Literature DB >> 16391987

Coincidence of long QT syndrome and propionic acidemia.

B Kakavand1, V A Schroeder2, T G Di Sessa2.   

Abstract

Propionic acidemia and long QT syndrome (LQTS) are rare disorders. In addition, both conditions are potentially lethal. The patient presented in this article was initially diagnosed with propionic acidemia. Incidentally, she was found to have LQTS on electrocardiogram and verified by stress test and epinephrine challenge. Although the patient was asymptomatic and arrhythmia free, we started her on atenolol. This is the first report of the association between LQTS and propionic acidemia.

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Year:  2006        PMID： 16391987     DOI： 10.1007/s00246-005-1129-7

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  7 in total

1.  Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

Authors:  C Pérez-Cerdá; S Clavero; B Pérez; P Rodríguez-Pombo; L R Desviat; M Ugarte
Journal:  Biochim Biophys Acta       Date:  2003-05-20

2.  Propionic acidemia: a rare cause of cardiomyopathy.

Authors:  A K Bhan; C Brody
Journal:  Congest Heart Fail       Date:  2001 Jul-Aug

3.  Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome.

Authors:  Wataru Shimizu; Takashi Noda; Hiroshi Takaki; Noritoshi Nagaya; Kazuhiro Satomi; Takashi Kurita; Kazuhiro Suyama; Naohiko Aihara; Kenji Sunagawa; Shigeyuki Echigo; Yoshihiro Miyamoto; Yasunao Yoshimasa; Kazufumi Nakamura; Tohru Ohe; Jeffrey A Towbin; Silvia G Priori; Shiro Kamakura
Journal:  Heart Rhythm       Date:  2004-09       Impact factor: 6.343

4.  Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.

Authors:  Wataru Shimizu; Takashi Noda; Hiroshi Takaki; Takashi Kurita; Noritoshi Nagaya; Kazuhiro Satomi; Kazuhiro Suyama; Naohiko Aihara; Shiro Kamakura; Kenji Sunagawa; Shigeyuki Echigo; Kazufumi Nakamura; Tohru Ohe; Jeffrey A Towbin; Carlo Napolitano; Silvia G Priori
Journal:  J Am Coll Cardiol       Date:  2003-02-19       Impact factor: 24.094

5.  HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

Authors:  Z Zhou; Q Gong; M L Epstein; C T January
Journal:  J Biol Chem       Date:  1998-08-14       Impact factor: 5.157

6.  Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.

Authors:  C Jiang; D Atkinson; J A Towbin; I Splawski; M H Lehmann; H Li; K Timothy; R T Taggart; P J Schwartz; G M Vincent
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

7.  Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11.

Authors:  M Keating; C Dunn; D Atkinson; K Timothy; G M Vincent; M Leppert
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025
  7 in total
  8 in total

1.  Cardiac arrest secondary to long QT(C )in a child with propionic acidemia.

Authors:  Elisabeth Jameson; John Walter
Journal:  Pediatr Cardiol       Date:  2007-12-05       Impact factor: 1.655

Review 2.  Organic acidurias in adults: late complications and management.

Authors:  Ali Tunç Tuncel; Nikolas Boy; Marina A Morath; Friederike Hörster; Ulrike Mütze; Stefan Kölker
Journal:  J Inherit Metab Dis       Date:  2018-01-15       Impact factor: 4.982

Review 3.  Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

Authors:  Nishitha R Pillai; Bridget M Stroup; Anna Poliner; Linda Rossetti; Brandy Rawls; Brian J Shayota; Claudia Soler-Alfonso; Hari Priya Tunuguntala; John Goss; William Craigen; Fernando Scaglia; V Reid Sutton; Ryan Wallace Himes; Lindsay C Burrage
Journal:  Mol Genet Metab       Date:  2019-11-07       Impact factor: 4.797

4.  Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing.

Authors:  Adam J Guenzel; Sean E Hofherr; Matthew Hillestad; Mary Barry; Eric Weaver; Sarah Venezia; Jan P Kraus; Dietrich Matern; Michael A Barry
Journal:  Mol Ther       Date:  2013-05-07       Impact factor: 11.454

5.  Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Authors:  Jessica Scott Schwoerer; Sandra van Calcar; Gregory M Rice; James Deline
Journal:  Mol Genet Metab Rep       Date:  2016-06-02

6.  Ventricular Arrhythmias in a Patient With Propionic Acidemia.

Authors:  Anthony A Della Rossa; Priyadarshini M Dixit; Ruchit Shah; Stephanie Hang; Jacky Duong
Journal:  Cureus       Date:  2022-09-09

7.  Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.

Authors:  Sarah C Grünert; Stephanie Müllerleile; Linda De Silva; Michael Barth; Melanie Walter; Kerstin Walter; Thomas Meissner; Martin Lindner; Regina Ensenauer; René Santer; Olaf A Bodamer; Matthias R Baumgartner; Michaela Brunner-Krainz; Daniela Karall; Claudia Haase; Ina Knerr; Thorsten Marquardt; Julia B Hennermann; Robert Steinfeld; Skadi Beblo; Hans-Georg Koch; Vassiliki Konstantopoulou; Sabine Scholl-Bürgi; Agnes van Teeffelen-Heithoff; Terttu Suormala; Wolfgang Sperl; Jan P Kraus; Andrea Superti-Furga; Karl Otfried Schwab; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2013-01-10       Impact factor: 4.123

Review 8.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
  8 in total

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