Cardiac involvement in a large kindred with myotonic dystrophy: quantitative assessment and relation to size of CTG repeat expansion

LS Tokgozoglu, T Ashizawa, A Pacifico, RM Armstrong… - Jama, 1995 - jamanetwork.com
Objective.—To evaluate and quantitate cardiac involvement in myotonic dystrophy and
assess whether the size of the trinucleotide (cytosine-thymine-guanine [CTG]) repeat
expansion is a significant predictor of cardiac abnormalities. Design.—Case-control study of
a large kindred with myotonic dystrophy. Patients.—Ninety-one bloodline members of the
kindred underwent clinical and cardiac evaluation with electrocardiograms,
echocardiography (with Doppler in the majority of cases), and genetic and neurologic …