Br HeartJ 1995;74:464-467

CASE REPORT

Chest pain during exercise as first manifestation ofFriedreich's ataxia

Pere Ferres-Sanchez, Maite Subirana-Domenech, Miquel Torner-Soler

AbstractCardiac function is affected in up to 90%/Oof patients with Friedreich's ataxia, themost common spinocerebellar degenera-tive disease. Friedreich's ataxia typicallycauses motor abnormalities of theextremities, mainly impairing walkingand the coordination ofthe legs and arms.The myocardium is affected at a laterstage of the disease. The extent and tim-ing of myocardial involvement deter-mines the clinical course. Some patientshave no cardiac symptoms and cardiacinvolvement can be established only byelectrocardiographic or echocardio-graphic examination. In addition somepathological studies have found evidenceof coronary abnormalities, mainly in thesmall vessels. There are no reports thatsuch lesions cause angina.

In a 16 year old patient chest pain onexercise had been the presenting symp-tom of Friedreich's ataxia at the age of 9.Considerable alterations in ventricularrepolarisation on the electrocardiogramsuggested a congenital coronary abnor-mality or hypertrophic myocardiopathy.The results of a Doppler echocardio-graphy, Holter monitoring, and ahaemodynamic study with coronaryarteriography were all normal. An exer-cise test when the boy was 13 indicatedsignificant changes in ventricular repo-larisation. Myocardial scintigraphy(9"Tc-MIBI) at that time, however, wasnormal. He improved slightly when hewas treated with verapamil. When he was15 neurological symptoms developed andFriedreich's ataxia was diagnosed.Typical angina during exercise seems tohave been the first symptom ofFriedreich's ataxia.

(Br Heart J 1995;74:464-467)

Keywords: Friedreich's ataxia; chest pain

Cardiac involvement in Friedreich'sataxiaFriedreich's ataxia is the most common degen-erative spinocerebellar disease. It is caused by arecessive autosomal gene on chromosome 9.'

Cardiac involvement is seen in 50-90% ofcases.2 Patients can remain symptom free forseveral years and the diagnosis is establishedby means of an electrocardiogram (ECG) oran echocardiogram or both. There areECG alterations in 80-100% of patients"'and echocardiographic abnormalities in50-86%.' 3 6 7The most frequent cardiac pathology is

hypertrophic myocardiopathy,'-8 which is usu-ally concentric, with preserved systolic func-tion. Nevertheless, in some cases the septum ispredominantly affected and there can be asubaortic gradient. A less common findingwith a much poorer prognosis, is dilatatedmyocardiopathy with reduced systolic func-tion. This is associated with tachyarrhythmias,development of congestive cardiac failure, andsudden death. It is not known whether thesedifferent forms are merely different stages ofthe disease or different effects.9The pathogenesis of cardiac lesions still

remains unknown. James et al '0 in a post-mortem examination of three patients withFriedreich's ataxia who all died from conges-tive cardiac insufficiency (congestive heart fail-ure) and atrial arrhythmias (one of these caseshad already been reported") suggested thepossibility of a multifactorial pathogenesis.Their mosaic concept ofpathogenesis involvedischaemic factors affecting both small andlarge coronary arteries; neurological factorsaffecting nerves and lymph nodes (cardio-neuropathy); and myopathic factors with focalfibrosis and cellular lesions, especially at thelevel of the myocytes (cardiomyopathy).

Coronary involvement, especially of smallvessels, has been described in several studiesbut in most its possible functional conse-quences were not evaluated.' "3 When Hewerreviewed necropsy specimens from 27 cases ofFriedreich's ataxia, he found lesions in somesmall coronary arteries.'3 However, he did notregard these lesions as important, because sooften arteries (about 9%) were affected. Hedid not think that these lesions could beresponsible for the extreme muscle fibrosis.Hewer thought that the arterial narrrowingwas secondary to degeneration of the cardiacmuscle. We believe that the number of sam-ples he studied represented only a very smallpart of the coronary arterial tree, too small apart to assess the overall involvement of the

