Hypertrophic cardiomyopathy: The heart disease of Friedreich's ataxia
1977; Elsevier BV; Volume: 94; Issue: 4 Linguagem: Inglês
10.1016/s0002-8703(77)80035-5
ISSN1097-6744
AutoresEldon R. Smith, Virgilio Sangalang, L. P. Heffernan, John P. Welch, C. Susan Flemington,
Tópico(s)Cardiomyopathy and Myosin Studies
ResumoSummary Recent case reports have drawn attention to the occasional association of hypertrophic cardiomyopathy (HCM, IHSS) with Friedreich's ataxia. In order to ascertain the frequency of this association, 11 patients (ages 9 to 30 years) with Friedreich's ataxia were assessed clinically and by means of echocardiography, a technique recently shown to provide a highly sensitive and relatively specific means to detect HCM. Two patients had clinical features suggestive of obstructive HCM and these plus two others had electrocardiographic (ECG) evidence of left ventricular hypertrophy. All four had echocardiographic features of HCM (septal-to-posterior wall thickness ratios ranging from 1.5 to 2.3), with or without evidence of outflow tract obstruction. The remaining seven patients had normal clinical examinations and normal echocardiograms although two had T wave abnormalities on ECG. Sixteen first-degree relatives of these patients were evaluated in the same manner; none had clinical, ECG, or echocardiographic evidence of myocardial disease. Thus, approximately one-third of this group of patients with Friedreich's ataxia had HCM. This finding suggests that HCM is the specific cardiomyopathy of classical Friedreich's ataxia and that both the neurologic and myocardial defects represent pleiotropic effects of the same deleterious gene. Since approximately 50 per cent of patients with Friedreich's ataxia die from cardiac cause, early detection and management of HCM may favorably alter their prognosis.
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