Overlap cardiomyopathy – coexistence of hypertrophic and restrictive cardiomyopathy phenotypes in one patient (RCD code: III-2A.1)

Pawel Rubis, Sylwia Wiśniowska-Śmiałek, Lucyna Rudnicka, Małgorzata Urbańczyk-Zawadzka, Agata Leśniak-Sobelga, Magdalena Kostkiewcz, Maria Olszowska, Piotr Podolec

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Abstract


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


Keywords


Overlap cardiomyopathy, hypertrophic, restrictive cardiomyopathy, phenotype

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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol1no6.119

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