Friedreich\'s ataxia presenting as cardiac disease
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Pediatr Cardiol 6 :41-42, 1985
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Pediatric Cardiology © Springer-Verlag 1985
Case Reports Friedreich's Ataxia Presenting as Cardiac Disease Geoffrey P . Sharratt, Jacob C . Jacob, and Chaker Hobeika Janeway Child Health Centre, St . John's, Newfoundland, Canada
SUMMARY . 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. KEY WORDS : Cardiac disease - Friedreich's ataxia - Left ventricular hypertrophy
Cardiac hypertrophy with Freidreich's ataxia has been known since the original description  . Recently Gottdiener et al .  in a study of 25 patients, by echocardiography, found concentric left ventricular hypertrophy in 50% . They suggested that this finding could be used as a marker of the disease as it was not found in other forms of spinocerebellar degeneration . Although cardiac symptoms occur  and cardiac failure is a common terminal event , there is little in the literature on patients presenting with cardiac disease and later developing ataxia . We find no reports of the echocardiographic features anteceding the development of the neurologic syndrome . Two such instances in one family are described . Case Histories Patient CS, a nine-year-old caucasian boy, was referred to the Department of Pediatric Cardiology because of chest pain in September 1981 . He had previously been asymptomatic . The chest pain was a vague central ache often related to exertion . Physical examination was normal . The electrocardiogram (ECG) was abnormal, showing T-wave inversion from lead V, to lead V 6 . The chest x-ray was normal . Echocardiography revealed concentric left ventricular hypertrophy (IVSd = 1 cm, LVPWd = 1 .2 cm, height = 128 cm, weight = 24 kg, BSA = 0 .94 m 2) with normal systolic function (ejection fraction 64%, fractional shortening 37%) and no systolic anterior motion of the anterior mitral valve Address reprint requests to : Dr . Geoffrey P . Sharratt, Janeway
Child Health Centre, Newfoundland Drive, St . John's, Newfoundland, Canada AIA 1R8 .
cusp (SAM) or premature closure of the aortic valve . A diagnosis of hypertrophic cardiomyopathy without obstruction was made and beta-blocker therapy started . This controlled the symptom . A few months earlier, the patient's older brother (DS) aged ten years, I I months, had developed progressive ataxia after an influenzalike illness . In view of the echocardiographic findings in patient CS, he was seen for evaluation . On examination the only abnormality in the cardiovascular system was a fourth heart sound . There was ataxia of gait and fine limb movement . There was a mild scoliosis . The ECG showed T-wave inversion from lead V, to lead V6 with ST-segment elevation in leads V 2 and V3 . Echocardiography revealed concentric left ventricular hypertrophy (IVSd = 1 .1 cm, LVPWd = 1 .2 cm, height = 133 cm, weight = 26 .4 kg, BSA = 0 .98 m 2) with normal systolic function (ejection fraction 70%, fractional shortening 42%) . There was no SAM or premature systolic closure of the aortic valve . The patient's other brother (LS), aged five years and three months, was asymptomatic and had a normal physical examination. The ECG showed fiat T-waves in leads V 5 and V6 and STsegment elevation in leads V 2 and V 3 . The echocardiogram showed borderline concentric left ventricular hypertrophy (IVSd = 0 .9 cm, LVPWd = 1 .0 cm, height = 115 cm, weight = 21 .5 kg, BSA = 0.83 m 2) with normal systolic function (ejection fraction 64%, fractional shortening 36%) . There was no other family history of ataxia or cardiac disease. The patient CS had no further chest pain after starting betablocker therapy, but nine months later he had developed mild ataxia . This was subsequently progressive and in addition he developed a scoliosis . The ataxia in the older brother (DS) has continued to progress . One year after the youngest brother (LS) was first seen, ataxia of fine finger movements became evident and subsequently he has become progressively ataxic and has developed a soliosis. His echocardiogram has shown progression in the left ventricular hypertrophy (IVSd = 1 .1 cm, LVPWd = 1 .1 cm) with normal systolic function .
Discussion The clinical diagnosis of Friedreich's ataxia  in these three brothers is made on the basis of : (a) autosomal recessive pattern of inheritance of the clinical syndrome, (b) prepubertal onset of symptoms, (c) ataxia, initially in the lower limbs (DS and CS) and later involvement of the upper limbs, (d) dysarthria of cerebellar type, (e) decreased or absent vibration sense in lower limbs, (f) areflexia, initially in the lower limbs, (g) progressive scoliosis, and (h) absence of evidence of a posterior cranial fossa mass lesion on computerized axial tomographic examination of the head (DS) . In addition, electrophysiologic studies (DS and CS) provided information supporting the clinical diagnosis . These studies include : (a) absence of cortical somatosensory evoked response on posterior tibial nerve stimulation, (b) absence of median nerve sensory action potential at the wrist, and (c) normal median nerve distal motor latency and normal F-wave conduction velocity . Friedreich's ataxia has been considered as an inheritable form of cardioneuropathy . The cardiac lesions, whether they are produced by damage to cardiac nerves  due to small vessel disease  or are a primary heart muscle problem, are a frequent association with the ataxic syndrome . This usually takes the form of myocardial hypertrophy that occasionally can be asymmetric with features similar to hypertropic obstructive cardiomyopathy [3, 9], but is more commonly concentric [4, 10] . Heart failure is a common mode of death in these patients  . Cardiovascular symptoms are not uncommon 9], but usually occur in patients with an establogic syndrome . The cases reported
Pediatric Cardiology Vol . 6, No . 1, 1985
here are unusual in that one, patient CS, presented as a cardiovascular problem and both CS and LS had ECG and echocardiographic evidence of cardiac disease before any neurologic involvement was apparent . This disease therefore needs to be considered when concentric left ventricular hypertrophy is found on an echocardiogram . It also raises the possibility that the ECG and echocardiogram can be used as a means of early detection of the disease in asymptomatic family members .
References 1 . Barbeau A (1978) Statement of the problem : Quebec cooperative study of Friedreich's ataxia . Can J Neurol Sci 5 :57-59 2 . Friedreich N (1863) Ueber degerative atrophic de spinalen hunterstrange . Arch Pathol Anal Physiol Klin Med 26:391433 3 . Gach JV, Andriange M, Franek G (1971) Hypertrophic obstructive cardiomyopathy and Friedreich's ataxia . Am J Cardiol 27 :436-441 4. Gottdiener JS, Hawley RJ, Maron BJ, Betirini TF, Engle WK (1982) Characteristics of the cardiac hypertrophy in Friedreich's ataxia . Am Heart J 103 :525-531 5 . Hewes RL (1969) The heart in Friedreich's ataxia. Br Heart J31 :5-14
6 . James TN, Fisch C (1963) Observations on the cardiovascular involvement in Friedreich's ataxia . Am Heart J 66 :164 7 . James NT (1983) Primary and secondary cardioneuropathies and their functional significance . J Am Coil Cardiol 2 :9831002 8 . Schilero AJ, Antzis E, Dunn J (1952) Friedreich's ataxia and its cardiac manifestations . Am Heart J 44 :805 9 . Smith ER, Sangalang VE, Heffernan LP, Welch JP, Flemington CS (1977) Hypertrophic cardiomyopathy : the heart disease of Friedreich's ataxia . Am Heart J 94:428-434 10 . St John Sutton MG, Olukotun AY, Tajik AJ, Lovett JZ, Giuliani ER (1980) Left ventricular function in Friedreich's ataxia . Br Heart J 44 :309-316