Acute coronary syndrome in a young patient with Steinert’s disease

Introducere: Myotonic type 1 dystrophy (DM1) or Steinert’s disease is currently the most common form of adult myotonic dystrophy. This multisystem disease is autosomal dominant, being associated with myoto-nia, progressive weakness of the muscles and numerous systemic manifestations. Chronic respiratory failure is the most common cause of death, followed by cardi-ac events. We present the case of a patient with type I muscular dystrophy, which presents for suddenly in-stalled dyspnea with specific dynamics of myocardial necrosis markers for acute coronary syndrome.

Methods: This case is about a 36-year-old male patient, affected by DM1, with moderate-severe mitral regurgi-tation in the context of mitral valve prolapse, a minor right bundle branch block, which presents at the hospi-tal for sudden dyspneea. He accuses a dry, ineffective, persistent cough for about a week, following a respi-ratory intercourse, with fever, which resolute under antibiotic therapy. The objective examination shows an afebril patient with polypnea, ineffective dry cough, left basal diminished vesicular murmur, left basal cre-pitations and bilateral diffuse rhonchi; regular cardiac sounds, tachycardia, holosystolic apical murmur with axillary irradiation; hypotension, without other signi-ficant alterations. Biologically, the specific dynamics of myocardial necrosis markers (TnI=2-8.12-0.4-0.2 ng/ ml) is observed; leukocytosis with neutrophilia; mild inflammatory syndrome; mild hepatocitolysis; hypoxe-mia with normocapnia. Electrocardiographic registra-tion shows sinus rhythm, 105 beats/ min, QRS axis at -30 degrees, grade I atrioventricular block, left ventri-cle hypertrophy, acute, positive, symmetrical T waves in V4-V6 derivations, then T-wave inversion in DII, III, aVF, V3 -V9 derivations. Transthoracic echocar-diography reveals a hypertrophied left ventricle, with mild systolic dysfunction (EF- 52%) – due to inferior interventricular septum and anterior wall hypokinesia and type II delayed diastolic dysfunction. Additionally, anterior, severe eccentric mitral regurgitation was iden-tified. In the light of the significant increase of myocar-dial necrosis enzymes, diagnosis of acute myocardial infarction without ST segment elevation is made and pharmacological treatment is initiated conservatively. Results: We are describing a case of a mixed congeni-

tal disease: muscular and cardiac, in a young patient, who had the last cardiological check-up 8 years ago. He presented symptoms of severe dyspnea, interpretable in the initial context as severe cardiac decompensation, secondary to valvulopathy , or post-myocarditis status, but when corroborating clinical data with paraclinic data (myocardial necrosis enzymes and serial electro-cardiograms, ecocardiography) led to the diagnosis of acute myocardial infarction without ST segment elevation.

Conclusions: 1. A very young patient diagnosed with DM1, of which association of cardiac manifestations are rather rare, according to literature data,seen mai-nly as mitral valvular prolapse or cardiac conduction rhythm disorders, but very rarely heart failure in the context of „myotonic“ cardiac dysfunction, due to the fact, that physical activity is very low, in the context of skeletal myotonia. 2. The clinical picture and initi-al anamnestic data could have led us to the diagnosis of: myocardial infarction, acute coronary syndrome, or cardiac decompensation in the valvular context. 3. Ca-reful periodic assessment, including cardiac, not only neurological, is mandatory and necessary to identify patients at major risk of fatal cardiovascular events.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)