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]

Approach to Cardiac Evaluation in Neuromuscular Diseases (NMDs)

Management of Cardiac Involvement Associated With Neuromuscular Diseases

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 recommenda- tions within pediatric cardiomyopathies. (Level of Evidence: B) "

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

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)

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)

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)

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)

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)

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) "