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Diagnostic testing and risk stratification in EDMD and
LGMD1B
COR LOE Recommendations
1 C-EO 1. Coordinated care of patients with EDMD or LGMD1B
should be conducted in a medical setting where there is
access to expertise in the neurological, cardiac, arrhythmic,
pulmonary, and genetic manifestations of these disorders.
1 B-NR 2. In patients with EDMD or LGMD1B, cardiac evaluation
including physical examination, ECG, ambulatory ECG, and
cardiac imaging (echocardiography or CMR) at diagnosis
with periodic retesting is recommended even in the absence
of cardiac symptoms.
1 B-NR 3. First-degree relatives of patients with genetically confirmed
EDMD or LGMD1B, who do not have access or have opted
out of genetic testing, should be screened with ECG and
cardiac imaging (echocardiography or CMR).
2a C-EO 4. In patients with EDMD or LGMD1B, who have symptoms
of conduction disorder or arrhythmias, implantable cardiac
monitoring is reasonable, even in the setting of a normal
12-lead ECG, normal ambulatory ECG monitoring, and/or
normal transthoracic echocardiogram.
2b C-LD 5. In patients with EDMD or LGMD1B with symptoms
consistent with bradycardia and ECG evidence of mild to
moderate conduction disorder, or symptoms consistent
with ventricular tachyarrhythmias, and when noninvasive
testing is nondiagnostic, EP testing may be considered for
risk stratification for sustained arrhythmias, AV block, and
sudden cardiac death.
Bradycardias, conduction disorders, and use of pacing or
CRT in EDMD and LGMD1B
COR LOE Recommendations
1 B-NR 1. In patients with EDMD or LGMD1B with an LVEF ≤35%
despite GDMT, with a combination of sinus rhythm, LBBB,
QRS duration ≥150 ms, and NYHA class II to class IV
symptoms, or in those with suspected RV pacing-induced
CM or anticipated RV pacing ≥40%, CRT is recommended if
concordant with the patient's goals of care and clinical status.
1 C-EO 2. In patients with EDMD or LGMD1B in whom pacing
is indicated and ICD therapy is not concordant with
the patient's goals of care and clinical status, a PPM or, if
appropriate, CRT-P implantation is recommended.
Emery-Dreifuss and Limb-girdle Type 1B
Muscular Dystrophy
