Late diagnoses of the myotonic dystrophy Curschmann-Steinert in a female patient with dilated cardiomyopathy and her son

A 41 year old woman presented with dyspnoea at rest and swollen legs in the emergency room of our centre. She reported a history of slowly progressing dyspnoea and oedema in the legs. Physical examination showed signs of bive ntricular congestive heart failure and dysmorphia of the face. Routine labo ratory examination revealed elevated CK levels without significant elevatio ns of the CK-MB isoform. ECG showed complete left bundle branch block and f irst degree atrioventricular block. Echocardiography and angiography showed markedly reduced left ventricular systolic function, the ejection fraction was 25%. Coronary angiography excluded CAD and there was no evidence fur c ongenital or valvular heart disease. The patient also reported a history of a serious complication during emergency general anaesthesia and cataracts of both eyes. Because of the clinical and chemical findings, the history of cataracts and complications during general anaesthesia, a systemic congenital disease of the muscular tissue was suspected. Molecular studies revealed a trinucleot ide amplification at the myotonic dystrophy locus 19q 13.3, so the diagnosi s myotonic dystrophy Curschmann-Steinert was established. The sixteen year old son of the patient suffered from an at this time unknown disease with r etardation, muscular weakness and myotonia of the face. The diagnosis myoto nic dystrophy was evident because of the clinical signs and the family hist ory.