Journal of Rare Cardiovascular Diseases

Recent data indicate that substantial proportion of cardiomyopathy patients have in fact more than one phenotype, the phenomenon termed as overlap or mixed cardiomyopathy. The molecular mechanisms and pathology as well as clinical management and prognosis of overlap cardiomyopathy is largely unknown and speculative. We report the case of 51-year-old man who was admitted due to progressive intolerance of physical activity with concomitant shortness of breath. He underwent complex cardiological studies, including invasive examinations and endomyocardial biopsy. However, despite exhaustive diagnostic work-up, the final diagnosis is still not one-hundred percent certain, and we eventually diagnosed him with overlap cardiomyopathy as most probably two phenotypes of hypertrophic and restrictive cardiomyopathy coexist. Perhaps, cardiomyopathies are far too complex entities to be easily labeled with one or another term.
Accumulated data on the clinical course of various cardiomyopathies provide numerous evidence on the continuum rather than onceforever diagnosis. JRCD 2014; 1 (6): 21–28

Overlap cardiomyopathy, hypertrophic, restrictive cardiomyopathy, phenotype

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