Literature DB >> 11373694

The Mount Sinai Hospital clinicalpathological conference: a 45-year-old man with Pompe's disease and dilated cardiomyopathy.

R Ben-Ami1, J Puglisi, T Haider, D Mehta.   

Abstract

This is an unusual case of a 45-year-old man, born in Ecuador, with evidence of profound left ventricular dysfunction, dilated cardiomyopathy and marked myocardial hypertrophy. Preceding events were advanced atrioventricular block (necessitating pacemaker implantation) and atrial flutter. The diagnosis of Pompe's disease was established by endomyocardial biopsy and appropriate staining, which indicated abnormal glycogen storage.

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Year:  2001        PMID： 11373694

Source DB:  PubMed          Journal:  Mt Sinai J Med        ISSN： 0027-2507


  4 in total

Review 1.  The Genetic Challenges and Opportunities in Advanced Heart Failure.

Authors:  Fady Hannah-Shmouni; Sara B Seidelmann; Sandra Sirrs; Arya Mani; Daniel Jacoby
Journal:  Can J Cardiol       Date:  2015-08-21       Impact factor: 5.223

2.  Right ventricular function in late-onset Pompe disease.

Authors:  Abdallah Fayssoil; Olivier Nardi; Djillali Annane; David Orlikowski
Journal:  J Clin Monit Comput       Date:  2014-01-14       Impact factor: 2.502

Review 3.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

4.  Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Authors:  Mari Mori; Lauren A Bailey; Januario Estrada; Catherine W Rehder; Jennifer S Li; Joseph G Rogers; Deeksha S Bali; Anne F Buckley; Priya S Kishnani
Journal:  JIMD Rep       Date:  2016-05-04
  4 in total

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