Sandbox: Neuromuscular disease

Template:Neuromuscular disease AHA -2017 Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Arzu Kalayci, M.D. [2]

## AHA Scientific Statement - 2017

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## Approach to Cardiac Evaluation in Neuromuscular Diseases (NMDs)

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### Management of Cardiac Involvement Associated With Neuromuscular Diseases

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Class I

"1. NMD providers and patient organizations should promote education regarding the importance of a proactive approach to screening, diagnosis, and management of cardiovascular complications of NMDs and the ideal care team required.(Level of Evidence: B) "
"2. All neurologists diagnosing and managing NMDs should work to identify either a car- diologist with expertise in these conditions or at minimum a collaborative electrophysiologist or HF specialist, depending on the condition being evaluated.(Level of Evidence: B) "
"3. Cardiac evaluation should be performed before anesthesia or sedation in any patient with NMD at risk for cardiac involvement. For those with a history or symptoms suggestive of cardiac involvement, cardiac evaluation should be in close proximity (3–6 months) to the anesthesia/sedation event.(Level of Evidence: C) "
"4. For NMD patients believed to be at increased cardiac risk during surgery, cardiac monitoring by an anesthesiologist experienced in the care of patients with NMDs should occur during major surgery, and the procedure should take place in a center with appropri- ate intensive care facilities.(Level of Evidence: C) "
Class IIa
"1. For conditions diagnosed in childhood, refer- ral to a pediatric HF specialist, when prac- ticable, is reasonable because of evolving diagnostic and management recommendations within pediatric cardiomyopathies. (Level of Evidence: B) "

### Cardiac Evaluation in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)

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Class I

"1. All DMD and BMD patients should have an initial cardiac evaluation with examination, ECG, and imaging performed at diagnosis. (Level of Evidence: B) "
"2. Asymptomatic DMD/BMD patients with left ventricular dilation or dysfunction or arrhythmia (eg, supraventricular tachycardia, ventricular ectopy) should be reevaluated at least annually. (Level of Evidence: C) "
"3. Symptomatic DMD/BMD patients should be reevaluated more frequently than annually, with testing and frequency determined by the provider and clinical status. (Level of Evidence: C) "
"4. Female DMD/BMD carriers should undergo cardiac evaluation by examination, ECG, and noninvasive imaging in the second to third decade of life, with follow-up evaluations every 3 to 5 years thereafter. (Level of Evidence: C) "
"5. Echocardiography should be routinely used in the screening and follow-up care of DMD/ BMD patients. (Level of Evidence: B) "
Class IIa
"1. Every-2-year cardiac evaluation by examina- tion, ECG, and noninvasive imaging is rea- sonable in asymptomatic DMD/BMD patients <10 years of age, increasing to annual evalu- ation at 10 years of age. (Level of Evidence: B) "
"2. It is reasonable to consider periodic use of advanced tissue imaging modalities (eg, CMR with contrast) in the care of DMD/BMD patients for assessment of cardiac function, particularly in patients with poor acoustic windows or for assessment of myocardial fibrosis. (Level of Evidence: B) "
"3. Ambulatory electrocardiographic monitor- ing for patients with DMD/BMD is reasonable every 1 to 3 years, based on age, EF, and clinical assessment. (Level of Evidence: C) "
"4. In the absence of an implantable cardio- verter-de brillator (ICD) or other arrhythmia monitoring, at least annual ambulatory electrocardiographic monitoring is reason- able for patents with DMD/BMD with EF <35% or age ≥17 years. (Level of Evidence: B) "

### Cardiac Evaluation in Limb-girdle muscular dystrophies (LGMD)

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Class I

"1. In patients with LGMD, complete cardiac evaluation should begin at the time of diagnosis and should include examination, ECG, and echocardiography. (Level of Evidence: C) "
"1. LGMD patients with heart failure (HF) or those on HF therapy should be followed up more frequently. (Level of Evidence: C) "
Class IIa
"1. Follow-up cardiac evaluations to include examination, ECG, and echocardiography every 2 years for asymptomatic LGMD2C-F (sarcoglycanopathy) and LGMD2I patients (FKRP) with normal cardiac findings, and at least annually for those with abnormal cardiac findings, is reasonable. (Level of Evidence: C) "
"1. Follow-up cardiac evaluations to include examination, ECG, and ambulatory electro- cardiographic monitoring should be repeated every 2 years for asymptomatic LGMD1B patients with normal cardiac findings and annually for those with abnormal cardiac findings. Symptoms of palpitations, dizziness, or syncope should prompt additional investigation with ambulatory electrocardiographic monitoring, loop event electrocardiographic recording, or electrophysiology study as warranted. (Level of Evidence: C) "

