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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Calcium Channels / genetics*
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Calcium Channels / metabolism
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Cardiomyopathies / congenital*
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Cardiomyopathies / diagnosis
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Cardiomyopathies / genetics
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Cardiomyopathies / metabolism
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DNA / genetics*
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DNA Mutational Analysis
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Electron Transport Complex III / deficiency*
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Electron Transport Complex III / genetics
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Electron Transport Complex III / metabolism
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Electrophysiologic Techniques, Cardiac
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Female
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Humans
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Infant, Newborn
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Mutation*
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ran GTP-Binding Protein / genetics*
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ran GTP-Binding Protein / metabolism
Substances
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CACNA2D1 protein, human
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Calcium Channels
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DNA
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RANGNRF protein, human
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ran GTP-Binding Protein
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Electron Transport Complex III
Supplementary concepts
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Cardiomyopathy, infantile histiocytoid