Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.

Fabry disease (FD) is an X-linked disease characterized by an accumulation of glycosphingolipids, notably of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3) leading to renal failure, cardiomyopathy, and cerebral strokes. Inflammatory processes are involved in the pathophysiology. We investigated the immunological phenotype of peripheral blood mononuclear cells in Fabry patients depending on the clinical phenotype, treatment, Gb3, and lysoGb3 levels and the presence of anti-drug antibodies (ADA). Leucocytes from 41 male patients and 20 controls were analyzed with mass cytometry using both unsupervised and supervised algorithms. FD patients had an increased expression of CD27 and CD28 in memory CD45- and CD45 + CCR7-CD4 T cells (respectively p < 0.014 and p < 0.02). Percentage of CD45RA-CCR7-CD27 + CD28+ cells in CD4 T cells was correlated with plasma lysoGb3 (r = 0.60; p = 0.0036) and phenotype (p < 0.003). The correlation between Gb3 and CD27 in CD4 T cells almost reached significance (r = 0.33; p = 0.058). There was no immune profile associated with the presence of ADA. Treatment with agalsidase beta was associated with an increased proportion of Natural Killer cells. These findings provide valuable insights for understanding FD, linking Gb3 accumulation to inflammation, and proposing new prognostic biomarkers.

A new score for life-threatening ventricular arrhythmias and sudden cardiac death in adults with transposition of the great arteries and a systemic right ventricle.

AIMS: To investigate the incidence of major adverse ventricular arrhythmias and related events (MAREs) and to develop a stratification tool predicting MAREs in adults with a systemic right ventricle (sRV). METHODS AND RESULTS: In a multicentre approach, all adults (≥16 years old) with a sRV undergoing follow-up between 2000 and 2018 were identified. The incidence of MAREs, defined as sudden cardiac death, sustained ventricular tachycardia, and appropriate implantable cardioverter-defibrillator (ICD) therapy, was analysed. The association of MAREs with clinical, electrical, and echocardiographic parameters was evaluated. A total of 1184 patients (median age 27.1 years; interquartile range 19.9-34.9 years; 59% male; 70% with atrial switch repair for D-transposition of the great arteries) were included. The incidence of MAREs was 6.3 per 1000 patient-years. On multivariate analysis, age, history of heart failure, syncope, QRS duration, severe sRV dysfunction and at least moderate left ventricular outflow tract obstruction were retained in the final model with a C-index of 0.78 [95% confidence interval (CI) 0.72-0.83] and a calibration slope of 0.93 (95% CI 0.64-1.21). For every five ICDs implanted in patients with a 5-year MARE risk >10%, one patient may potentially be spared from a MARE. CONCLUSION: Sudden cardiac death remains a devastating cause of death in a contemporary adult cohort with a sRV. A prediction model based on clinical, electrocardiographic, and echocardiographic parameters was devised to estimate MARE risk and to identify high-risk patients who may benefit from primary prevention ICD implantation.

Definition of left ventricular remodelling following ST-elevation myocardial infarction: a systematic review of cardiac magnetic resonance studies in the past decade.

An increase in left ventricular volumes between baseline and follow-up imaging is the main criteria for the quantification of left ventricular remodelling (LVR) after ST-elevation myocardial infarction (STEMI), but without consensual definition. We aimed to review the criteria used for the definition of LVR based on cardiac magnetic resonance imaging (CMR) in STEMI patients. A systematic literature search was conducted using MEDLINE and the Cochrane Library from January 2010 to August 2019. Thirty-seven studies involving 4209 patients were included. Among these studies, 30 (81%) used a cut-off value for defining LVR, with a pooled LVR prevalence estimate of 22.8%, 95% CI [19.4-26.7%] and a major between-study heterogeneity (I2 = 82%). The seven remaining studies (19%) defined LVR as a continuous variable. The definition of LVR using CMR following STEMI is highly variable, among studies including highly selected patients. A 20% increase or a 15% increase in left ventricular volumes between a baseline and a follow-up CMR imaging were the two most common criterion (13 [35%] and 9 [24%] studies, respectively). The most frequent LVR criterion was a 20% increase in end-diastolic volumes or a 15% increase in end-systolic volumes. A composite cut-off value of a 12 to 15% increase in end-systolic volume and a 12 to 20% increase in end-diastolic volume using a follow-up CMR imaging 3 months after STEMI might be proposed as a consensual cut-off for defining adverse LVR for future large-sized, prospective studies with serial CMR imaging and long-term follow-up in unselected patients.

