Evaluation and Management of Arrhythmic Risk in Neuromuscular Disorders
Overview
Overview
Top 10 Take-Home Messages
- Shared decision-making among patients, their families, and clinicians is essential whenever diagnostic studies or therapies, particularly those that are invasive, are being utilized or contemplated. Counseling and education may result in patients’ refusal or withdrawal of such measures if inconsistent with their goals of care, and this should be respected.
- Cardiac testing is appropriate in most patients with neuromuscular disorders (NMDs) to evaluate for cardiac involvement. The type of cardiac test and the need for and frequency of repeat testing is governed by the underlying disorder, results of previous or new studies, and the patient’s symptomatic status. It should be noted that skeletal muscle impairment may mask or confound cardiovascular symptoms, requiring heightened vigilance to cardiac involvement and modification of testing.
- Previously published guideline-based indications for cardiovascular implantable electronic device (CIED) use, including cardiac resynchronization therapy (CRT), and for management of cardiomyopathy (CM) and heart failure may be applied in patients with NMDs. For some indications, the level of evidence (LOE) and/or class of recommendation (COR) in the current document have been modified from prior guidelines to reflect the under-representation of patients with NMDs in past studies.
- A patient’s overall prognosis may be affected by the impact of their underlying neuromuscular condition. Condition-specific technical challenges including body habitus (such as kyphoscoliosis), respiratory muscle weakness and sedation-related risks may influence clinical management. These effects may dominate a patient’s clinical picture and prognosis, possibly attenuating the benefit from arrhythmia therapy, particularly CIED implantation, when compared with other patient populations.
- Patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and recessive forms of limb-girdle muscular dystrophy (LGMD) rarely develop bradyarrhythmias, but CM, heart failure, and ventricular arrhythmias (VAs) may occur with increased frequency. When indicated, CIED therapy in these patients may pose technical challenges and limited benefit, particularly in those with advanced neuromuscular impairment.
- In addition to established indications, pacemaker implantation or, in selected individuals, pacing-capable implantable cardioverter-defibrillator (ICD) placement is indicated in patients with myotonic dystrophy type 1 (DM1) or type 2 (DM2) who have evidence of abnormal atrioventricular (AV) conduction, marked by PR interval ≥240 ms, QRS duration ≥120 ms, and/or HV interval ≥70 ms, even when asymptomatic.
- Patients with Emery-Dreifuss muscular dystrophy (EDMD) or limb-girdle muscular dystrophy type 1B (LGMD1B) with abnormal AV conduction, including PR interval ≥230 ms, or HV interval ≥70 ms, are at higher risk of arrhythmic events including sudden death, even when asymptomatic. Transvenous (or equivalent pacing-capable) ICD placement is indicated in such patients.
- Patients with mitochondrial myopathies, such as Kearns-Sayre syndrome, are susceptible to developing advanced, distal conduction disease. Pacemaker implantation is indicated in these patients who demonstrate AV conduction abnormalities, particularly if progressive, including fascicular block.
- Initiation of oral anticoagulation in patients with NMDs who develop atrial fibrillation (AF) should be based on established risk criteria (e.g., CHA2DS2-VASc, HAS-BLED in adults). Individuals with EDMD or LGMD1B and AF should be treated with oral anticoagulation regardless of CHA2DS2-VASc score because of the association with atrial standstill and suspected heightened risk of thromboembolism.
- Early but limited experience with gene modification in some heritable diseases has been promising and is now being employed in patients with NMDs. The hope for additional advances must be tempered by the complexity of these therapeutics and the small number of patients with NMDs who qualify for such treatment.
General Principles for Arrhythmic Risk in NMDs
...les for Arrhythmic Risk in NMDs...
...le 1. Genetics, cardiovascular compli...
Duchenne, Becker, and Recessive Limb-girdle Muscular Dystrophies
...uchenne, Becker, and Recessive Limb-girdle Muscu...
...Recessive forms (type 2) of LGMDs associated...
...iagnostic testing and risk stratifica...
...of patients with DMD, BMD, or LGM...
...tients with DMD, BMD, or LGMD2, guideline-dire...
...DMD, BMD, or LGMD2, cardiac evalu...
...are carriers of a pathogenic or likely pathogen...
In patients with DMD, BMD, or LGMD2 who have...
...radycardias, conduction disorders, an...
...patients with DMD, BMD, or LGMD2, w...
...with DMD, BMD, or LGMD2 and third-...
...th DMD, BMD, or LGMD2 with an LVEF ≤3...
...rrhythmias in Duchenne, Becker, and recessive...
...th DMD, BMD, or LGMD2, anticoagula...
...n cardiac death, and use of ICDs in Duc...
...ents with DMD, BMD, or LGMD2 with sp...
...s with DMD, BMD, or LGMD2 with an LVEF ≤35...
...Rhythm management and CIED in patients with...
...Clinical scenarios for the management of arrhy...
...MD Clinical s...
...cenario 2 A 31-year-old man with BMD is found...
