Skip to main content
×
Home
    • Aa
    • Aa

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein

  • Rebecca Sparkes (a1), David Patton (a2) and Francois Bernier (a1)
Abstract

Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.

Copyright
Corresponding author
Correspondence to: Dr. Francois Bernier, Department of Medical Genetics, Alberta Children's Hospital, 2888 Shaganappi Trail N.W., Calgary, Alberta T38 6A8, Canada. Tel: +403 955 7373; Fax: +403 955 2701; E-mail: francois.bernier@calgaryhealthregion.ca
Linked references
Hide All

This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

MurphyRT, StarlingRC. Genetics and cardiomyopathy: where are we now?Cleve Clin J Med2005; 72: 465466, 469–470, 472–473.

BowlesKR, BowlesNE. Genetics of inherited cardiomyopathies.Expert Rev Cardiovasc Ther2004; 2: 683697.

TowbinJA, BowlesNE. Arrhythmogenic inherited heart muscle diseases in children.J Electrocardiol2001; 34(Suppl): 151165.

DaveyKM, ParboosinghJS, McLeodDR, et al. Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.J Med Genet2006; 43: 385393.

ScalgliaF, TowbinJA, CraigenWJ, et al. Clinical spectrum, morbidity and mortality in 113 pediatric patients with mitochondrial disease.Pediatrics2004; 114: 925931.

LevD, NissenkornA, Leshinsky-SilverE, et al. Clinical presentations of mitochondrial cardiomyopathies.Pediatr Cardiol2004; 25: 443450.

TirantiV, HoertnagelK, CarrozzoR, et al. Mutations of SURF-1 in Leigh Syndrome associated with cytochrome c oxidase deficiency.Am J Hum Genet1998; 63: 16091621.

MokranjacD, SichtingM, NeupertW, HellK. Tim12, a novel key component of the import motor of the TIM23 protein translocase of mitochondria.Embo J2003; 22(19): 49454956.

Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Keywords: