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).
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.
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.
Reply Meune, Christophe; Duboc, Denis
Journal of the American College of Cardiology,
11/2005, Letnik:
46, Številka:
9
Journal Article
Recenzirano
...this trial investigated a preventive effect very early in the course of Duchenne disease (mean age of children 10.6 years with normal left ventricular ejection fraction LVEF); as a consequence, ...LVEF was preserved at 36 months.
Summary Background In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear. Aims To study the potential ...role of Brugada syndrome in ventricular tachyarrhythmias and sudden death in DM1 patients. Methods We screened 914 adult patients included in the DM1 Heart Registry during 2000–2009 for the presence of type 1 Brugada pattern on electrocardiogram (ECG). We also performed direct sequencing of SCN5A in patients with Brugada pattern. Further, we analysed SCN5A splicing on ventricular myocardial specimens harvested during cardiac transplantation in a 45-year-old patient with DM1 and three controls with inherited dilated cardiomyopathy. Results A type 1 Brugada pattern was present on the ECG of seven of 914 patients (0.8%), including five with a history of sustained ventricular tachyarrhythmia or sudden death, who fulfilled the criteria for Brugada syndrome. SCN5A sequencing was normal in all patients. Ventricular myocardial specimen analysis displayed abnormal splicing of SCN5A exon 6, characterized by over-expression of the ‘neonatal’ isoform, called exon 6A, in the patient with DM1, but not from the controls. Conclusion Our findings suggest a potential implication of Brugada syndrome in sudden death in DM1, which may be related to missplicing of SCN5A. Our findings provide a new insight into the pathophysiology of heart disease in DM1. ClinicalTrials.gov Number NCT01136330.
Cardiac tachyarrhythmias have rarely been studied in young patients with myotonic dystrophy type 1 (DM1). The authors observed major cardiac rhythm disturbances in 11 patients aged 10 to 18 years. ...Tachyarrhythmic events were more frequent than impulse conduction disorders. Wide variations in CTG expansion were observed among the population. Since physical exercise was a prominent arrhythmogenic factor, systematic exercise tests with EKG monitoring may be indicated in young patients with DM1.
Abstract In contrast with Steinert’s disease (DM1), type 2 muscular dystrophy (DM2) is not known to be associated with a high prevalence of cardiac involvement. Our objective was to compare the ...results of detailed cardiac investigations in populations of DM2 and DM1 patients, and in controls. Thirty-eight DM2 patients (17 males; age = 57.1 ± 15.2 years) were investigated for possible heart involvement, and their results compared with 76 age–sex matched DM1 patients and 76 controls. Cardiac abnormalities were present in 15 DM2 patients, including conductive defects in 14, systolic dysfunction in 6, supraventricular arrhythmias in 6 and stroke in 5 patients and were significantly more frequent than in controls. When compared to DM1 patients, conductive defects were less frequent, supraventricular arrhythmias had similar prevalence and there was a trend towards more frequent left ventricular dysfunction in DM2 patients. Our study suggests that systematic cardiac investigations should be recommended in these patients.
Summary Background Hospitalization for worsening/acute heart failure is increasing in France, and limited data are available on referral/discharge modalities. Aim To evaluate patients’ journeys ...before and after hospitalization for this condition. Methods On 1 day per week, between October 2014 and February 2015, this observational study enrolled 260 consecutive patients with acute/worsening heart failure in all 10 departments of cardiology and four of the departments of geriatrics in the Greater Paris University Hospitals. Results First medical contact was an emergency unit in 45% of cases, a general practitioner in 16% of cases, an emergency medical ambulance in 13% of cases and a cardiologist in 13% of cases; 78% of patients were admitted directly after first medical contact. In-hospital stay was 13.2 ± 11.3 days; intensive care unit stay (38% of the population) was 6.4 ± 5 days. In-hospital mortality was 2.7%. Overall, 63% of patients were discharged home, whereas 21% were transferred to rehabilitation units. A post-discharge outpatient visit was made by only 72% of patients within 3 months (after a mean of 45 ± 28 days). Only 53% of outpatient appointments were with a cardiologist. Conclusion Emergency departments, ambulances and general practitioners are the main points of entry before hospitalization for acute/worsening heart failure. Home discharge occurs in two of three cases. Time to first patient post-discharge visit is delayed. Therefore, actions to improve the patient journey should target primary care physicians and emergency structures, and efforts should be made to reduce the time to the first visit after discharge.
To examine the diagnostic contributions of cardiac magnetic resonance imaging (CMRI) with delayed-enhancement (DE) in patients with Churg-Strauss syndrome (CSS).
We consecutively recruited 14 men and ...6 women (mean age: 50+/-14 years) with CSS (mean disease duration: 4.5+/-3.6 years) and investigated them independently of the presence/absence of cardiac manifestations. Cardiac manifestations included heart failure in 6 patients, angina pectoris in 1, isolated ECG abnormality in 1, and isolated echocardiography and ECG abnormalities in 1. T1-weighted sequences were recorded after gadolinium injection to study myocardial DE.
CMRI abnormalities were found in 13/20 patients, including all 9 patients with myocardial manifestations, and 4 of the 11 asymptomatic patients. DE was centromyocardial in 6 patients, subepicardial in 4, and subendocardial in 3. Most enhanced lesions were in the anteroseptal or lateral walls. Patients with myocardial symptoms and DE had higher transmyocardial wall DE scores (mean: 9.4 vs. 3.7, respectively; p=0.01) and lower left ventricular ejection fractions (mean: 42% vs. 59%; p=0.001) than asymptomatic patients with DE.
CMRI with DE enabled the detection of myocardial involvement in CSS patients with or without clinical symptoms. The clinical relevance of CMRI abnormalities in patients without clinical, echocardiographic and ECG signs of cardiac involvement remains unknown and needs to be evaluated in future studies. It seems premature to intensify treatment or to prescribe systematically steroids and cytotoxic agents based on the presence of isolated CMRI anomalies.
The latest practice guidelines from the American College of Cardiology/American Heart Association recommend the prescription of an ACE-i for patients presenting with non-ischemic cardiomyopathy when ...left ventricular ejection fraction (LVEF) falls below 40%.
To determine if the initiation of treatment with an angiotensin-converting enzyme inhibitor (ACE-i) earlier than recommended by practice guidelines issued by professional societies improves the long-term cardiac outcomes of patients presenting with Becker muscular dystrophy (MD) cardiomyopathy.
From a multicenter registry of Becker MD, we selected retrospectively patients presenting between January 1990 and April 2019 with a LVEF ≥40 and ≤49%. We used a propensity score analysis to compare the risk of a) hospitalization for management of heart failure (HF), and b) a decrease in LVEF to <35% in patients who received an ACE-i when LVEF fell below 40% (conventional treatment), versus below 50% (early treatment).
From the 183 patients entered in our registry, we identified 85 whose LVEF was between 40 and 49%, 51 of whom received early and 34 received conventional ACE-i treatment. Among patients with early versus conventional treatments, 2 (3.9%) versus 4 (11.8%) were hospitalized for management of HF hazard ratio (HR) 0.151; 95% confidence interval (CI) 0.028 to 0.822; p = 0.029, and 9 (17.6%) versus 10 (29.4%) had a decrease in LVEF below 35% (HR 0.290; 95% CI 0.121 to 0.694; p = 0.005).
The long-term cardiac outcome of patients presenting with Becker MD was significantly better when treatment with ACE-i was introduced after a decrease in LVEF below 50%, instead of below 40% as recommended in the current practice guidelines issued by professional societies.
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