### Cardiac Evaluation in Emery-Dreifuss muscular dystrophy (EDMD)

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Class I

"1. Individuals with EDMD, regardless of genotype, should be referred for cardiology assessment at the time of EDMD diagnosis, even if asymptomatic. (Level of Evidence: C) "
Class IIa
"1. At least annual evaluation with echocardio- gram, ECG, and ambulatory ECG is reason- able for patients with autosomal dominant and X-linked recessive EDMD. (Level of Evidence: C) "
"2. Annual ECG and ambulatory ECG are reason- able for autosomal recessive EDMD. (Level of Evidence: C) "

### Cardiac Evaluation in Myofibrillar Myopathies (MFM)

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Class I

"1. Cardiology evaluation with examination, ECG, echocardiogram, and ambulatory electrocardiographic monitoring should take place at the time of MFM diagnosis, regardless of symptoms. (Level of Evidence: C) "
"2. Ambulatory electrocardiographic monitoring or monitoring with a looping event recorder should be performed for assessment of symptomatic palpitations in patients with MFM. (Level of Evidence: C) "
Class IIa
"1. It is reasonable to reassess asymptomatic patients with MFM annually with examination, ECG, and echocardiography. (Level of Evidence: C) "

### Cardiac Evaluation in Barth syndrome (BTHS)

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Class I

"1. Boys should be referred to pediatric cardiol- ogy at the time of BTHS diagnosis. (Level of Evidence: B) "
"2. At least annual cardiology assessment with examination, ECG, echocardiogram, and ambulatory ECG should be performed in boys with BTHS who have evidence of cardiac dys- function or HF. (Level of Evidence: B) "
Class IIa
"1. Screening of asymptomatic infants with BTHS by examination, ECG, and echocardiogram every 6 months and ambulatory elec- trocardiographic monitoring every year is reasonable. (Level of Evidence: C) "
"2. It is reasonable to screen asymptomatic boys with BTHS with examination, ECG, echo- cardiogram, and ambulatory electrocardio- graphic monitoring annually. (Level of Evidence: C) "

### Cardiac Evaluation in Friedrich Ataxia (FA)

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Class I

"1. Cardiology evaluation with examination, ECG, echocardiogram, and ambulatory electrocardiographic monitoring should occur at the time of FA diagnosis. (Level of Evidence: C) "
"2. Asymptomatic FA patients should be followed up at least annually with examination, ECG, and echocardiogram. (Level of Evidence: C) "
"3. Symptomatic FA patients should be followed up more frequently than annually. (Level of Evidence: C) "
Class IIa
"1. Ambulatory electrocardiographic monitor- ing or monitoring with an event recorder is reasonable in FA patients with symptoms of palpitations and in those without symptoms every 1 to 4 years, increasing in frequency with increasing age. (Level of Evidence: C) "

### Cardiac Evaluation in Myotonic Dystrophy (DM)

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Class I

"1. Cardiology evaluation with examination, ECG, echocardiogram, and ambulatory electrocardiographic monitoring should occur at the time of DM diagnosis, regardless of symptoms. (Level of Evidence: C) "
"2. DM patients with palpitations, dizziness, syncope, non–sinus rhythm, PR interval >240 ms, QRS duration >120 ms, or second- or third-degree atrioventricular block should be evaluated at least annually and also considered for invasive electrophysiology study for possible pacemaker or ICD placement. (Level of Evidence: C) "
Class IIa
"1. For DM patients with normal LVEF who lack the features listed in recommendation 2, it is reasonable to reassess by examination, ECG, and ambulatory electrocardiographic monitoring annually and by echocardiogram every 2 to 4 years. (Level of Evidence: B) "
Class IIb
"1. For young DM1 patients, serial exercise stress testing and signal-averaged ECGs may be considered. (Level of Evidence: B) "

