Literature DB >> 11159298

Friedreich's ataxia presenting after cardiac transplantation.

H Leonard1, R Forsyth.   

Abstract

A 4 year old boy underwent cardiac transplantation because of cardiomyopathy with ischaemia. Following transplantation he developed neurological signs of Friedreich's ataxia and the diagnosis was confirmed with genetic testing. Cardiomyopathy is a rare presentation of Friedreich's ataxia and to our knowledge this is the first reported transplant operation for the cardiomyopathy associated with this condition.

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Year:  2001        PMID： 11159298      PMCID： PMC1718633          DOI： 10.1136/adc.84.2.167

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  18 in total

Review 1.  Autosomal recessive osteopetrosis: diagnosis, management, and outcome.

Authors:  C J Wilson; A Vellodi
Journal:  Arch Dis Child       Date:  2000-11       Impact factor: 3.791

2.  Accessing electronic information for clinical decisions.

Authors:  R S Phillips
Journal:  Arch Dis Child       Date:  2000-11       Impact factor: 3.791

3.  Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.

Authors:  D H Geschwind; S Perlman; W W Grody; M Telatar; L Montermini; M Pandolfo; R A Gatti
Journal:  Neurology       Date:  1997-10       Impact factor: 9.910

4.  Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.

Authors:  P J Lamont; M B Davis; N W Wood
Journal:  Brain       Date:  1997-04       Impact factor: 13.501

5.  Mapping of mutation causing Friedreich's ataxia to human chromosome 9.

Authors:  S Chamberlain; J Shaw; A Rowland; J Wallis; S South; Y Nakamura; A von Gabain; M Farrall; R Williamson
Journal:  Nature       Date:  1988-07-21       Impact factor: 49.962

6.  The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases.

Authors:  A E Harding; R L Hewer
Journal:  Q J Med       Date:  1983

7.  Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

Authors:  L Schöls; G Amoiridis; H Przuntek; G Frank; J T Epplen; C Epplen
Journal:  Brain       Date:  1997-12       Impact factor: 13.501

8.  Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.

Authors:  P Rustin; J C von Kleist-Retzow; K Chantrel-Groussard; D Sidi; A Munnich; A Rötig
Journal:  Lancet       Date:  1999-08-07       Impact factor: 79.321

9.  Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases.

Authors:  G De Michele; L Di Maio; A Filla; M Majello; S Cocozza; F Cavalcanti; E Mirante; G Campanella
Journal:  Neuropediatrics       Date:  1996-02       Impact factor: 1.947

10.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245
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  7 in total

1.  Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.

Authors:  R Mark Payne; P Melanie Pride; Clifford M Babbey
Journal:  Pediatr Cardiol       Date:  2011-03-01       Impact factor: 1.655

Review 2.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 3.  [Heart involvement in Friedreich's ataxia].

Authors:  F Weidemann; F Scholz; C Florescu; D Liu; K Hu; S Herrmann; G Ertl; S Störk
Journal:  Herz       Date:  2014-05-23       Impact factor: 1.443

Review 4.  Cardiac transplantation in Friedreich ataxia.

Authors:  Grace Yoon; Teesta Soman; Judith Wilson; Kristen George; Seema Mital; Anne I Dipchand; Jane McCabe; William Logan; Paul Kantor
Journal:  J Child Neurol       Date:  2012-06-29       Impact factor: 1.987

5.  Onset features and time to diagnosis in Friedreich's Ataxia.

Authors:  Elisabetta Indelicato; Wolfgang Nachbauer; Andreas Eigentler; Matthias Amprosi; Raffaella Matteucci Gothe; Paola Giunti; Caterina Mariotti; Javier Arpa; Alexandra Durr; Thomas Klopstock; Ludger Schöls; Ilaria Giordano; Katrin Bürk; Massimo Pandolfo; Claire Didszdun; Jörg B Schulz; Sylvia Boesch
Journal:  Orphanet J Rare Dis       Date:  2020-08-03       Impact factor: 4.123

Review 6.  Heart disease in Friedreich's ataxia.

Authors:  Emily Hanson; Mark Sheldon; Brenda Pacheco; Mohammed Alkubeysi; Veena Raizada
Journal:  World J Cardiol       Date:  2019-01-26

7.  Should Advanced Friedreich's Ataxia Be a Contraindication for Heart Transplantation? A Case Report of a Successful Procedure in a 58-Year-Old Patient.

Authors:  María Jesús Valero; Jose L Muñoz-Blanco; Alejandro Garrido Sanchez; Gregorio Cuerpo; Javier Castrodeza; Paula Navas; Iago Sousa; Adolfo Villa; Francisco Fernández-Avilés; Manuel Martínez-Sellés
Journal:  J Cardiovasc Dev Dis       Date:  2022-03-09
  7 in total

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