Key result
ICD bridges infant with histiocytoid cardiomyopathy and recurrent arrhythmic storms to heart transplant.
Why the study?
The concurrence of compound CACNA2D1 and RANGRF mutations with histiocytoid cardiomyopathy had not been comprehensively described before.
Case Report (n=1)
This case report describes the first known concurrence of compound CACNA2D1 and RANGRF mutations with histiocytoid cardiomyopathy, LVNC, and WPW syndrome in a baby.
May support ICD bridging to transplant in rare infant arrhythmia cases; hypothesis-generating for histiocytoid cardiomyopathy with CACNA2D1/RANGRF mutations.
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.
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Cataldo et al. (2014) conducted a case report in Histiocytoid cardiomyopathy, left ventricular non-compaction, and Wolff-Parkinson-White syndrome (n=1). Implantable cardiac defibrillator was evaluated on Survival to heart transplant. An implantable cardiac defibrillator allowed a female baby with histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutations to survive recurrent arrhythmic storms until heart transplant.
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