Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up.

BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is an extremely rare muscular dystrophy due to either emerinopathy (EMD) or laminopathy (LMNA). The main risk for patients is that of cardiovascular complications. AIMS: This study aimed to identify predictors of adverse clinical events in patients with EDMD in a long-term follow-up observation. METHODS: A total of 45 patients with confirmed EMD or LMNA mutation were included in the study. The relationships between clinical parameters, the overall survival rate, and risk factors for disease progression were assessed. The primary endpoint was defined as death, while the secondary endpoint comprised death, resuscitated cardiac arrest (RCA), heart transplant (HTX), stroke, end-stage heart failure (ESHF), and hospitalization due to heart failure (HF). RESULTS: During a median length of follow-up observation of ten years (interquartile range, 5-15), ten patients (22%) died, one suffered RCA, two had HTX, and six suffered ischemic strokes (13%). Seven patients developed ESHF, and eight were hospitalized due to HF. The secondary endpoint occurred in 16 patients (36%). LMNA mutation (hazard ratio [HR], 6.01; 95% confidence interval [CI], 1.61-22.4; P = 0.008) and higher serum N-terminal fragment of B-type natriuretic peptide (NT-proBNP) concentration (HR, 1.29; 95% CI, 1.06-1.56 per 100 pg/ml; P = 0.01) increased the risk of death. Higher tricuspid annular plane systolic excursion (TAPSE) decreased the risk for the secondary endpoint (HR, 0.78; 95% CI, 0.68-0.90 mm; P <0.001). NT-proBNP >257 pg/ml and TAPSE <21 mm may be assumed as the best cut-off values for the primary and secondary endpoints, respectively. CONCLUSIONS: LMNA mutation and higher NT-proBNP concentration were associated with increased mortality in EDMD. Lower TAPSE was a predictor of a composite secondary endpoint in EDMD.

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study.

INTRODUCTION: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. PATIENTS AND METHODS: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. RESULTS: At the end of 11 (5.0-16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p < 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +/- 10.6 vs. 25.1 +/- 9.1, p = 0.03). CONCLUSIONS: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD/LMNA mutations; however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group.

Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy.

BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare type of muscular dystrophy characterized by musculoskeletal abnormalities accompanied by cardiac defects. Two most common genetic subtypes are EDMD1 due to EMD and EDMD2 caused by LMNA gene mutations. The aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD with the use of echocardiography. METHODS: 41 patients with EDMD (29 EDMD1 and 12 EDMD2) as well as 25 healthy controls were enrolled in our study. Transthoracic echo with the use of a prescribed protocol was performed. RESULTS: Highly statistically significant differences with regard to left ventricle (LV) volumes between the EDMD and the control group were found. 51% of EDMD patients had an enlarged left atrium and as many as 71% had an enlarged right atrium. The LV ejection fraction (LVEF) was significantly lower in EDMD patients than in the control group which corresponded also with a lower systolic velocity of the mitral annulus. 43% of EDMD patients had LVEF below the normal limit. Diastolic dysfunction was detected in 17% of EDMD patients. There were no significant differences between the two types of EDMD in terms of diameters and volumes of any chamber, as well as the systolic function of both left and right ventricles. CONCLUSIONS: A significant number of EDMD patients present LV dilatation and different degrees of systolic dysfunction. Dilatation of the atria dominates over ventricle dilatation. We did not present any significant differences between EDMD1 and EDMD2 in terms of the morphology and the function of the heart.

Echocardiographic assessment of tricuspid regurgitation and pericardial effusion after cardiac device implantation.

BACKGROUND: The frequency of cardiac implantable electronic device (CIED) implantations is constantly increasing. Pericardial effusion (PE) and tricuspid regurgitation (TR) may occur after CIED implantation. The aim of the present study is to evaluate the prevalence and risk factors for new occurrences or progression of TR and PE early after CIED implantation. METHODS: This is an on-going, single-center, observational study of patients after their first CIED implantation, with an echocardiographic evaluation within 60 days before and 7 days after the procedure. Data are presented for first 110 consecutive patients who underwent CIED implantation from August 2015 to July 2016. RESULTS: Median age was 75 years, and 44% were women. In total, 87 (79%) pacemakers, 21 (19%) implantable cardioverter-defibrillators and 2 cardiac resynchronization therapy devices were implanted. After CIED implantation, there was TR progression in 17 (16%) patients: 5 patients developed moderate TR, none developed severe TR. An increase in TR was more often observed after implantations performed by operators in training than by certified operators (35% vs. 12%, p = 0.02). New PE after the procedure was observed in 8 (7%) patients and was trivial ( < 5 mm) in all cases. Patients with new PE after implantation had lower baseline hemoglobin levels and tended to be women. CONCLUSIONS: New PE and an increase in TR severity are rare complications early after CIED implantation. Operator experience might be related to TR progression. Increasing the number of patients in the current on-going study will allow a more reliable assessment of the prevalence and risk factors of these complications.

Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies.

Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling.

[Radiographic implications of procedures involving cardiac implantable electronic devices (CIEDs) - Selected aspects]. / Implikacje radiologiczne zabiegów stalej elektroterapii serca (CIED) ­ wybrane aspekty.

BACKGROUND: Some cardiac implantable electronic device (CIED) implantation procedures require the use of X-rays, which is reflected by such parameters as total fluoroscopy time (TFT) and dose-area product (DAP - defined as the absorbed dose multiplied by the area irradiated). MATERIAL AND METHODS: This retrospective study evaluated 522 CIED implantation (424 de novo and 98 device upgrade and new lead placement) procedures in 176 women and 346 men (mean age 75±11 years) over the period 2012-2015. The recorded procedure-related parameters TFT and DAP were evaluated in the subgroups specified below. The group of 424 de novo procedures included 203 pacemaker (PM) and 171 implantable cardioverter-defibrillator (ICD) implantation procedures, separately stratified by single-chamber and dual-chamber systems. Another subgroup of de novo procedures involved 50 cardiac resynchronization therapy (CRT) devices. The evaluated parameters in the group of 98 upgrade procedures were compared between 2 subgroups: CRT only and combined PM and ICD implantation procedures. RESULTS: We observed differences in TFT and DAP values between procedure types, with PM-related procedures showing the lowest, ICD - intermediate (with values for single-chamber considerably lower than those for dual-chamber systems) and CRT implantation procedures - highest X-ray exposure. Upgrades to CRT were associated with 4 times higher TFT and DAP values in comparison to those during other upgrade procedures. Cardiac resynchronization therapy de novo implantation procedures and upgrades to CRT showed similar mean values of these evaluated parameters. CONCLUSIONS: Total fluoroscopy time and DAP values correlated progressively with CIED implantation procedure complexity, with CRT-related procedures showing the highest values of both parameters. Med Pr 2017;68(3):363-374.

Reversible complete atrioventricular block in patient with wegener's granulomatosis - a report on fortunate outcome with long term follow-up.

Reversible complete atrioventricular block in patient with Wegener's granulomatosis - a report on a positive outcome with long term follow-up. Atrioventricular (AV) block is a rare complication of Wegener's granulomatosis (WG), thus there are no standards of management in such cases. We present a case of a patient with a dual-chamber pacemaker (DDD) implanted due to complete AV block in the course of Wegener's granulomatosis (WG). An immunosuppressive therapy resulted in the resolution of non-cardiac and AV conduction disorders. The diagnostic functions of the pacemaker enabled us to evaluate AV conduction over a five-year follow-up period. The resolution of AV conduction disorders, which accompanied WG remission, suggests that careful monitoring with temporary cardiac pacing may be considered in some patients before permanent pacemaker implantation.

The prevalence of superior vena cava anomalies as detected in cardiac implantable electronic device recipients at a tertiary cardiology centre over a 12-year period.

INTRODUCTION: The vast majority of cardiac implantable electronic device (CIED) recipients require transvenous lead insertion, which may be hindered by the presence of venous anomalies. The aim of this study was to determine the prevalence and variations of persistent left superior vena cava (PLSVC) and to conduct subsequent outpatient follow-up in terms of device function and the clinical condition of the recipients using data from CIED placement procedures conducted over a 12-year period. METHODS: The study population included patients undergoing first-time transvenous implantation of cardiac pacemakers and implantable cardioverter-defibrillators (ICDs). The presence of PLSVC was determined based on intra-procedure venography. Outpatient follow-up involved assessments of patient condition, radiological imaging, and CIED function. RESULTS: Of a total of 4708 CIED recipients, PLSVC was detected in eight patients (mean age 65.5±13.9); five of them had double superior vena cava (DSVC), including three cases in which the vessels were bridged with a brachiocephalic vein (BCV). Three patients presented PLSVC associated with the absence of the right superior vena cava (RSVC), a very rare anomaly. Seven patients remain under observation, for a total of 78.4±48.4 months of follow-up. CONCLUSIONS: The rate of venous anomalies in the form of PLSVC detected in the evaluated population was 0.17%. These PLSVC cases were asymptomatic, which hindered their earlier detection. The presence of these anomalies made the procedures more challenging for the operator and increased the perioperative complication rates; however, neither patient condition nor CIED function was affected based on the long-term outpatient follow-up.

Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up.

BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition associated with cardiac arrhythmias. The patients typically develop early, asymptomatic bradyarrhythmia, which may lead to sudden death, preventable with a cardiac implantable electronic device (CIED). EDMD may be characterised by atrial electrical silence. Intra-operative electrophysiological evaluation of the myocardium helps ultimately determine the true nature of the disorder and select an appropriate CIED. AIM: To analyse permanent electrotherapy procedures in EDMD patients: atrial pacing limitations that stem from the electrophysiological properties of the myocardium and long-term follow-up of implanted devices. METHODS: A total of 21 EDMD patients (mean age 29 ± 9 years) with a CIED implanted (1976-2014) due to bradyarrhythmia were included in the study. The implantation procedures and factors determining the CIED type selection were analysed. RESULTS: CIEDs were implanted in five women and in 16 men with EDMD types 1 and 2 (mean follow-up: 11 ± 8 years). Intra-operatively assessed atrial electrophysiology resulted in changing the planned CIED type during the procedure in three men with EDMD type 1. Eventually, we implanted: eight DDD, one VDD, 11 VVI, and one CD-DR device, with four of the patients' devices switched later from DDD to VVI mode in response to electrophysiological changes in the atria. CONCLUSIONS: Intra-operative assessment of atrial electrophysiological properties resulted in changing the planned DDD mode for VVI in 19% of patients with EDMD type 1. Progression of the underlying disease over a 39-year follow-up resulted in a later change of the initially selected pacing mode from DDD to VVI in 40% of cases.

Reversible complete atrioventricular block in patient with wegener's granulomatosis - a report on fortunate outcome with long term follow-up.

Reversible complete atrioventricular block in patient with Wegener's granulomatosis - a report on a positive outcome with long term follow-up. Atrioventricular (AV) block is a rare complication of Wegener's granulomatosis (WG), thus there are no standards of management in such cases. We present a case of a patient with a dual-chamber pacemaker (DDD) implanted due to complete AV block in the course of Wegener's granulomatosis (WG). An immunosuppressive therapy resulted in the resolution of non-cardiac and AV conduction disorders. The diagnostic functions of the pacemaker enabled us to evaluate AV conduction over a five-year follow-up period. The resolution of AV conduction disorders, which accompanied WG remission, suggests that careful monitoring with temporary cardiac pacing may be considered in some patients before permanent pacemaker implantation.

[Atrial mechanical and electrical dysfunction in patient with Emery-Dreifuss muscular dystrophy reason of change in electrotherapeutical approach: frequent result of rare disease]. / Elektryczna i mechaniczna dysfunkcja przedsionków u pacjenta z dystrofia miesniowa Emery-Dreifussa przyczyna zmiany wyboru optymalnej formy elektroterapii: czeste powiklanie rzadkiej choroby.

We present a case of a 35 year-old male patient with Emery-Dreifuss muscular dystrophy diagnosed in the age of 12 who was assigned to dual chamber pacing system due to bradycardia primarily recognised as sinus node insufficiency with the atrio-ventricular nodal rhythm. During the procedure permanent electrical atrial stand-still without atrial capture were detected and the mode of stimulation was change to VVIR.

[Iatrogenic left lateral thoracic artery injury during pacemaker implantation successfully treated with stentgraft implantation]. / Jatrogenne uszkodzenie tetnicy piersiowej bocznej lewej podczas zabiegu implantacji stymulatora serca skutecznie leczone implantacja stentgraftu.

Left lateral thoracic artery iatrogenic injury is a rare complication during pacemaker implantation procedure. We present a case, where this complication occurred and was followed with massive tissue and pleural haemorrhage. The injury was successfully sealed with stentgraft device without any complications.

[Paget-Schroetter syndrome as an unexpected and uncommon aspect of pacemaker implantation: a case report]. / Zespól Paget-von Schroetter'a nieoczekiwany i niekiedy trudny aspekt zabiegów wszczepiania droga przezzylna ukladów do stalej stymulacji serca--opis przypadku.

We present the rare case of Paget-Schroetter syndrome as an idiopathic and asymptomatic left subclavian vein thrombosis, which was diagnosed during the procedure of pacemaker implantation. Intracardiac lead was successfully implanted through the opposite vessel.