Disproportionate exercise limitation in patients with cardiovascular diseas
e is a common problem faced by clinical cardiologists and other physicians.
Symptoms may be attributed to psychological factors or hypothetical pathop
hysiological mechanisms that are difficult to confirm clinically. This case
report describes how the use of metabolic exercise testing in a 28 year ol
d woman with morphologically and haemodynamically mild hypertrophic cardiom
yopathy and severe exercise limitation led to the diagnosis of an alternati
ve cause for the patient's symptoms, namely a primary disturbance of the mi
tochondrial respiratory chain probably caused by a nuclear encoded gene def
ect.