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The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby

Published online by Cambridge University Press:  17 January 2014

Stefania Cataldo ,
Giuseppe A. Annoni  and
Nicola Marziliano
Stefania Cataldo*
Affiliation:
Congenital Heart Disease Unit, Niguarda Ca’ Granda Hospital, Milan, Italy
Giuseppe A. Annoni
Affiliation:
Congenital Heart Disease Unit, Niguarda Ca’ Granda Hospital, Milan, Italy
Nicola Marziliano
Affiliation:
Clinical Research Unit, Niguarda Ca’ Granda Hospital, Milan, Italy
*
Correspondence to: S. Cataldo. Piazza Ospedale Maggiore 3, 20162 Milano, Italy. Tel: +39 02 64443813; E-mail: [email protected]
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Abstract

A female baby suffered from a rare association between histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff–Parkinson–White syndrome causing severe and recurrent arrhythmic storms. Antiarrhythmic drugs, radiofrequency ablation of Purkinje tissue, and sympathetic denervation were ineffective. The implant of a cardiac defibrillator allowed her to survive till heart transplant. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.

Keywords

Congenital heart diseasecardiovascular geneticsarrhythmias
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 1 , January 2015 , pp. 174 - 176
Copyright
© Cambridge University Press 2014 

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