38
Mitochondrial Myopathies Including Friedreich Ataxia
Table 6. Clinical scenarios for management of patients with FA
Clinical scenario
A 30-year-old man with FA is referred for consideration of primary prevention ICD
from general cardiology. FA diagnosis occurred at age 15 years with the slow progression
of skeletal muscle weakness until the patient became nonambulatory at age 25 years.
Echocardiogram at age 25 years showed concentric hypertrophy. Echocardiogram 10
months before the current visit showed dilated CM with calculated ejection fraction 32%.
The patient was initiated on GDMT. Repeat echocardiography at 4 months before the
current visit showed no improvement in LVEF. The patient remained asymptomatic
from a cardiac standpoint. He is independent, lives alone with a service dog, and is
employed as a clerk at a medical facility. He has ongoing family support.
