Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy

Autor:	Michael Marble, Thuylinh M. Nguyen, Christian Lilje, Sravani Avula
Rok vydání:	2017
Předmět:	Cardiac response Cardiac function curve medicine.medical_specialty Ejection fraction biology business.industry Hypertrophic cardiomyopathy Enzyme replacement therapy Disease 030204 cardiovascular system & hematology medicine.disease Troponin 03 medical and health sciences 0302 clinical medicine Ventricular hypertrophy Internal medicine cardiovascular system medicine biology.protein Cardiology Radiology Nuclear Medicine and imaging Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery
Zdroj:	Echocardiography. 34:621-624
ISSN:	0742-2822
DOI:	10.1111/echo.13490
Popis:	Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. We report the cardiac response to ERT of a child with IOPD and severe hypertrophic cardiomyopathy. The myocardial hypertrophy resolved. Change in ejection fraction, however, was slow. We discuss the potential benefit of other parameters beyond ejection to assess cardiac function in IOPD, including speckle tracking-based strain.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::09444a2726a098bb3fd57da1df7526bc https://doi.org/10.1111/echo.13490 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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