Department ofCardiology, Hospitalde la Santa Creu i SantPau, S Antoni M'Claret, 16708025 BarcelonaP Ferres-SanchezM Subirana-DomenechM Tomer-SolerCorrespondence to:Dr P Ferres-Sanchez,C/Barcelona 27,08301-Mataro, Spain.Accepted for publication27 March 1995

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Chest pain during exercise atfirst manifestation of Friedrich's ataxia

Figure 1 (Left)Repolarisationabnormalities in theelectrocardiogram at restwith negative T waves inleads I, II, III and VF andall precordial leads. (Right)Significant ST segmentelevation in leads Vl-4during an exercise test

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coronary arterial tree, especially as any coro-nary abnormality is likely to have been focal.Nor is there any evidence that these lesions aresecondary to the actual myocardial pathology.Russell'4 found lesions causing stenosis of thelarge arteries in two of his four cases, andBoyer et al 15 found atheromatous lesions inone (a 25 year old woman) of two necropsycases. Such anatomical lesions may not be thesole cause of coronary ischaemia, however,both arterial tone and vasomotor reactivity arepossible causes of ischaemic myocardiopathy.Coronary spasm can affect both factors.Margalith et al described a case of Friedreich'sataxia in which coronary spasm was detected.'6

Case reportWe present the case of a 16 year old boy withan unremarkable personal and family historyin whom angina during exercise developedwhen he was 9. A resting electrocardiogramsubsequently showed abnormal ventricularrepolarisation, with negative T waves in allleads (fig IA). A standard echo-Doppler studywas normal. Holter monitoring for 24 hshowed no significant changes in ventricularrepolarisation at the high cardiac rates atwhich the chest pain had occurred. While thepatient was undergoing a standard Bruce pro-tocol exercise testing he complained of precor-dial pain which made it necessary to stop thetest. There were slight changes in the ST seg-ment. Myocardial scintigraphy (thallium-201)showed signs of posterobasal and inferiorhypoperfusion without redistribution. In viewof this finding, a haemodynamic study withcoronary arteriography was performed. Thisdid not show any coronary lesions and con-firmed that left ventricular systolic functionwas normal.

Given the absence of morphological abnor-malities, the case was classified as "thoracicpain during physical exercise" with no clearevidence of myocardial ischaemia. The patientwas instructed to have regular cardiologicalexaminations. The symptoms continued butthe patient learnt to stop exercising beforebecoming ill.When he was 13 he was referred to our hos-

pital. The clinical tests were repeated. Theresults were identical with those obtainedearlier (fig 2), except for the exercise test,which showed that repolarisation had becomemore abnormal (fig iB). Myocardial scintigra-phy with 99mTc-labelled methoxyisobutyl isoni-trile (MIBI), however, was normal. Treatmentwith nifedipine (30 mg/day) was started, with-out significant improvement. Verapamil wasthen tried (240 mg/day). This delayed theonset of thoracic pain on exercise, as con-firmed in repeat standard Bruce protocol exer-cise testing.

During the physical examination kyphoscol-iosis was found and he consulted anorthopaedic surgeon. At consultation,Friedreich's ataxia was suspected. Over thenext year incoordination of the legs becameprogressively evident.When he was 16 a new cardiac ultrasound

study showed a slightly hypertrophied, non-dilatated left ventricle (septum 12mm, poste-rior wall 11 mm) with normal systolic function(fig 3).

CommentsWe believe that there are enough reportedstudies to confirm that coronary involvementis an integral part of the cardiomyopathyassociated with Friedreich's ataxia. Ourpatient seems to be an example of such

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Ferres-Sanchez, Subirana-Domenech, Torner-Soler

Figure 2 Normalechocardiographic studywhen the patient was 13years old

involvement. We cannot, however, rule out avasospastic factor in our patient. No biopsywas carried out to assess whether there werelesions in the small coronary vessels, but inview of the published data and the clinicalhistory of the patient, we think we have

sufficient evidence to regard coronary ischa-emia as the cause of thoracic pain in ourpatient.

Angina is a rare symptom in children andadolescents and we have not been able to findany other cases that resemble our patient.

Figure 3 Echocardiogramshowing slight hypertrophyof the left ventricle when thepatient was 16years old

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Chest pain during exercise atfirst manifestation ofFriedrich's ataxia

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