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Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency

Published online by Cambridge University Press:  15 July 2014

Ranjana Dhar ,
William Reardon  and
Colin J. McMahon
Ranjana Dhar
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland
William Reardon
Affiliation:
National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland
Colin J. McMahon*
Affiliation:
Department of Paediatric Cardiology, Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland
*
Correspondence to: C. J. Mc Mahon, Cardiac Department, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland. Tel: +01 409 6160; Fax: +01 409 6181; E-mail: cmcmahon992004@yahoo.com
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Abstract

We report a baby girl with an antenatal diagnosis of biventricular non-compaction and complete heart block detected at 22 weeks’ gestation. Postnatal echocardiography confirmed severe biventricular non-compaction hypertrophic cardiomyopathy, multiple muscular ventricular septal defects, and mild–moderate pulmonary valve stenosis. Skeletal muscle biopsy confirmed complex 1 mitochondrial respiratory chain deficiency. An epicardial VVI pacemaker was implanted on day 3 of life and revised at 7 years of age. She remains stable at 8 years of age following pacing and medical treatment with carvedilol, aspirin, co-enzyme Q10, and carnitine. This represents the first report of biventricular non-compaction hypertrophic phenotype in association with congenital complete heart block and complex 1 mitochondrial respiratory chain deficiency in a child.

Keywords

Left ventricular non-compactionhypertrophic cardiomyopathycongenital heart blockpacemakercomplex 1 mitochondrial respiratory enzyme deficiency
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 5 , June 2015 , pp. 1019 - 1021
Copyright
© Cambridge University Press 2014 

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