Usefulness of a New Transthoracic Echocardiography Score to Assess Right Ventricular Volumes in Patients with Repaired Tetralogy of Fallot.

Quantification of right ventricular (RV) volumes is essential in the follow-up of patients with a repaired tetralogy of Fallot (TOF). Cardiac magnetic resonance imaging (MRI) is the gold standard for RV assessment. However, given its cost and availability, the systematic use of MRI for serial longitudinal follow-up is limited. Herein, we examined the utility of a new two-dimensional (2D) transthoracic echocardiography (TTE) score (the RVDi score), which includes a compilation of 2D RV dimensions indexed to the body surface area, for predicting MRI-derived RV end-diastolic volume (RVEDV) in patients with a repaired TOF. Using our congenital heart clinic database, we retrospectively included 29 adult patients with a repaired TOF between February 2015 and July 2019. The 2D TTE RVDi score was compared with the MRI-derived RVEDV. Sensitivity and specificity values for predicting an RVEDVi > 150 ml/m2 were calculated. The TTE RVDi score was highly correlated (r = 0.944) with MRI RVEDVi. A cut-off RVDi score set at 120 mm/m2 predicted an RVEDVi > 150 ml/m2 with a sensitivity of 83% and specificity of 94%. Use of a simple echocardiographic score based on indexed RV dimensions from 2D standard TTE imaging may complement the assessment of RV volumes in TOF patients.

Long-Term Follow-Up of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator: The DAI-T4F Nationwide Registry.

BACKGROUND: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, and sudden cardiac death represents an important mode of death in these patients. Data evaluating the implantable cardioverter defibrillator (ICD) in this patient population remain scarce. METHODS: A Nationwide French Registry including all patients with tetralogy of Fallot with an ICD was initiated in 2010 by the French Institute of Health and Medical Research. The primary time to event end point was the time from ICD implantation to first appropriate ICD therapy. Secondary outcomes included ICD-related complications, heart transplantation, and death. Clinical events were centrally adjudicated by a blinded committee. RESULTS: A total of 165 patients (mean age, 42.2±13.3 years, 70.1% males) were included from 40 centers, including 104 (63.0%) in secondary prevention. During a median (interquartile range) follow-up of 6.8 (2.5-11.4) years, 78 (47.3%) patients received at least 1 appropriate ICD therapy. The annual incidence of the primary outcome was 10.5% (7.1% and 12.5% in primary and secondary prevention, respectively; P=0.03). Overall, 71 (43.0%) patients presented with at least 1 ICD complication, including inappropriate shocks in 42 (25.5%) patients and lead dysfunction in 36 (21.8%) patients. Among 61 (37.0%) patients in primary prevention, the annual rate of appropriate ICD therapies was 4.1%, 5.3%, 9.5%, and 13.3% in patients with, respectively, 0, 1, 2, or ≥3 guidelines-recommended risk factors. QRS fragmentation was the only independent predictor of appropriate ICD therapies (hazard ratio, 3.47 [95% CI, 1.19-10.11]), and its integration in a model with current criteria increased the 5-year time-dependent area under the curve from 0.68 to 0.81 (P=0.006). Patients with congestive heart failure or reduced left ventricular ejection fraction had a higher risk of nonarrhythmic death or heart transplantation (hazard ratio, 11.01 [95% CI, 2.96-40.95]). CONCLUSIONS: Patients with tetralogy of Fallot and an ICD experience high rates of appropriate therapies, including those implanted in primary prevention. The considerable long-term burden of ICD-related complications, however, underlines the need for careful candidate selection. A combination of easy-to-use criteria including QRS fragmentation might improve risk stratification. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT03837574.

