Literature DB >> 6959422

[WPW syndrome combined with AV block 2 in an adult with glycogenosis (Type II)].

M Francesconi, E Auff, C Ursin, E Sluga.   

Abstract

A 31 year-old female with a five year history of muscle weakness, cardiac palpitations and elevation of activity of some serum enzymes of muscular origin, showed signs of the WPW syndrome on ECG, often in combination with grade 2 A-V block. Type II glycogenosis (Pompe's disease) was diagnosed on the basis of the results of physical examination, laboratory findings--especially subtotal deficiency of acid maltase (a-1,4 glucosidase) activity-and morphological aspects of light and electron microscopy of a quadriceps muscle biopsy specimen. To our knowledge the coincidence of such a rarely encountered arrhythmia with glycogenosis type II in an adult has never been reported so far.

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Year:  1982        PMID: 6959422

Source DB:  PubMed          Journal:  Wien Klin Wochenschr        ISSN: 0043-5325            Impact factor:   1.704


  5 in total

Review 1.  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

2.  Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Authors:  Matthew R G Taylor; Lisa Ku; Dobromir Slavov; Jean Cavanaugh; Mark Boucek; Xiao Zhu; Sharon Graw; Elisa Carniel; Carl Barnes; Dianna Quan; Ryan Prall; Mark A Lovell; Gary Mierau; Patsy Ruegg; Naresh Mandava; Michael R Bristow; Jeffrey A Towbin; Luisa Mestroni
Journal:  J Hum Genet       Date:  2007       Impact factor: 3.172

3.  Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Authors:  Daniel Forsha; Jennifer S Li; P Brian Smith; Ans T van der Ploeg; Priya Kishnani; Sara K Pasquali
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

4.  Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.

Authors:  Roddy McDowell; Jennifer S Li; Daniel Kelly Benjamin; Claire Morgan; Alison Becker; Priya S Kishnani; Ronald J Kanter
Journal:  Genet Med       Date:  2008-10       Impact factor: 8.822

Review 5.  Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

Authors:  Carlos R Ferreira; Nenad Blau
Journal:  Mol Genet Metab       Date:  2020-12-25       Impact factor: 4.797

  5 in total

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