Wednesday, April 14, 2021

Remember friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy: revisited

Anwar BABAN, Marianna CICENIA, Lorena TRAVAGLINI, Federica CALÍ, Gessica VASCO, Paola FRANCALANCI, Antonio NOVELLI, Rachele ADORISIO, Antonio AMODEO, Bruno DALLAPICCOLA, Enrico BERTINI, Fabrizio DRAGO. Minerva Pediatr 2021 Apr 02. DOI: 10.23736/S2724-5276.21.05969-3 

We believe on the importance of taking in consideration this rare condition even in a toddler with apparently isolated cardiomyopathy and especially when conventional investigations give negative results. We discuss potential trigger effect of heart transplant as a precipitating factor in manifesting neurological symptoms. This observation corresponds to our experience and relates to three patients described so far (the third patient died suddenly). Early onset cardiomyopathy with FRDA should increase awareness of this rare condition and we highlight HT successful outcome. Further reports are needed to delineate this rare condition in youngsters.