"Chronic fatigue, quality of life and long-term side-effects of chemotherapy in patients treated for non-epithelial ovarian cancer: national case-control protocol study of the GINECO-Vivrovaire rare tumors INCa French network for rare malignant ovarian tumors".

BACKGROUND: Germ cell tumors and sex cord stromal tumors are rare cancers of the ovary. They mainly affect young women and are associated with a high survival rate. The standard treatment mainly involves conservative surgery combined with chemotherapy [bleomycin, etoposide and cisplatin (BEP)] depending on the stage and the prognostic factors, as for testicular cancers. As reported in testicular cancer survivors, chemotherapy may induce sequelae impacting quality of life, which has not yet been evaluated in survivors of germ cell tumors and sex cord stromal tumors. The GINECO-VIVROVAIRE-Rare tumor study is a two-step investigation aiming to assess i) chronic fatigue and quality of life and ii) long-term side-effects of chemotherapy with a focus on cardiovascular and pulmonary disorders. METHODS: Using self-reported questionnaires, chronic fatigue and quality of life are compared between 134 ovarian cancer survivors (cancer-free ≥2 years after treatment) treated with surgery and chemotherapy and 2 control groups (67 ovarian cancer survivors treated with surgery alone and 67 age-matched healthy women). Medical data are collected from patient records. In the second step evaluating the long-term side-effects of chemotherapy, a subgroup of 90 patients treated with chemotherapy and 45 controls undergo the following work-up: cardiovascular evaluation (clinical examination, non-invasive cardiovascular tests to explore heart disease, blood tests), pulmonary function testing, audiogram, metabolic and hormonal blood tests. Costs of sequelae will be also assessed. Patients are selected from the registry of the INCa French Network for Rare Malignant Ovarian Tumors, and healthy women by the 'Seintinelles' connected network (collaborative research platform). DISCUSSION: This study will provide important data on the potential long-term physical side-effects of chemotherapy in survivors of Germ Cell Tumors (GCT) and Sex Cord Stromal Tumors (SCST), especially cardiovascular and pulmonary disorders, and neurotoxicity. The identification of long-term side-effects can contribute to adjusting the treatment of ovarian GCT or SCST patients and to managing follow-up with adapted recommendations regarding practices and chemotherapy regimens, in order to reduce toxicity while maintaining efficacy. Based on the results, intervention strategies could be proposed to improve the management of these patients during their treatment and in the long term. TRIAL REGISTRATION: This trial was registered at clinicaltrials.gov : 03418844 , on 1 February 2018. This trial was registered on 25 October 2017 under the unique European identification number (ID-RCB): 2017-A03028-45. Recruitment Status: Recruiting. PROTOCOL VERSION: Version n° 4.2 dated from Feb 19, 2021. TRIAL SPONSOR: Centre François Baclesse, 3 avenue du Général Harris, F-14076 Caen cedex 05, France.

Impaired left atrial stiffness in patients with corrected congenital left ventricular outflow obstructions.

OBJECTIVE: We examined the left atrial stiffness index (LA Stiff) on echocardiography and its determinants in adults and adolescents with repaired congenital left ventricular outflow obstructions (c-LVOOs), including isolated subaortic stenosis (SAS), stenotic bicuspid aortic valve (BAV), and aortic coarctation (CoA). METHODS: Seventy-two patients (43 males, age: 31 ± 15 years) with repaired c-LVOOs (SAS: n = 12; BAV: n = 27; CoA: n = 33) were compared to 72 age- and sex-matched controls. 2D strain imaging was performed to assess left ventricular (LV) and LA function, including peak positive longitudinal LA strain (LAS), late diastolic LA strain (LDS), and LV global longitudinal strain (GLS). The (E/Ea)/LAS ratio was used to calculate LA Stiff. RESULTS: LA Stiff was significantly higher in the c-LVOO group than in the control group. Among the c-LVOO patients, the CoA group had the lowest GLS and the highest LA Stiff; no significant differences were found with respect to sex, hypertension history, smoking status, or repeated repair among c-LVOO subtypes. Multivariable regression analysis with the variables "BMI" and "c-LVOO subtype" revealed that BMI and c-LVOO subtypes were independently associated with LA Stiff (b = 0.290, P = .009 and b = 0.353, P = .002, respectively). CONCLUSIONS: We documented abnormal LA Stiff values in adults and adolescents after c-LVOO repair. Patients with CoA demonstrated the most impaired LA Stiff values. Overweight may contribute to worse LA Stiff values. Further studies are required to determine the prognostic implications of LA Stiff in patients with repaired c-LVOOs.

