Literature DB >> 22752490

Cardiac transplantation in Friedreich ataxia.

Grace Yoon1, Teesta Soman, Judith Wilson, Kristen George, Seema Mital, Anne I Dipchand, Jane McCabe, William Logan, Paul Kantor.   

Abstract

In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disease, with evidence of dysarthria, weakness, mild gait impairment, and limb ataxia. We review the ethical issues considered during the process leading to the decision to offer cardiac transplantation.

Entities:  

Mesh:

Year:  2012        PMID: 22752490      PMCID: PMC3671892          DOI: 10.1177/0883073812448229

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  20 in total

1.  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

2.  Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia.

Authors:  R Isnard; H Kalotka; A Dürr; M Cossée; M Schmitt; F Pousset; D Thomas; A Brice; M Koenig; M Komajda
Journal:  Circulation       Date:  1997-05-06       Impact factor: 29.690

3.  Friedreich's ataxia presenting after cardiac transplantation.

Authors:  H Leonard; R Forsyth
Journal:  Arch Dis Child       Date:  2001-02       Impact factor: 3.791

4.  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

5.  Mortality in Friedreich ataxia.

Authors:  Amy Y Tsou; Erin K Paulsen; Sarah J Lagedrost; Susan L Perlman; Katherine D Mathews; George R Wilmot; Bernard Ravina; Arnulf H Koeppen; David R Lynch
Journal:  J Neurol Sci       Date:  2011-06-08       Impact factor: 3.181

6.  Clinical and genetic correlate in childhood onset Friedreich ataxia.

Authors:  M Alikaşifoglu; H Topaloglu; E Tunçbilek; N Ceviz; B Anar; E Demir; S Ozme
Journal:  Neuropediatrics       Date:  1999-04       Impact factor: 1.947

7.  Left ventricular function in Friedreich's ataxia. An echocardiographic study.

Authors:  M G Sutton; A Y Olukotun; A J Tajik; J L Lovett; E R Giuliani
Journal:  Br Heart J       Date:  1980-09

8.  Marked variation in the cardiomyopathy associated with Friedreich's ataxia.

Authors:  D P Dutka; J E Donnelly; P Nihoyannopoulos; C M Oakley; D J Nunez
Journal:  Heart       Date:  1999-02       Impact factor: 5.994

9.  The PedsQL 4.0 as a pediatric population health measure: feasibility, reliability, and validity.

Authors:  James W Varni; Tasha M Burwinkle; Michael Seid; Douglas Skarr
Journal:  Ambul Pediatr       Date:  2003 Nov-Dec

10.  The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Authors:  A Filla; G De Michele; F Cavalcanti; L Pianese; A Monticelli; G Campanella; S Cocozza
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

View more
  5 in total

Review 1.  Friedreich ataxia: neuropathology revised.

Authors:  Arnulf H Koeppen; Joseph E Mazurkiewicz
Journal:  J Neuropathol Exp Neurol       Date:  2013-02       Impact factor: 3.685

Review 2.  Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.

Authors:  Anwar Baban; Valentina Lodato; Giovanni Parlapiano; Corrado di Mambro; Rachele Adorisio; Enrico Silvio Bertini; Carlo Dionisi-Vici; Fabrizio Drago; Diego Martinelli
Journal:  Biomolecules       Date:  2021-10-25

Review 3.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

4.  Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Authors:  Ashley McCormick; Jennifer Farmer; Susan Perlman; Martin Delatycki; George Wilmot; Katherine Matthews; Grace Yoon; Chad Hoyle; Sub H Subramony; Theresa Zesiewicz; David R Lynch; Shana E McCormack
Journal:  Ann Clin Transl Neurol       Date:  2017-07-26       Impact factor: 4.511

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.