Literature DB >> 30430036

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.

Sudheer R Gorla1, Kishore R Raja1, Ashish Garg1, Deborah S Barbouth2, Paolo G Rusconi1.   

Abstract

Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndromes presents early in childhood. There are very few case reports of early-onset infantile HCM secondary to the PRKAG2 gene. Here, we report a case of HCM in a neonate diagnosed prenatally and eventually diagnosed with a missense mutation in the PRKAG2 gene.

Entities:  

Keywords:  Infantile Hypertrophic Cardiomyopathy; PRKAG2 gene mutation; worse outcome

Year:  2018        PMID： 30430036      PMCID： PMC6234042          DOI： 10.1055/s-0038-1657763

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  12 in total

1.  Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency.

Authors:  J J Regalado; M M Rodriguez; P L Ferrer
Journal:  Pediatr Cardiol       Date:  1999 Jul-Aug       Impact factor: 1.655

Review 2.  Clinical Spectrum of PRKAG2 Syndrome.

Authors:  Andrea Giuseppe Porto; Francesca Brun; Giovanni Maria Severini; Pasquale Losurdo; Enrico Fabris; Matthew R G Taylor; Luisa Mestroni; Gianfranco Sinagra
Journal:  Circ Arrhythm Electrophysiol       Date:  2016-01

3.  PRKAG2 mutations presenting in infancy.

Authors:  Rachel D Torok; Stephanie L Austin; Chanika Phornphutkul; Kathleen M Rotondo; Deeksha Bali; Gregory H Tatum; Stephanie B Wechsler; Anne F Buckley; Priya S Kishnani
Journal:  J Inherit Metab Dis       Date:  2017-08-11       Impact factor: 4.982

4.  Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

Authors:  E Blair; C Redwood; H Ashrafian; M Oliveira; J Broxholme; B Kerr; A Salmon; I Ostman-Smith; H Watkins
Journal:  Hum Mol Genet       Date:  2001-05-15       Impact factor: 6.150

5.  Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry.

Authors:  Steven D Colan; Steven E Lipshultz; April M Lowe; Lynn A Sleeper; Jane Messere; Gerald F Cox; Paul R Lurie; E John Orav; Jeffrey A Towbin
Journal:  Circulation       Date:  2007-01-29       Impact factor: 29.690

6.  The incidence of pediatric cardiomyopathy in two regions of the United States.

Authors:  Steven E Lipshultz; Lynn A Sleeper; Jeffrey A Towbin; April M Lowe; E John Orav; Gerald F Cox; Paul R Lurie; Kristina L McCoy; Melissa A McDonald; Jane E Messere; Steven D Colan
Journal:  N Engl J Med       Date:  2003-04-24       Impact factor: 91.245

7.  The epidemiology of childhood cardiomyopathy in Australia.

Authors:  Alan W Nugent; Piers E F Daubeney; Patty Chondros; John B Carlin; Michael Cheung; Lynette C Wilkinson; Andrew M Davis; Stephen G Kahler; C W Chow; James L Wilkinson; Robert G Weintraub
Journal:  N Engl J Med       Date:  2003-04-24       Impact factor: 91.245

8.  Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Authors:  Barbara Burwinkel; John W Scott; Christoph Bührer; Frank K H van Landeghem; Gerald F Cox; Callum J Wilson; D Grahame Hardie; Manfred W Kilimann
Journal:  Am J Hum Genet       Date:  2005-05-02       Impact factor: 11.025

9.  Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

Authors:  Hasan O Akman; James N Sampayo; Fiona A Ross; John W Scott; Gregory Wilson; Lee Benson; Claudio Bruno; Sara Shanske; D Grahame Hardie; Salvatore Dimauro
Journal:  Pediatr Res       Date:  2007-10       Impact factor: 3.756

10.  A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.

Authors:  Kun-Qi Yang; Chao-Xia Lu; Ying Zhang; Yan-Kun Yang; Jia-Cheng Li; Tian Lan; Xu Meng; Peng Fan; Tao Tian; Lin-Ping Wang; Ya-Xin Liu; Xue Zhang; Xian-Liang Zhou
Journal:  Sci Rep       Date:  2017-05-25       Impact factor: 4.379
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  1 in total

Review 1.  Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.

Authors:  Xue Gong; Peiyu Yu; Ting Wu; Yunru He; Kaiyu Zhou; Yimin Hua; Sha Lin; Tao Wang; He Huang; Yifei Li
Journal:  Mol Genet Genomic Med       Date:  2022-05-19       Impact factor: 2.473
  1 in total

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