis: We hypothesized that CRT could also induce reverse remodeling in the right ventricle and that RV baseline functional status expressed as tricuspidal annular plane systolic excursion (TAPSE) could affect CRT response.

Cardiac memory in humans: vectocardiographic quantification in cardiac resynchronization therapy.

Background: "Cardiac memory" (CM) refers to a change in repolarization induced by an altered pathway of activation. The effects of biventricular pacing on CM induction have not been investigated.

Objective: To investigate the development of CM during cardiac resynchronization therapy (CRT) through vectorcardiography (VCG).

Has mechanical dyssynchrony still a role in predicting cardiac resynchronization therapy response?

Unlabelled: Current guidelines for cardiac resynchronization therapy (CRT) include electrical but not mechanical dyssynchrony assessment. Our study aims to investigate the effects of isolated or combined mechanical and electrical dyssynchrony, according, respectively, to a standard deviation of tissue Doppler imaging (TDI) derived time to systolic peak ≥32.6 ms and to a QRS duration ≥120 ms, in predicting CRT reverse remodeling.

Effects of cardiac resynchronization therapy on systemic inflammation and neurohormonal pathways in heart failure.

Background: The effect of cardiac resynchronization therapy (CRT) on systemic inflammation and neurohormonal alterations associated with heart failure is not well characterized. Accordingly, we aimed to assess the long term effects of CRT on systemic inflammation and neurohormonal factors in heart failure patients.

Methods And Results: In 47 HF patients (NYHA III-IV) we evaluated, at baseline and after one year of CRT: TNF-alpha, TNF soluble receptors (sTNFR1 and sTNFR2), insulin-like growth factor-1alpha (IGF-1alpha), adiponectin, norepinephrine, pro-atrial natriuretic peptide (pro-ANP), N-terminal-pro-brain natriuretic peptide (NT-proBNP) and angiotensin II, NYHA functional class, quality of life (the Minnesota Living with Heart Failure questionnaire), a 6-minute walk test and an echocardiogram.

Tissue Doppler and strain imaging: a new tool for early detection of cardiac amyloidosis.

Using traditional echocardiography, the diagnosis of cardiac amyloidosis (CA) is often only possible in advanced stage when recommended therapies may have adverse effects. The aim of our study was to evaluate whether additional information can be derived from Tissue and strain Doppler imaging (TDI and SDI). Forty patients with systemic amyloidosis and 24 healthy subjects underwent traditional, tissue and strain Doppler echocardiography.

Dual-site left ventricular cardiac resynchronization therapy.

Simultaneous stimulation of 2 left ventricular (LV) sites could enhance the effectiveness of cardiac resynchronization therapy (CRT). The aim of this study was to evaluate the acute hemodynamic response to dual-site LV CRT. Two LV pacing leads were successfully implanted in 12 CRT candidates (New York Heart Association classes III to IV, QRS >or=120 ms).

Vascular and connective tissue features in 5 Italian patients with homocystinuria.

Homocystinuria is a metabolic disorder associated with defects in genes encoding for methionine metabolism enzymes. Vascular and connective tissue manifestations such as deep venous thrombosis, ectopia lentis and skeletal alterations are the major clinical features. We investigated the clinical manifestations of 5 Italian homocystinuric patients, performed mutation screening analysis on cystationine beta-synthase (CBS) gene and searched for genotype/phenotype correlations.

A real-time three-dimensional echocardiographic validation of an intracardiac electrogram-based method for optimizing cardiac resynchronization therapy.

Introduction: Although optimization of atrioventricular and interventricular delays has been demonstrated to improve hemodynamics in patients with cardiac resynchronization therapy (CRT), the required time-consuming procedure discourages its use in clinical practice. Recently, a new method for CRT optimization based on the intracardiac electrogram (IEGM) detected by the implanted leads, has been developed. We evaluated the effectiveness of this method in improving left ventricular (LV) asynchrony and performance using real-time 3D echocardiography (RT3DE).

Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up.

Purpose: Ectopia lentis (EL) and Marfan syndrome (MFS) are considered two distinct clinical entities. We performed genetic and clinical studies to investigate whether EL is actually distinct from MFS or if it is a mild phenotypic expression of it.

Methods: Seven patients with EL were followed for 5-10 years.

Cardiac resynchronization therapy: gender related differences in left ventricular reverse remodeling.

Aim: Gender related differences in epidemiology, treatment, and prognosis of heart failure (HF) have been reported. We examined the sex influence in patients treated with cardiac resynchronization therapy (CRT).

Methods And Results: Out of 334 consecutive HF patients (19.

May TGFBR1 act also as low penetrance allele in Marfan syndrome?

Marfan syndrome, a human disease involving cardiovascular and skeletal apparatuses and ocular and central nervous systems, is associated to mutations in FBN1 gene; heterozygous mutations in TGFBR2 and TGFBR1 genes were found associated to MFS type 2, characterized by the presence of skeletal and cardiovascular major criteria and absence of eye major criterion. We screened the TGFBR1 gene in 46 Marfan patients in whom mutations in FBN1 and TGFBR2 genes were excluded and the analysis of Ex1 was extended to additional 114 Marfan patients and 237 controls. We detected two potentially pathological sequence variants: the TGFBR1 6Ala allele whose frequency was higher in the group of Marfan patients (0.

Relation of inflammatory status to major adverse cardiac events and reverse remodeling in patients undergoing cardiac resynchronization therapy.

Background: Inflammatory markers are involved in heart failure (HF) pathophysiology. However, the link between these markers and reverse remodeling as well as major adverse cardiac events (HF death, sudden death, and unplanned cardiac rehospitalizations) in patients who undergo cardiac resynchronization therapy (CRT) has not been evaluated.

Methods And Results: We recorded major adverse cardiac events of 140 patients (on optimized medical therapy, left ventricular ejection fraction 29.

Temporal variation in optimal atrioventricular and interventricular delay during cardiac resynchronization therapy.

Background: Tailored atrioventricular delay (AVd) and interventricular delay (VVd) combination improves hemodynamics in patients treated with cardiac resynchronization therapy (CRT). Whether tailored AVd-VVd combination changes over time is not known.

Methods And Results: Twenty-two patients (18 M, aged 69.

Utility of a new left ventricular asynchrony index as a predictor of reverse remodelling after cardiac resynchronization therapy.

Aims: The majority of tissue Doppler indexes proposed to predict left ventricular (LV) reverse remodelling in cardiac resynchronization therapy (CRT) reflects LV asynchrony as assessed in ejection phase. We evaluated the predictive value of a new strain-imaging parameter reflecting the total amount of time spent by 12 LV segments in contracting after aortic valve closure.

Methods And Results: Fifty-nine patients who fulfilled current treatment recommendations were studied before and 6 months after CRT.