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AIMS To estimate the degree of cardiac involvement regarding left ventricular ejection fraction, conduction abnormalities, arrhythmia, risk of sudden cardiac death (SCD) and the associations between cardiac involvement and cytosine-thymine-guanine (CTG)-repeat, neuromuscular involvement, age and gender in patients with myotonic dystrophy type 1 (MD1). (More)
Since the initial description in 2010 of anoctamin 5 deficiency as a cause of muscular dystrophy, a handful of papers have described this disease in cases of mixed populations. We report the first large regional study and present data on new aspects of prevalence, muscular and cardiac phenotypic characteristics, and muscle protein expression. All patients(More)
AIM To assess the degree and progression of cardiac involvement in patients with limb-girdle type 2 (LGMD2) and Becker muscular dystrophies (BMD). METHODS A follow-up study of 100 LGMD2 (types A-L) and 30 BMD patients assessed by electrocardiogram (ECG) and echocardiography, supplemented by Holter-monitoring at follow-up. RESULTS After a median of(More)
Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients(More)
OBJECTIVE The aim of this study was to investigate how many blood pressure measurements are necessary in diagnosing mild to moderate hypertension. METHODS The subjects were 99 outpatients who were included on the basis of elevated diastolic (95 < or = DBP < or = 115 mmHg) and/or systolic (160 < or = SBP < or = 200 mmHg) blood pressure. After the initial(More)
AIMS Mutations in the Lamin A/C gene may cause atrioventricular block, supraventricular arrhythmias, ventricular arrhythmias (VA), and dilated cardiomyopathy. We aimed to explore the predictors and the mechanisms of VA in Lamin A/C mutation-positive subjects. METHODS AND RESULTS We included 41 Lamin A/C mutation-positive subjects. PR-interval and(More)
During exercise, ventricular arrhythmias may be observed in 50% of healthy subjects and up to 85% of patients with heart disease. For the quantitative as well as qualitative assessment of ventricular arrhythmias, continuous ECG (Holter) monitoring is superior to the Exercise ECG. Both methods together render a 10% increase in sensitivity over that achieved(More)
AIMS To quantify the association between myotonic dystrophy (DM) and cardiac disease in a nationwide cohort. METHODS AND RESULTS We identified a nationwide cohort of 1146 DM patients (period 1977-2011) using the National Patient Registry (NPR) and a subcohort of 485 patients who had undergone genetic testing for DM1. Information on incident cardiac(More)
BACKGROUND Patients with myotonic dystrophy type 1 (DM1) have a three-fold higher risk of sudden cardiac death (SCD) than age-matched healthy controls. Despite numerous attempts to define the cardiac phenotype and natural history, existing literature suffers from low power, selection-bias and lack of controls. Thus, the optimal strategy for assessing(More)