### Cardiac Evaluation in Congenital Myopathy (CM)

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Class IIa

"1. It is reasonable to perform cardiology evaluation with examination, ECG, and echocardiogram at the time of CM diagnosis, with follow-up assessments determined by the presence or development of abnormal findings or cardiac symptoms. (Level of Evidence: C) "

### Medication Therapy for Neuromuscular Diseases (NMDs) With Cardiac Involvement

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### ACE Inhibitors (ACEIs) and Angiotensin Receptor Blockers (ARB)

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Class I

"1. The use of an ACEI or ARB in the setting of a reduced EF is recommended for all NMDs. (Level of Evidence: B) "
Class IIb
"1. The use of an ACEI or ARB before onset of a reduced EF in boys with DMD age ≥10 years may be considered. (Level of Evidence: B) "

### β-Adrenergic Blockade

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Class I

"1. Given the balance of human data regarding the use of β-adrenergic blockade in DMD/BMD and, to a lesser extent, other neuromuscular disorders, the use of β-adrenergic blockade in the setting of any NMD with a reduced EF is recommended. (Level of Evidence: B) "
Class III
"1. Without other indication (eg, arrhythmia), the use of β-adrenergic blockade in the absence of reduced ejection fraction (EF) as therapy to delay or prevent onset of dilated cardiomyopathy is currently not recommended. (Level of Evidence: C) "

### Mineralocorticoid Antagonists

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Class IIa

"1. Given the evidence of benefit in adults with symptomatic LV systolic dysfunction, it is reasonable to consider the use of an aldosterone antagonist in DMD/BMD with systolic dysfunction. (Level of Evidence: C) "
Class IIb
"1. Use of an aldosterone antagonist in DMD/ BMD and with preserved left ventricular systolic function, particularly in those who have evidence of myocardial fibrosis (eg, LGE on CMR), may be considered. (Level of Evidence: C) "

### Glucocorticoids

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Class I

"1. Patients with NMD and uid retention associated with ventricular dysfunction should be treated with diuretic agents to achieve a euvolemic state. (Level of Evidence: C) "

### Anticoagulation

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Class IIb

"1. Aspirin or low-dose anticoagulation therapy may be considered for patients with BTHS and noncompaction phenotype. (Level of Evidence: C) "
"2. Thrombosis prophylaxis in children with NMDs, normal systolic ventricular function, and AF/atrial flutter may be considered, with type of therapy determined based on the individual patient’s thrombosis risk. (Level of Evidence: C) "
Class III
"1. Anticoagulation or antiplatelet therapy is not recommended for patients without a history of arrhythmia who have NMDs in which cardiac involvement commonly manifests as arrhythmia. (Level of Evidence: C) "

### Cardioverter-Defibrillator and Resynchronisation Therapy

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Class IIb

"1. It is reasonable to consider ICD placement in select NMD patients, particularly in NMDs in which arrhythmia may be a predominant feature (DMD, BMD, EDMD, DM1, FA, LGMD1B), after thoughtful discussion and decision mak- ing, which should be individualized and based on the overall medical status and options for management. (Level of Evidence: C) "

### End-Stage Heart Failure (HF)

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Class IIb

"1. Durable mechanical circulatory support (MCS) may be considered in carefully selected patients with NMD and end-stage HF as a bridge to cardiac transplantation or as destination therapy. (Level of Evidence: C) "
"2. Cardiac transplantation may be considered in carefully selected patients with NMD and end-stage HF despite appropriate therapies. (Level of Evidence: C) "
"3. The use of home parenteral inotropic therapy may be considered for treatment of care- fully selected patients with NMD as palliative therapy for symptom control in the setting of stage D HF despite optimal management. (Level of Evidence: C) "

### Supportive Care

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Class I

"1. Palliative and supportive care is recom- mended for patients with NMD and significant heart disease, including those receiving advanced HF treatments such as MCS or transplantation, and should be instituted early in the course of management. (Level of Evidence: C) "
"2. The multidisciplinary team, including palliative and supportive care, should discuss end- of-life issues, including advance directives and a living will, before MCS implantation in adults (and appropriate adolescent patients) with NMD and end-stage HF. (Level of Evidence: C) "
Class IIa
"1. It is reasonable to consider hospice care for all NMD patients with signi cant HF with a life expectancy of <6 months. (Level of Evidence: C) "