Evaluation of genetic causes of cardiomyopathy in childhood

Cardiology in the Young

Volumn 25, Issue S2, 2015, Pages 43-50

  Ware, Stephanie M ^a  

^a INDIANA UNIVERSITY   (United States)

Author keywords

genetic syndrome; genetic variant; Mutation; sarcomere

Indexed keywords

CARDIOMYOPATHY; CARDIOVASCULAR RISK; CONFERENCE PAPER; CONGESTIVE CARDIOMYOPATHY; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY HISTORY; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART FAILURE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INBORN ERROR OF METABOLISM; LEARNING DISORDER; METABOLIC DISORDER; NEUROMUSCULAR DISEASE; PATHOGENESIS; PREVALENCE; PROGNOSIS; CARDIAC MUSCLE; CARDIOMYOPATHIES; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETICS; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PATHOLOGY; PEDIATRICS;

CARDIOMYOPATHIES; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MUTATION, MISSENSE; MYOCARDIUM; NEONATAL SCREENING; PEDIATRICS;

EID: 84941909662     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951115000827     Document Type: Conference Paper

References (34)

1. Colan SD, Lipshultz SE, Lowe AM, et al. Epidemiology and causespecific outcome of hypertrophic cardiomyopathy in children: findings from the pediatric cardiomyopathy registry. Circulation 2007; 115: 773-781
2. Grenier MA, Osganian SK, Cox GF, et al. Design and implementation of the North American Pediatric Cardiomyopathy registry. Am Heart J 2000; 139: S86-S95
3. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006; 296: 1867-1876
4. Wilkinson JD, Landy DC, Colan SD, et al. The Pediatric Cardiomyopathy Registry and heart failure: key results from the first 15 years. Heart Fail Clin 2010; 6: 401-413, vii
5. Cox GF, Sleeper LA, Lowe AM, et al. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics 2006; 118: 1519-1531
6. Lipshultz SE, Orav EJ, Wilkinson JD, et al. Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet 2013; 382: 1889-1897
7. Kaski JP, Syrris P, Burch M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008; 94: 1478-1484
8. Kaski JP, Syrris P, Esteban MT, et al. Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet 2009; 2: 436-441
9. Kindel SJ, Miller EM, Gupta R, et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012; 18: 396-403
10. Tariq M, Ware SM. Importance of genetic evaluation and testing in pediatric cardiomyopathy. World J Cardiol 2014; 6: 1156-1165
11. Tandon A, Jefferies JL, Villa CR, et al. Dystrophin genotypecardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. Am J Cardiol 2015; 115: 967-971
12. Payne RM, Wagner GR. Cardiomyopathy in Friedreich ataxia: clinical findings and research. J Child Neurol 2012; 27: 1179-1186
13. Cox GF. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24: 15-25
14. Badertscher A, Bauersfeld U, Arbenz U, Baumgartner MR, Schinzel A, Balmer C. Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica 2008; 97: 1523-1528
15. Byers SL, Ficicioglu C. Infant with cardiomyopathy: when to suspect inborn errors of metabolism?. World J Cardiol 2014; 6: 1149-1155
16. American College of Medical Genetics Newborn Screening Expert G. Newborn screening: toward a uniform screening panel and system - executive summary. Pediatrics 2006; 117: S296-S307
17. Therrell BL Jr., Lloyd-Puryear MA, Camp KM, Mann MY. Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab 2014; 113: 14-26
18. Laemmle A, Balmer C, Doell C, Sass JO, Haberle J, BaumgartnerMR. Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr 2014; 173: 971-974
19. Lee TM, Addonizio LJ, Barshop BA, Chung WK. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis 2009; 32 (Suppl 1): S97-S101
20. Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925-931
21. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Prac Res Clin Endocrinol Metab 2011; 25: 161-179
22. Wilkinson JD, Lowe AM, Salbert BA, et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012; 164: 442-448
23. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746-759
24. Long PA, Evans JM, Olson TM. Exome sequencing establishes diagnosis of Alstrom syndrome in an infant presenting with nonsyndromic dilated cardiomyopathy. AmJ Med Genet A 2015; 167A: 886-890
25. Michaud JL, Heon E, Guilbert F, et al. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 1996; 128: 225-229
26. Czosek RJ, Goldenberg P, Miller EM, Spicer R, Towbin JA, Ware SM. Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies. Cardiogenetics 2012; 2: 6-10
27. Worthley MI, Zeitz CJ. Case of Alstrom syndrome with late presentation dilated cardiomyopathy. Intern Med J 2001; 31: 569-570
28. Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy - a heart failure society of America practice guideline. J Card Fail 2009; 15: 83-97
29. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011; 8: 1308-1339
30. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54: 201-211
31. Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010; 31: 2715-2726
32. Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med 2011; 364: 1643-1656
33. Van Langen I, Arens Y, Baars H, et al. Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM).Neth Heart J 2010; 18: 144-159
34. Miller EM, Wang Y, Ware SM. Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. J Genet Couns 2013; 22: 258-267