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Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier

Published online by Cambridge University Press:  23 June 2010

Shi Wei Yang ,
Marc-Phillip Hitz  and
Gregor Andelfinger
Shi Wei Yang
Affiliation:
Department of Pediatrics, Sainte Justine Hospital, Service of Cardiology, University of Montréal, Montréal, Quebec, Canada Department of Cardiology, Nanjing Children’s Hospital, Nanjing Medical University, Nanjing, China
Marc-Phillip Hitz
Affiliation:
Department of Pediatrics, Sainte Justine Hospital, Service of Cardiology, University of Montréal, Montréal, Quebec, Canada
Gregor Andelfinger*
Affiliation:
Department of Pediatrics, Sainte Justine Hospital, Service of Cardiology, University of Montréal, Montréal, Quebec, Canada
*
Correspondence to: G. Andelfinger, MD, CHU Sainte Justine, Service of Cardiology, 3175, Côte Sainte Catherine, Montréal, Quebec, H3T 1C5, Canada. Tel: 514 345 4931, extn 3244; Fax: 514 345 4896; E-mail: gregor.andelfinger@recherche-ste-justine.qc.ca
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Abstract

Here, we report an infantile case of ventricular septal defect and restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. Initially diagnosed with a perimembranous ventricular septal defect in the newborn period, we observed the first signs of restrictive cardiomyopathy at the age of 18 months. The patient was listed for cardiac transplantation at the age of 8 years despite optimal medical treatment. The finding of a de novo mutation in TNNI3 (R204H) enabled a genetic diagnosis and counselling. We suggest that the previously reported overlap of functional and morphologic phenotypes in sarcomeric genes may also be a feature of TNNI3 mutations.

Keywords

Troponincardiomyopathiesgenotype–phenotype correlation
Type
Brief Reports
Information
Cardiology in the Young , Volume 20 , Issue 5 , October 2010 , pp. 574 - 576
Copyright
Copyright © Cambridge University Press 2010

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References

1. Nugent, AW, Daubeney, PE, Chondros, P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003; 348: 1639–1646.CrossRefGoogle ScholarPubMed
2. Rivenes, SM, Kearney, DL, Smith, EO, Towbin, JA, Denfield, SW. Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation 2000; 102: 876–882.CrossRefGoogle ScholarPubMed
3. Russo, LM, Webber, SA. Idiopathic restrictive cardiomyopathy in children. Heart 2005; 91: 1199–1202.CrossRefGoogle ScholarPubMed
4. 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.CrossRefGoogle ScholarPubMed
5. Gambarin, FI, Tagliani, M, Arbustini, E. Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray. Heart 2008; 94: 1257.Google Scholar
6. Doolan, A, Tebo, M, Ingles, J, et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J Mol Cell Cardiol 2005; 38: 387–393.CrossRefGoogle ScholarPubMed
7. Monserrat, L, Hermida-Prieto, M, Fernandez, X, et al. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J 2007; 28: 1953–1961.Google Scholar
8. Mogensen, J, Kubo, T, Duque, M, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest 2003; 111: 209–216.Google Scholar
9. Carballo, S, Robinson, P, Otway, R, et al. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res 2009; 105: 375–382.Google Scholar
10. Peddy, SB, Vricella, LA, Crosson, JE, et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 2006; 117: 1830–1833.CrossRefGoogle ScholarPubMed
11. Ware, SM, Quinn, ME, Ballard, ET, Miller, E, Uzark, K, Spicer, RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet 2008; 73: 165–170.Google Scholar
12. Willott, RH, Gomes, AV, Chang, AN, Parvatiyar, MS, Pinto, JR, Potter, JD. Mutations in Troponin that cause HCM, DCM AND RCM: What can we learn about thin filament function? J Mol Cell Cardiol 2010; 48: 882–892.Google Scholar
13. Neumayer, U, Stone, S, Somerville, J. Small ventricular septal defects in adults. Eur Heart J 1998; 19: 1573–1582.CrossRefGoogle ScholarPubMed

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