Ventricular tachycardia in patients with type 1 myotonic dystrophy: a case series

Abstract

Background Type 1 myotonic dystrophy (DM1) is associated with a variety of cardiac conduction abnormalities and the frequent need for permanent pacing. However, the role of ventricular tachycardia (VT) and the implied risk of sudden cardiac death (SCD) is poorly understood. Case summary This study examined a 56-patient DM1 cohort of men and women, and identified five patients (two females and three males) with ventricular arrhythmias (8.9%). Patients were reviewed on a case-by-case basis, with their clinical presentation and management of VT and the associated cardiomyopathy indicated. Patient cardiac function was determined by 12-lead electrocardiogram, 48-h Holter monitor, and transthoracic echocardiography. These patients were therefore suitable candidates for implantable cardioverter-defibrillator implantation and received these devices; four of the five patients also received cardiac resynchronization therapy. Medical therapies included angiotensin converting enzyme inhibition, mineralocorticoid receptor antagonist, and following device implantation, beta-blocker therapy was initiated. Discussion Our case series demonstrates the prevalence of VT in patients with DM1 highlighting the associated risks of SCD in this patient population. The burden of ventricular arrhythmias, advanced conduction disease, and cardiomyopathy are best treated with a combination of device and medical therapies.

Gender effect on cardiac involvement in myotonic dystrophy type 1

“…A total of six articles (four for CCAs, three for CRAs, and four for SCD) satisfied the criteria to be included in the metanalysis [12,13,18,23–25]. Out of 2047 DM1 patients reported (985 males, 1062 females), 430 men and 371 women presented a CCA (OR = 1.48; 95% CI = 1.23–1.77; Z test for overall effect = 4.24, p < 0.0001).…”

Clinical utility of 12‐lead electrocardiogram in evaluating heart disease in patients with muscular dystrophy: Assessment of left ventricular hypertrophy, conduction disease, and cardiomyopathy

“…(Nikhanj, Yogasundaram, et al, 2020 ) Patients with DM1 were distinguishable given their high prevalence of conduction disease and incidence of arrhythmias, as shown in previous research. (Benhayon et al, 2015 ; Nikhanj, Miskew‐Nichols, Sivakumaran, et al, 2019 ; Nikhanj, Sivakumaran, Yogasundaram, et al, 2019 ) Given that QRS interval progression has been shown to correlate with reduced LV systolic function, 40 CRT remains an important therapy to restore ventricular synchrony in the setting of LBBB, which can be supported with beta‐blocker therapies in patients with ventricular tachyarrhythmias, as we have previously investigated in patients with DM1. (Nikhanj, Sivakumaran, Yogasundaram, et al, 2019 ) The severity and progression of conduction disease in patients with DM1 correlate with age and with the quantity CTG repeats, which supports the supplementation of demographics and genetic testing into the risk stratification of patients with DM1 in addition to baseline ECG analysis.…”

“…Importantly, VT is common in patients with DMD and DM1 including the risk of sudden cardiac death, which can be mitigated through the use of prophylactic device intervention as provided to our patients. (Nikhanj, Miskew‐Nichols, Sivakumaran, et al, 2019 ; Nikhanj, Sivakumaran, Yogasundaram, et al, 2019 ; Nikhanj, Yogasundaram, et al, 2020 ).…”

“…Patients with dystrophinopathies including Duchenne muscular dystrophy (DMD) and Becker's muscular dystrophy (BMD), limb‐girdle muscular dystrophy (LGMD), type 1 myotonic dystrophy (DM1), and facioscapulohumeral muscular dystrophy (FSHD) are distinguished by their burden of heart disease. (Benhayon et al, 2015 ; Miskew Nichols et al, 2018 ; Nikhanj et al, 2019 ; Nikhanj, Yogasundaram, et al, 2020 ) 12‐lead electrocardiogram (ECG) is an accessible and practical modality for cardiac assessment. Morphology such as electrocardiogram‐indicated left ventricular hypertrophy (ECG‐LVH) defined by specific criteria has been shown to be associated with heart disease, heart failure, and adverse clinical outcomes including mortality.…”

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

“…Her facial appearance and calvities were characteristic of myotonic dystrophy type 1, and circulatory events in the ICU were also keys for diagnosis. Some reports have suggested that fatal arrhythmias, such as ventricular tachycardia and Vf, and takotsubo syndrome are often clues for the diagnosis of myotonic dystrophy type 1 [ 4 – 6 ]. Since a genetic test is the only way to diagnose myotonic dystrophy type 1, we should not hesitate to perform genetic testing when we encounter a case that has difficulty recovering from respiratory failure.…”