Dilated cardiomyopathy in young patients – genetics, inflammation or autoimmunity?

Introduction: Myocarditis is an infectious–inflamma-tory disease often superimposed to individual genetic background which could favour its progression into a chronic heart muscle disorder, most often dilated cardi-omyopathy. 95% of myocarditis are secondary to a viral infection. The natural history is similar to classic forms of genetic or idiopathic dilated cardiomyopathies and it is still, unclear, whether in this case, the myocarditis is the cause which uncover myocardial genetic anomalies or the genetic alterations favour the evolution to end stage myocardial disease.

Methods: We hereby present the case of a 30-year-old patient without known chronic pathology, who addressed to the family doctor for a persistent infec-tious episode in the last 8 weeks and pain and swelling in the large joints. On this occasion, tachycardia was documented and he was addressed to our clinic for evaluation.

Results: At admission the patient had fever. The clini-cal exam revelead tachycardic heart beats, with a grade 2/6 systolic mitral murmur. Laboratory findings revea-led inflammatory syndrome, hepatocitolysis syndrome, hypoproteinemia and microalbuminuria. Blood cultu-re samples were negative. ECG showed a possible ri-ght atrial tachycardia 160 bpm. The echocardiography revealed a globally enlarged cord with reduced ejection fraction and diffuse hypokinesia (15%), a thin pericar-dial effusion posterior to the left ventricle, patent fora-men ovale. When discussing the underlying cause of the dilated cardiomyopathy, the following were taking into consideration: a tachycardiomyopathy (but after controlling the heart rate, sinus rhythm was documen-ted), ischemic etiology (excluded by angio-CT), genetic component (excluded by the echocardiographic evalu-ation of the brother), autoimmune etiology (positive ANA based on the anti-Ro titer, but without criteria for primary or secondary Sjogren) and a viral myocardi-tis (cardiac MRI confirming the appearance of chronic myocarditis). The patient was referred for inclusion on the cardiac transplant list.

Conclusions: The presented case highlights a myocar-ditis which was diagnosed in a young patient directly in its final stage of dilated cardiomyopathy and it is distin-guished by a particular immunological panel requiring dynamic monitoring in order to diagnose a possible associated autoimmune pathology.

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)
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