PubMed 24438356

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: cacna2d1

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

Authors: Stefania Cataldo, Giuseppe A Annoni, Nicola Marziliano

Journal, date & volume: Cardiol Young, 2015 Jan , 25, 174-6

PubMed link:

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.