To the Editor:
We read with interest the report “Friedreich's ataxia as a cause of premature coronary artery disease” by Giugliano and Sethi.1 The article provides a review of many of the diverse cardiologic manifestations of Friedreich's ataxia (FA) and the overall heterogeneity of this disorder. In particular, the issue of coronary artery disease in FA has been understated in the neurological literature, and it provides one explanation for the occasional precipitous decline in cardiac function that we have noted in a few of the roughly 100 patients with FA whom we have evaluated over the past decade.
However, it is important to put the cardiac issues in FA within the context of the modern prognosis for the disorder. Although the exact mortality rate for patients with FA has not been investigated recently, we disagree with the authors' contention that most patients with FA die in the 3rd or 4th decade. Life expectancy in FA is affected by a variety of factors. First, better medical therapy has led to longer survival and improved quality of lifefor patients with FA. Second, patients with less-severe phenotypes have been identified since the advent of genetic testing. Third, we now recognize that a large number of patients with FA, even among those who carry more severe genetic abnormalities,2–4 do not have significant cardiomyopathy. Because patients with FA generally do not develop dementia, they usually attend college, are employed as professionals and paraprofessionals, and lead lives that are successful and productive.
Over the next few years, new therapies for FA are likely to improve survival and quality of life even further. With such improvements, there will be opportunities for more aggressive therapies directed at repair of the cardiac dysfunction. Patients with FA have already received cardiac transplants on occasion and have had ventricular assist devices implanted chronically.5,6 Whether to pursue such therapies in a specific patient will always be a decision best made by the individual patient and his or her physicians. Therefore, it is important for cardiologists to be able to provide advice on such decisions within the context of the modern medical prognosis for patients with FA.
David R. Lynch, MD, PhD
Jennifer M. Farmer, MS, CGC
Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Robert B. Wilson, MD, PhD
Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
References
- 1.Giugliano GR, Sethi PS. Friedreich's ataxia as a cause of premature coronary artery disease. Tex Heart Inst J 2007;34:214–7. [PMC free article] [PubMed]
- 2.Lynch DR, Farmer JM, Tsou AY, Perlman S, Subramony SH, Gomez CM, et al. Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology 2006;66:1711–6. [DOI] [PubMed]
- 3.Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 1999;87: 168–74. [DOI] [PubMed]
- 4.Lynch DR, Farmer JM, Balcer LJ, Wilson RB. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 2002;59:743–7. [DOI] [PubMed]
- 5.Sedlak TL, Chandavimol M, Straatman L. Cardiac transplantation: a temporary solution for Friedreich's ataxia-induced dilated cardiomyopathy. J Heart Lung Transplant 2004;23: 1304–6. [DOI] [PubMed]
- 6.Yoda M, El-Banayosy A, Arusoglu L, Tendrich G, Minami K, Korfer R. Permanent use of a ventricle assist device for dilated cardiomyopathy in Friedreich's ataxia. J Heart Lung Transplant 2006;25:251–2. [DOI] [PubMed]