...Clini...
Myotonic Dystrophy Types 1 and 2
...Dystrophy Types 1 and 2...
...testing and risk stratification in DM1 and DM2...
...oordinated care of patients with DM1 or DM2...
...s with DM1 or DM2, cardiac evaluation inclu...
...nts with DM1 or DM2 and cardiac con...
...DM1 or DM2 with symptoms consistent with brad...
...with DM1 or DM2 with symptoms sugge...
...radycardias, conduction disorders, and...
...th DM1 or DM2 with an LVEF ≤35%, sinus rhyth...
...ts with DM1 or DM2 and documented symptom...
...th DM1 or DM2 and third-degree or ad...
...s with DM1 or DM2 and marked first-degree AV block...
...n patients with DM1 or DM2 with HV interval ≥70...
...ial arrhythmias in DM1 and DM2...
...with DM1 or DM2, anticoagulation ac...
...n cardiac death, and use of ICDs in DM1 an...
...ts with DM1 or DM2 in whom ICD therapy is plan...
...th DM1 or DM2, who are survivors o...
In patients with DM1 or DM2 and an LVEF ≤35%, d...
...ients with DM1 or DM2 in whom clinica...
...DM1 or DM2 in whom PPM implantation is i...
...m management and CIED implantation in patients...
...inical scenarios for the management of arrh...
...ver different degrees of muscle impairm...
DM1
...al scenario 1 A 63-year-old man with DM1 a...
...cal scenario 2 A 52-year-old man wi...
BMD
...al scenario 3 A 72-year-old woman with DM...
...io 4 A 68-year-old woman with D...
Emery-Dreifuss and Limb-girdle Type 1B Muscular Dystrophy
Emery-Dreifuss and Limb-girdle Type 1B Muscular D...
...testing and risk stratification in EDMD a...
...oordinated care of patients with EDMD o...
...th EDMD or LGMD1B, cardiac evaluation in...
...egree relatives of patients with genetically co...
...EDMD or LGMD1B, who have symptoms...
...h EDMD or LGMD1B with symptoms consiste...
...onduction disorders, and use of pacing...
...with EDMD or LGMD1B with an LVEF ≤...
...n patients with EDMD or LGMD1B in whom pa...
...arrhythmias in EDMD and LG...
...ts with EDMD or LGMD1B, anticoagula...
...with EDMD, anticoagulation is recommended for at...
...n cardiac death, and use of ICDs in...
...ients with EDMD or LGMD1B in whom ICD ther...
...tients with EDMD or LGMD1B who are survivors of s...
...ts with EDMD or LGMD1B with at least o...
...n patients with EDMD or LGMD1B with an...
...ients with EDMD or LGMD1B in whom c...
...tients with EDMD or LGMD1B with...
...patients with EDMD or LGMD1B with at lea...
...patients with EDMD or LGMD1B with symptomatic si...
...ythm management and CIED implantation in pati...
...cal scenarios for the management of arrhythmia...
...DMD...
...scenario 1 A 25-year-old man pre...
...ario 2 A 64-year-old man with EDMD2...
...ario 3 A 12-year-old boy with EDMD, whose fa...
...MD1B...
...ario 4 A 42-year-old woman is admitted...
...scenario 5 A 35-year-old man with L...
Facioscapulohumeral Muscular Dystrophy
...apulohumeral Muscular Dystroph...
Diagnostic testing and risk stratification in...
...th FSHD, cardiac evaluation including...
Mitochondrial Myopathies Including Friedreich Ataxia
...al Myopathies Including Friedreich Ataxia...
...ing and risk stratification in mitochondrial m...
...inated care of patients with mitochond...
...patients with mitochondrial myopathies incl...
...cardias, conduction disorders, and use of pacing o...
...n patients with mitochondrial myopathie...
...patients with mitochondrial myopathies includin...
...tients with FA with an LVEF ≤35% desp...
...with mitochondrial myopathies includ...
...arrhythmias in mitochondrial myopathies includi...
...with mitochondrial myopathies including FA,...
...sudden cardiac death, and use of IC...
...ts with mitochondrial myopathies in...
...s with mitochondrial myopathies including FA with...
...ythm management and CIED implantation in pat...
...le 6. Clinical scenarios for management of pa...
...cal scenario A 30-year-old man with...
Shared Decision-making and End-of-life Care
...cision-making and End-of-life...
..., use of pacemakers and ICDs, shared decision-maki...
...on-making and end-of-life decisions...
...patients with NMD who are considerin...
...n patients with NMD in whom the pr...
...n patients with NMD who are considering ICD re...
...ith NMD who have an ICD and are un...
...with NMD who have an ICD and are experiencing V...
...NMD who have a pacemaker or ICD and who are near...
...le 8. Clinical scenarios for end-of-lif...
...cal scenario 1 A 62-year-old w...
...scenario 2 A 39-year-old woman wit...
...io 3 A 17-year-old adolescent m...
...linical scenario 4 A 46-year-o...