Hypertrophic cardiomyopathy in Friedreich's ataxia.

Abstract

The cardiac findings in two sibs with Friedreich's ataxia are described. The clinical signs were suggestive of hypertrophic obstructive cardiomyopathy. During left heart catheterization a systolic pressure gradient across the left ventricular outflow tract could be provoked by an infusion of isoprenaline. Left ventricular angiocardiograms and echocardiograms showed gross thickening of the interventricular septum. In one patient a systolic anterior movement of the anterior leaflet of the mitral valve was seen. The importance of serial echocardiographic examination for patients with Friedreich's ataxia is emphasized.

Noninvasive Assessment of Systolic and Diastolic Function in 50 Patients with Friedreich’s Ataxia

“…In our series of patients the occurrence of symptoms was lower than previously re ported [6,7,19]. Dyspnea on exertion was the most common observed finding, but in some patients it is due to weakness of the respiratory musculature.…”

“…Echocardiographie studies have demon strated that the most common cardiac ab normality in Friedreich's ataxia is left ven tricular (LV) hypertrophy; however, the data are unclear regarding the occurrence and the type of the hypertrophy [5][6][7][8][9][10].…”

Early-onset cerebellar ataxia with retained tendon reflexes

“…Nine patients were boys and 7 were girls. The mean age of onset of symptoms was 7.1 (range [2][3][4][5][6][7][8][9][10][11][12][13][14] years. The mean duration of disease was 4.0 (range 1-10) years.…”

Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia.

“…38 Cardioneuropathy may also affect myocardial contractility. The inevitable regional variations in the neural inotropic influence may be the basis of some of the unusual changes in segmental wall motion or other ventricular contractile abnormalities described in Friedreich's cardiomyopathy.13- 16 [20][21][22][23][24][25][26][27][28][29] There is not much dispute about the general nature of the myocardial lesions: hypertrophy of fibres, widely scattered focal degeneration and varying degrees of fibrosis, and the unusual nuclear abnormalities first described by Russell. Hypertrophy of the heart is generalised, as are each of the myocardial lesions.…”