Friedreich's ataxia presenting as cardiac disease

Abstract

Three male children with Friedreich's ataxia, from a single family, are described. The first patient presented as a cardiologic problem with anginalike chest pain. He was found to have echocardiographic evidence of concentric left ventricular hypertrophy (LVH). He later developed ataxia. The younger brother also had LVH but was asymptomatic and later became ataxic. The elder brother was already ataxic at the time of diagnosis. To our knowledge this is the first report of echocardiographic concentric left ventricular hypertrophy preceding the neurologic syndrome of Friedreich's ataxia.

The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9

“…In one patient electrocardiographic signs preceded the neurological manifestation of the disease. A similar finding was reported previously for another patient by Sharratt et al [22].…”

Differenzialdiagnose von Thoraxschmerzen bei Kindern und Jugendlichen

“…Entscheidend für die Diagnose ist in allen Fällen die Echokardiografie. Bei Kardiomyopathien ist häufig die Familienanamnese positiv oder es liegen Syndrome wie Friedreich-Ataxie, Noonen-oder Turner-Syndrom vor, bei denen hypertrophe Kardiomyopathien gehäuft auftreten (12).…”