Involvement of the cardiac conduction system is a common clinical feature in myotonic dystrophy, whereas the association of primary myocardial abnormalities has rarely been reported. A patient with a severe form of congenital myotonic dystrophy who developed fatal left ventricular hypertrophy at 3 months of age and died at 2 years of age is reported. Serial ultrasonographic studies revealed progressive left ventricular hypertrophy accompanied by outflow obstruction of the left ventricle. Southern analysis for the myotonin kinase gene revealed a 5.8 kb expansion of CTG repeats in addition to a fragment of normal length. The degree of expansion was much greater than those of other reported patients with congenital myotonic dystrophy. These findings suggest that left ventricular hypertrophy represents an extreme level of myocardial damage in myotonic dystrophy and that this damage may be related to the larger size of the CTG repeats.
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