Impaired left atrial function in adults and adolescents with corrected aortic coarctation.

This study examined the left atrial (LA) function using two-dimensional (2D) strain analysis after aortic coarctation (CoA) repair, as well as relationships between LA function and patient characteristics, especially aortic arch anatomy. 56 patients (34 males, age: 31 ± 16 years) with CoA repair (46 post 'end-to-end anastomosis/subclavian flap') and 56 controls were studied. 2D strain imaging was performed to assess left ventricular (LV) and LA functions including peak-positive LA strain, early and late diastolic LA strains, and global longitudinal (LV-GLS) and circumferential (LV-GCS) strains. LA dysfunction (LAD) was defined as a peak-positive LA strain value lower than the mean value of the control group minus 2 SDs. Peak-positive LA strain, early and late diastolic LA strains, and LV-GLS were significantly lower in the CoA group while LV-GCS did not differ. No significant correlation was found between LA strain and either current age, age at initial repair, or blood pressure; Ea and LV-GLS were moderately correlated to peak-positive LA strain (r = 0.49, p < 0.001 and r = - 0.55, p < 0.001, respectively). 23 CoA patients (41%) presented LAD (abnormal peak-positive LA strain < 25%). Among patients who underwent end-to-end anastomosis/subclavian flap, those with a non-romanesque aortic arch anatomy exhibited a significantly lower peak-positive LA strain. Ischemic stroke and atrial arrhythmia were more frequent in CoA patients with LAD. Our findings suggest that LAD may be prevalent late after CoA repair. Postoperative aortic arch anatomy may impact peak-positive LA strain.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

BACKGROUND: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. METHODS: We included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries, referred to 5 tertiary centers for cardiomyopathies, in the validation sample. LTVTA was defined as (1) sudden cardiac death or (2) implantable cardioverter defibrillator-treated or hemodynamically unstable VTA. The prognostic model was derived using the Fine-Gray regression model. The net reclassification was compared with current clinical practice guidelines. The results are presented as means (SD) or medians [interquartile range]. RESULTS: We included 444 patients, 40.6 (14.1) years of age, in the derivation sample and 145 patients, 38.2 (15.0) years, in the validation sample, of whom 86 (19.3%) and 34 (23.4%) experienced LTVTA over 3.6 [1.0-7.2] and 5.1 [2.0-9.3] years of follow-up, respectively. Predictors of LTVTA in the derivation sample were: male sex, nonmissense LMNA mutation, first degree and higher atrioventricular block, nonsustained ventricular tachycardia, and left ventricular ejection fraction (https://lmna-risk-vta.fr). In the derivation sample, C-index (95% CI) of the model was 0.776 (0.711-0.842), and the calibration slope 0.827. In the external validation sample, the C-index was 0.800 (0.642-0.959), and the calibration slope was 1.082 (95% CI, 0.643-1.522). A 5-year estimated risk threshold ≥7% predicted 96.2% of LTVTA and net reclassified 28.8% of patients with LTVTA in comparison with the guidelines-based approach. CONCLUSIONS: In comparison with the current standard of care, this risk prediction model for LTVTA in laminopathies significantly facilitated the choice of candidates for implantable cardioverter defibrillators. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov. Unique identifier: NCT03058185.

Evaluation of Left Main Coronary Artery Using Optical Frequency Domain Imaging and Its Pitfalls.

