30
Table 5. Clinical scenarios for the management of arrhythmias
in EDMD and LGMD1B
Clinical scenario
EDMD (cont'd)
2. A 64-year-old man with EDMD2 presents to the clinic to discuss ICD generator
change. He was diagnosed with EDMD2 when he was 25 years old, after developing
elbow and Achilles joint contractures and progressive humeroperoneal muscle
weakness. Genetic testing confirmed an LMNA mutation (1q21-q23 locus).
He underwent implantation of a dual-chamber ICD 15 years ago after developing
significant symptomatic bradycardia in the setting of high-grade AV block. He has
never had shocks from his device. His interrogation reveals normal device function
and stable lead parameters. His ventricular pacing frequency is <0.1%. His ICD is
now at elective replacement indicator, and generator change is scheduled in 1 month.
His neuromuscular symptoms have been progressively worsening, and he expresses
reluctance to have his generator replaced.
3. A 12-year-old boy with EDMD, whose father required transplant due to EDMD-
related CM, presented with frequent episodes of nonsustained atrial tachycardia
at 10 years of age. His arrhythmia burden was ~14% with a maximum rate of 241
bpm. At that time, his LVEF was normal and his baseline ECG demonstrated a
PR interval of 202 ms and a QRS duration of 92 ms. Despite medical therapy,
he developed incessant atrial tachycardia with periods of bradycardia due to
variable AV conduction. He underwent an EP study at 12 years of age. He was
found to have diffuse scarring of both atria. He had multiple arrhythmia circuits.
His HV interval was 50 ms in tachycardia. Control of the atrial tachycardia
was not achieved with ablation attempts. Subsequent ambulatory monitoring
demonstrated periods of high-grade AV block with pauses up to 3 seconds with
continued underlying atrial tachycardia.
Emery-Dreifuss and Limb-girdle Type 1B
Muscular Dystrophy
(cont'd)
