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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
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
Department of Pediatrics, Sainte Justine Hospital, Service of Cardiology, University of Montréal, Montréal, Quebec, Canada
Gregor Andelfinger*
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:


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.

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Copyright © Cambridge University Press 2010

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