OBJECTIVES: We aimed to assess the quality of optical frequency domain imaging (OFDI) of the left main (LM) arterial wall and describe and analyse potential artefacts in this setting. BACKGROUND: OFDI is increasingly used to assess ambiguous lesions and optimize LM percutaneous coronary intervention. However, its ability to provide artefact-free high-quality images of coronary ostia and large segments such as the LM remains uncertain. METHODS: We included 42 consecutive patients who underwent OFDI, including LM imaging. Each OFDI frame was subdivided into four quadrants and analysed. The number of quadrants with artifacts was calculated within the proximal, mid, and distal LM and the first 5 mm of the left anterior descending artery (LAD) and/or left circumflex artery (LCX). RESULTS: The quadrants analysis showed an overall artifact rate of 8.9%, mostly out-of-field (45.1%) or residual blood (44.7%) artefacts. Most artifacts were located in the proximal LM (18.6%) with a stepwise reduction of artifact rates towards distal segments (mid LM 5.8%; distal LM 3.6%, ostial LAD 2.6%, and ostial LCX 0%; p < 0.001). While 20 (48.8%) patients had angiographically visible plaques, OFDI showed plaques in 32 patients (76.2%; p=0.007). CONCLUSION: OFDI can accurately evaluate the LM and detect and assess angiographically unvisualized atherosclerotic plaques providing accurate assessment of >90% of the quadrants of the LM and the ostia of its bifurcation branches. However, artifacts mainly located in the proximal LM and decreasing distally in a stepwise fashion should be considered in the interpretation of OFDI in this setting.

Direct measurement of cardiac stiffness using echocardiographic shearwave imaging during open-chest surgery: A pilot study in human.

PURPOSE: Cardiac stiffness is a marker of diastolic function with a strong prognostic significance in many heart diseases that is not measurable in clinical practice. This study investigates whether elastometry, a surrogate for organ stiffness, is measurable in the heart using ShearWave Imaging. METHODS: In 33 anesthetized patients scheduled for cardiac surgery, ShearWave imaging was acquired epicardially using a dedicated ultrasound machine on the left ventricle parallel to the left anterior descending coronary artery in a loaded heart following the last cardiac beat. Cardiac elastometry was measured offline using the Young modulus with customized software. RESULTS: Overall, the ejection fraction was 61 ± 10%. E/A and E/e' ratios were 1.0 ± 0.5 and 10.5 ± 4.1, respectively. Cardiac elastometry averaged 15.3 ± 5.3 kPa with a median of 18 kPa. Patients with high elastometry >18 kPa were older (P = .04), had thicker (P = .02) but smaller LV (P = .004), had larger left atria (P = .05) and a higher BNP level (P = .04). We distinguished three different transmural elastometry patterns: higher epicardial, higher endocardial, or uniformly distributed elastometry. CONCLUSION: Elastometry measurement was feasible for the human heart. This surrogate for cardiac stiffness dichotomized patients with low and high elastometry, and provided three different phenotypes of transmural elastometry with link to diastolic function.

Right Ventricular Strain Impairment in Adults and Adolescents with Repaired Aortic Coarctation.

This study examines the function of the right ventricle (RV) using two-dimensional (2D) strain analysis after aortic coarctation (CoA) repair, as well as relationships between potential RV strain abnormalities and patient characteristics. The study examined 39 patients (61% male, age 32 ± 16 years) with CoA repair (33 post end-to-end anastomosis/sub-clavian flap, 6 post stenting/bypass/Teflon patch) and 42 controls. The structure and function of the left ventricle (LV), left atrium (LA), and RV were assessed using 2D standard echocardiography, tissue Doppler imaging, and 2D strain imaging. The characteristics examined included global RV longitudinal strain (RV-GLS), global LV longitudinal strain (LV-GLS), and LA longitudinal strain (LA strain). RV dysfunction was defined by RV-GLS lower than the mean minus 2 standard deviations (SDs) of the control group value. LV mass and mitral E/Ea were significantly higher in the CoA group. Septal Ea, LV-GLS, and LA strain were significantly lower in the CoA group. RV dysfunction (RV-GLS > - 16%) was present in 10 (25.6%) CoA patients. RV-GLS was correlated with lateral Ea, LV-GLS, and LA strain (r = - 0.35, p = 0.02; r = - 0.54, p < 0.001; and r = - 0.44, p = 0.005, respectively). Patients who had a stenting/bypass/Teflon patch as the first initial repair exhibited significantly lower RV-GLS. RV systolic strain abnormalities may occur in patients late after CoA repair. RV strain was correlated with parameters of LV dysfunction. Further large-scale studies are required to confirm these findings and to determine the mechanisms and prognostic implications of RV strain in such patients.

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

AIMS: To describe the incidence and identify predictors of sudden death (SD), major conduction defects and sustained ventricular tachyarrhythmias (VTA) in myotonic dystrophy type 1 (DM1). METHODS AND RESULTS: We retrospectively enrolled 1388 adults with DM1 referred to six French medical centres between January 2000 and October 2013. We confirmed their vital status, classified all deaths, and determined the incidence of major conduction defects requiring permanent pacing and sustained VTA. We searched for predictors of overall survival, SD, major conduction defects, and sustained VTA by Cox regression analysis. Over a median 10-year follow-up, 253 (18.2%) patients died, 39 (3.6%) suddenly. Analysis of the cardiac rhythm at the time of the 39 SD revealed sustained VTA in 9, asystole in 5, complete atrioventricular block in 1 and electromechanical dissociation in two patients. Non-cardiac causes were identified in the five patients with SD who underwent autopsies. Major conduction defects developed in 143 (19.3%) and sustained VTA in 26 (2.3%) patients. By Cox regression analysis, age, family history of SD and left bundle branch block were independent predictors of SD, while age, male sex, electrocardiographic conduction abnormalities, syncope, and atrial fibrillation were independent predictors of major conduction defects; non-sustained VTA was the only predictor of sustained VTA. CONCLUSIONS: SD was a frequent mode of death in DM1, with multiple mechanisms involved. Major conduction defects were by far more frequent than sustained VTA, whose only independent predictor was a personal history of non-sustained VTA. ClinicalTrials.gov no: NCT01136330.

Delayed spontaneous perforation of polyvinyl alcohol membrane-Covered atrial septal defect closure devices.

Percutaneous device closure has become the first choice for secundum atrial septal defect (ASD) closure when feasible in case of favorable anatomy. The Ultrasept II ASD occluder® device (Cardia Inc, Eagan, MN) is made of two nitinol disc frames covered with polyvinyl alcohol membranes, a synthetic polymer with a large application in the biomedical field. Four relatively early malfunctions of the polyvinyl alcohol membrane were observed in a series of six consecutive patients treated with ASD Ultrasept II closure device in our institution. Operators have to be aware of this apparently rare complication that is likely to be underestimated, associated with such devices. © 2016 Wiley Periodicals, Inc.

Loss of base-to-apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?

INTRODUCTION AND OBJECTIVES: Cardiac manifestations in Fabry disease are mainly characterized by left ventricular hypertrophy (LVH). The aims of this study were (1) to describe the pattern of regional strain in patients with Fabry disease and (2) to assess whether this pattern may help differentiate patients with Fabry disease from patients with sarcomeric hypertrophic cardiomyopathy (HCM). METHODS: Seventy-seven subjects were investigated: patients with Fabry disease (n=37; 57% with LVH), patients with HCM (n=21), and healthy controls (n=19). Global and segmental longitudinal and circumferential strain (CS) analyses were performed by two-dimensional speckle strain imaging. Base-to-apex longitudinal and CS gradient, defined as the peak gradient difference between averaged basal and apical strain, was calculated. RESULTS: Longitudinal strain gradient did not differ between controls and Fabry patients without hypertrophy (respectively: -10±3.2 vs -8±4.3, P=.41) or between the HCM group and Fabry patients with hypertrophy (respectively: -7.5±4.5 vs -9±4.5, P=.37). The CS gradient was lower in Fabry patients without hypertrophy compared to the controls (respectively: 1±8 vs 14.2±9.5, P<.01), and lower in Fabry patients with hypertrophy compared to the HCM group (respectively: 0.5±8 vs 6±9, P<.01). Base-to-apex CS gradient was lost in both Fabry groups. CONCLUSION: Loss of base-to-apex CS gradient may be a specific left ventricular deformation pattern of Fabry cardiomyopathy in patients with and without LVH.

