The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.
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.
1Congenital Heart Disease Unit,Niguarda Ca' Granda Hospital,Milan,Italy.
Stefania
S
Cataldo
1Congenital Heart Disease Unit,Niguarda Ca' Granda Hospital,Milan,Italy.
Giuseppe A
GA
Annoni
2Clinical Research Unit,Niguarda Ca' Granda Hospital,Milan,Italy.
Nicola
N
Marziliano
D000483:Alleles; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D009202:Cardiomyopathies / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D014450:Electron Transport Complex III / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D022062:Electrophysiologic Techniques, Cardiac; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D020931:ran GTP-Binding Protein / Q000235:genetics* / Q000378:metabolism
C425903:CACNA2D1 protein, human; D015220:Calcium Channels; D004247:DNA; C498735:RANGNRF protein, human; D020931:ran GTP-Binding Protein; D014450:Electron Transport Complex III