Author + information
- Received September 26, 1985
- Revision received January 13, 1986
- Accepted January 17, 1986
- Published online June 1, 1986.
- John S. Child, MD, FACCa,
- Joseph K. Perloff, MD, FACC,
- Philip M. Bach, MD,
- Allan D. Wolfe, MD,
- Susan Perlman, MD and
- R.A. Pieter Kark, MD
- ↵aAddress for reprints: John S. Child, MD, Division of Cardiology, Room 47-123 CHS, UCLA Medical Center, Los Angeles, California 90024.
To establish the prevalence and to characterize the types of cardiac involvement in Friedreich's ataxia, 75 consecutive patients (39 male and 36 female), aged 10 to 66 years (mean 24) were prospectively studied. Electrocardiograms were performed in all patients, vectorcardiograms in 34 and echocardiograms in 58. Electrocardiographic and vectorcardiographic abnormalities occurred in 69 (92%) of the 75 patients. Electrocardiograms revealed ST-T wave abnormalities in 79%, right axis deviation in 40%, short PR interval in 24%, abnormal R wave in lead V1in 20%, abnormal inferolateral Q waves in 14% and left ventricular hypertrophy (voltage and repolarization criteria) in 16%. Echocardiograms revealed concentric left ventricular hypertrophy in 11%, asymmetric septal hypertrophy in 9% and globally decreased left ventricular function in 7%. Progression from a normal echocardiogram to concentric left ventricular hypertrophy, asymmetric septa( hypertrophy or globally decreased left ventricular function was identified in one patient in each category, although the study was not designed for longitudinal follow-up. Two patients died, and necropsy revealed in both a minimally dilated but flabby left ventricle.
On the basis of electrocardiographic and vectorcardiographic and echocardiographic data, 95% of patients had one or more disorders. The most common abnormality was segmental myocardial “dystrophy” (electrocardiographic QRS initial force abnormalities), but global left ventricular hypokinesia occurred more often than previously recognized. Concentric and asymmetric hypertrophic cardiomyopathy were equally prevalent but their overall incidence was less than that previously reported. It is not known why a phenotypically homogeneous neuropathic disease is accompanied by disparate types of cardiac involvement and why a nonmyopathic systemic disorder afflicts the myocardium.
This study was supported by Grant NS 15245 from the National Institutes of Health, United States Public Health Service, Bethesda, Maryland, Grant E800241 from the Muscular Dystrophy Association, New York, New York and by grants and donations from the Easter Seal Research Foundation, Chicago, Illinois, the Friedreich's Ataxia Group of America, Oakland, California, the National Ataxia Foundation, Minneapolis, Minnesota, the Marjorie L. Johnson Fund, Charleston, South Carolina and by the Streisand/American Heart Association Professorship, Los Angeles, California. The data were presented in part at the 56th Scientific Sessions of the American Heart Association, Anaheim, California, November 1983.
- Received September 26, 1985.
- Revision received January 13, 1986.
- Accepted January 17, 1986.
- American College of Cardiology Foundation