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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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References

1. Finsterer, J. Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin Cardiol 2008; 31: 225–227.CrossRefGoogle ScholarPubMed
2. Edston, E, Perskvist, N. Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant. Int J Leg Med 2009; 123: 47–53.Google Scholar
3. Antzelevitch, C. Genetic, molecular and cellular mechanisms underlying the J wave syndromes. Circ J 2012; 76: 1054–1065.Google Scholar
4. Templin, C, Ghadri, JR, Rougier, JS, et al. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQT6). Eur Heart J 2011; 32: 1077–1088.Google Scholar
5. Burashnikov, E, Pfeiffer, R, Barajas-Martinez, H, et al. Mutations in the cardiac L-type calcium channel associated woth inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 2010; 7: 1872–1882.CrossRefGoogle Scholar
6. Campuzano, O, Berne, P, Selga, E, et al. Brugada syndrome and p.E61X_RANGRF. Cardiol J 2013; doi: 10.5603/CJ.a2013.0125 [Epub ahead of print].Google Scholar
7. Epstein, AE, Di Marco, JP, Elenborgen, KA, et al. ACC/AHA/HRS2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices) Developed in Collaboration With the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008; 117: E350–E408.Google Scholar