Minerva Pediatrics 2021 Apr 02

DOI: 10.23736/S2724-5276.21.05969-3

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

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

Anwar BABAN ¹, Marianna CICENIA ¹, Lorena TRAVAGLINI ², Federica CALÍ ¹, Gessica VASCO ³, Paola FRANCALANCI ⁴, Antonio NOVELLI ⁵, Rachele ADORISIO ¹, Antonio AMODEO ⁶, Bruno DALLAPICCOLA ¹, Enrico BERTINI ², Fabrizio DRAGO ¹ ✉

¹ European Reference Network for rare, low prevalence and complex diseases of the heart - ERN GUARD-Heart HCP, Pediatric Cardiology and Arrhythmia/Syncope Units, Bambino Gesù Children Hospital and Research Institute, Rome, Italy; ² European Reference Network for Rare Neurological Disorders HCP, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children Research Hospital IRCCS, Rome, Italy; ³ Department of Neurosciences, Bambino Gesù Children Hospital and Research Institute, Rome, Italy; ⁴ Department of Pathology, Bambino Gesù Children Hospital and Research Institute, Rome, Italy; ⁵ Laboratory of Medical Genetics, Bambino Gesù Children Hospital and Research Institute, Rome, Italy; ⁶ Mechanical Assist Device Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Research Hospital IRCCS, Rome, Italy

BACKGROUND: Friedreich Ataxia (FRDA) is the most common form of ataxia in late childhood. Neurological manifestations often precede cardiac involvement, presenting mainly as hypertrophic cardiomyopathy.
METHODS: We describe a toddler with apparently isolated severe heart failure, successfully managed with heart transplant (HT). Although well described in adolescents and adults, onset of FRDA is very uncommon in toddlers and neurological ataxic features are predominant. The presenting symptom of cardiomyopathy is very rare. Similar history is rarely reported in literature, that we described, including an aggressive cardiomyopathy in children younger than 5years-old.
RESULTS: Our patient was diagnosed with FRDA at a postoperative stage due to minimal neurological manifestations. Moreover, the novelty of this study lies in demonstrating a major DNA triplet repeat expansion in skeletal muscle compared to DNA from peripheral blood leukocytes. These results support the concept that triplet repeat expansion is variable among different tissues in FRDA, and in our case it was more expanded in the post mitotic muscular tissue than in blood cells.
CONCLUSIONS: 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.

KEY WORDS: Friedreich ataxia; Cardiomyopathy; End-stage heart failure; Neuromuscular disease; Toddler