natriuretic-peptide--brain and Myotonic-Dystrophy

The aim of the present study was to evaluate the role of high-sensitivity cardiac troponin I, N terminal pro-B-type natriuretic peptide (NT-proBNP), creatine kinase-MB mass concentration (CK-MB mass) and copeptin (CP) in predicting incident atrial fibrillation (AF) in myotonic dystrophy type 1 (DM1) patients.. The study enrolled 60 consecutive DM1 patients (age 50.3 ± 7.3 years, 34 male) who underwent pacemaker (PM) implantation for cardiac rhythm abnormalities and 60 PM recipients whose age and sex matched served as control group. All DM1 patients underwent a 12-lead electrocardiogram, 2D color Doppler echocardiogram, biomarkers measurements and device interrogation at implantation, 1 month after and every 6 months thereafter for a minimum of 2-year follow-up.. The study population was divided into two groups according to the presence of AF (AF group vs non-AF group). The AF group was older (47.3 ± 8 vs 38.6 ± 7 years, P = .03) and showed higher serum levels of NT-proBNP (151 ± 38.4 vs 107.3 ± 24.2 pg/mL, P < .001) and CP (18.9 ± 4.5 vs 7 ± 2.3 P < .001) than non-AF Group. NT-proBNP (P < .001) and CP (P < .001) were found to be an independent predictor of AF. Based on the receiver-operating characteristics curve analysis, the cut-off value for NT-proBNP that best predicted AF event in DM1 patients was 123 pg/ml (sensitivity of 83.3% and specificity of 86.5%); the cut-off value for CP that best predicted AF event in DM1 patients was 9 pmol/L (sensitivity of 89% and specificity of 87%).. NT-proBNP and CP represent two independent predictors of AF onset in DM1 population with conduction disturbances underwent PM implantation.

Topics: Adult; Atrial Fibrillation; Biomarkers; Case-Control Studies; Creatine Kinase, MB Form; Female; Glycopeptides; Humans; Incidence; Italy; Male; Middle Aged; Myotonic Dystrophy; Natriuretic Peptide, Brain; Peptide Fragments; Predictive Value of Tests; Prospective Studies; Risk Assessment; Risk Factors; Troponin I

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population.. Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP. Left ventricular (LV) ejection fraction (EF) was assessed by echocardiography.. Genetic analysis revealed that 46 of the 60 patients were DM1, and 14 DM2. Blood measurements showed persistent elevation of hs-cTnT and CK in 55/60 DM patients (91.73%). In contrast, hs-cTnI values were persistently normal throughout the study. Only 2 patients showed an EF <50%, being the overall range of this population between 40% and 79%. We found ECG abnormalities in 19 patients. Of these patients, 13 showed first or second-degree atrio ventricular (AV) blocks (PR interval ≥ 200 ms), 4 showed a left bundle branch block (LBBB) prolonged (QRS duration ≥120 ms), and 2 had an incomplete bundle branch block (QRS duration between 110 and 119 ms). After excluding patients with EF <50%, NT-pro-BNP measurement > 125 pg/mL was an independent predictor of ECG abnormalities.. NT-pro-BNP levels may be considered to be used clinically to identify DM patients at increased risk of developing myocardial conduction abnormalities.

Topics: Adolescent; Adult; Aged; Alleles; Biomarkers; Child; Cohort Studies; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Electrocardiography; Female; Heart Diseases; Humans; Male; Middle Aged; Myotonic Dystrophy; Natriuretic Peptide, Brain; Outpatients; Peptide Fragments; Prognosis; Protein Domains; Registries; Regression Analysis; Troponin I; Troponin T; Young Adult

Cardiac disease accounts for a large burden of premature mortality and morbidity in patients with type 1 myotonic dystrophy (MD). However, little is known about structural cardiac abnormalities particularly in asymptomatic patients with MD. We sought to describe the prevalence and extent of structural cardiac abnormalities in patients with MD and to assess their association with functional, electrical, biochemical and genetic disturbances.. In this case-control study, 40 adults with MD who had no contraindications to cardiac MRI (CMR) were identified from the Grampian region genetic database. Forty-one age-and-gender-matched healthy volunteers were also recruited. All subjects underwent detailed assessment including CMR, echocardiography, electrocardiography, signal-averaged electrocardiography, Holter monitoring and quantification of serum B-type natriuretic peptide (BNP). Genetic testing of patients with MD was performed with quantification of CTG trinucleotide repeat sequences. Results of clinical, electrical, genetic and biochemical investigations were correlated with cardiac structural and functional abnormalities detected on CMR.. Electrical disturbances including prolongation of PR (187±29 vs 156±23 ms, p<0.001) and QRS intervals (99±11 vs 89±9 ms, p<0.001) were the most prevalent abnormality. Patients with MD had a significantly lower left ventricular (LV) mass (142±44 vs 172±73 g, p=0.03) and lower right ventricular (RV) ejection fraction (46±9 vs 50±7%, p=0.02) compared with controls, although LV ejection fraction was similar between the groups (58±8 vs 59±6%, p=0.34). LV non-compaction was also significantly more prevalent in the MD cohort (35% vs 12%, p=0.019). Late gadolinium enhancement was present in 13% of patients with MD. Muscular disability scores correlated with electrical changes (r=0.529, p<0.001); however, the number of CTG repeat sequences did not correlate with either electrical or structural abnormalities.. Patients with MD have a high prevalence of both electrical and structural abnormalities. These include reduced LV mass, impaired RV contractility, a high prevalence of LV non-compaction and myocardial fibrosis. These findings illustrate the potential utility of CMR detecting subclinical disease in otherwise asymptomatic patients with MD.

Topics: Action Potentials; Adult; Arrhythmias, Cardiac; Asymptomatic Diseases; Biomarkers; Cardiomyopathies; Case-Control Studies; Echocardiography, Doppler; Electrocardiography, Ambulatory; Female; Fibrosis; Heart Conduction System; Heart Rate; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myocardium; Myotonic Dystrophy; Natriuretic Peptide, Brain; Prevalence; Prognosis; Risk Factors; Scotland; Stroke Volume; Ventricular Dysfunction, Right; Ventricular Function, Left; Ventricular Function, Right; Ventricular Remodeling