Heart Transplantation as Last Resort Treatment for Relapsing Polychondritis With Severe Cardiac Involvement.

Relapsing polychondritis is a rare multisystem autoimmune disease characterized by recurrent inflammation and destruction of different cartilaginous and proteoglycan-rich structures like cardiovascular system. We reported a case of heart transplantation in a 20-year-old man having a relapsing polychondritis with severe multiple cardiovascular involvement. The immunosuppressive treatment used to prevent graft rejection allowed to turn out the inflammatory disease. Cardiac transplantation may be considered as last resort treatment option in relapsing polychondritis with intractable extensive heart lesions.

Status and potential clinical value of a transthoracic evaluation of the coronary arteries.

The growing need for coronary evaluation has raised interest in non-radioactive, non-invasive monitoring systems. In particular, radiation exposure during coronary investigations has been shown to be a possible cause of an enhanced risk of secondary tumors. Literature search has indicated that transthoracic echocardiography (TTE) has been widely applied to coronary arteries up to 2003, following which the lack of adequate equipment and the increased availability of invasive diagnostics, has reduced interest in this low cost, low-risk technology. The more recent availability of newer, more sensitive machines, allows evaluation of a larger number of arterial trees, including the aorta in newborns, the prenatal aortic intima-media thickness, as well as the detection of coronary artery anomalies in the adult. Improved technology for this highly operator sensitive technique may thus predict a possible evolution toward the clinical diagnostics of coronary disease and, eventually, also of the progression/regression of disease. We sought to evaluate the present status of this seldom quoted non-invasive technology.

Scar extent as a predictive factor of ventricular tachycardia cycle length after myocardial infarction: implications for implantable cardioverter-defibrillator programming optimization.

AIMS: After an old myocardial infarction (MI), patients are at risk for reentrant ventricular tachycardia (VT) due to scar tissue that can be accurately identified by late gadolinium enhancement cardiac magnetic resonance (LGE-CMR). Although the ability of LGE-CMR to predict sustained VT in implantable cardioverter-defibrillator (ICD) recipients has been well established, its use to predict monomorphic VT (sustained or not) cycle length (CL) and so, optimize ICD programming has never been investigated. METHODS AND RESULTS: We included retrospectively 49 consecutive patients with an old MI who had undergone LGE-CMR before ICD implantation over a 4-year period (2006-09). Patients with amiodarone used were excluded. Scar extent was assessed by measuring scar mass, percent scar, and transmural scar extent. The endpoint was the occurrence of monomorphic VT, requiring an ICD therapy or not. The endpoint occurred in 26 patients. The median follow-up duration was 31 months. Scar extent parameters were significantly correlated with the study endpoint. With univariate regression analysis, the scar mass had the highest correlation with the VT CL (R = 0.671, P = 0.0002). Receiver-operating characteristic curve showed that scar mass can predict VT CL (area under the curve = 0.977, P < 0.0001). For a cut-off value of scar mass at 17.6 g, there is 100% specificity and 94.4% sensitivity. CONCLUSION: In this observational and retrospective study, scar mass studied by LGE-CMR was specific and sensitive to predict VT CL and so could be a promising option to improve ICD post-implantation programming and decrease appropriate and inappropriate shocks. These conclusions must now be confirmed in a large and prospective study.

Revealing the true nature of a parachute mitral valve during an ultra-trail race.

Pre-participation screening and management of congenital cardiac valvulopathy in competitive athletes can be challenging, particularly within the context of ultra-endurance disciplines. A 55-year-old female athlete without a reported history of cardiac disease exhibited clinical signs of cardiogenic pulmonary edema during a 156 km ultra-trail race. The echocardiographic assessment revealed the presence of a parachute mitral valve, with no evidence of mitral stenosis or regurgitation at rest, but it demonstrated severe dynamic mitral stenosis during exercise. In competitive athletes, the detection of rare valvulopathy should prompt a comprehensive cardiac evaluation aimed at assessing the potential for dynamic valvular dysfunction.