neurological associations chronic heart block

Journal ofNeurology, Neurosurgery, and Psychiatry, 1976, 39, 571-575

Neurological associations of chronic heart blockC. D. LAMBERT AND A. J. FAIRFAX

From the Departments of Neurology and Cardiology, St. George's Hospital, London

SYNOPSIS A large group of patients with chronic heart block was studied for evidence ofneurological disorder. Six out of 892 patients were found who had neuromuscular diseaserelated to the conduction disturbance. In four patients, cardiac involvement appeared selectivelyto affect the conducting tissues. Three of these patients had a scapuloperoneal syndrome, thefourth, the oculocraniosomatic syndrome. In the remaining two patients, one with limb girdledystrophy and the other with dystrophia myotonica, cardiomyopathy was present in addition tothe conduction disturbance.

This paper reports the first comprehensivestudy of the frequency and nature of neuro-logical disorders occurring in association withcomplete heart block. The most commonpathological cause of chronic heart block isidiopathic bundle branch fibrosis (Davies,1971) thought by Lenegre, who described it, tobe a selective myopathy of the cardiac con-ducting 'tissues (Lenegre, 1964). His originalseries of 66 cases contained two patients with'muscular dystrophy of a type difficult to clas-sify.' The aim of this paper was, therefore, toclassify the types of neuromuscular disorderwhich occur in patients with complete heartblock and to find how frequently this associa-tion accounts for the development of atrio-ventricular dissociation in the population atlarge.

METHODS

The case records of 892 patients with chroniccomplete heart block from the cardiological de-partments of St. George's Hospital and theNational Heart Hospital were studied for evidenceof neurological abnormality. To confirm that thedocumentation of the patients was adequate, arandom sample of 20% of the total grotip wasinterviewed and examined personally. Patients

Address for correspondence: Dr C. D. Lambert, Atkinson MorleyHospital, Wimbledon, London SW20 ONE.(Accepted 22 January 1976.)

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with incomplete heart block or transient heartblock secondary to myocardial infarction were notincluded.Those cases with evidence of neuromuscular

disease were examined in detail, a family historytaken, serum creatine phosphokinase levels meas-ured and, when possible, electromyography per-formed. Muscle biopsy specimens, obtained underlocal anaesthetic, were examined using conven-tional morphological and histochemical techniques(Dubowitz and Brooke, 1973).

RESULTS

The 892 patients (501 male, 391 female) whowere studied were aged between 2 and 97 years,with a mean of 70 years. Among 675 patientswith idiopathic heart block there were six withneuromuscular abnormalities considered to berelated aetiologically to the development oftheir disturbance of cardiac conduction. Threepatients had a scapuloperoneal syndrome andthe others had respectively limb girdle dys-trophy, dystrophia myotonica, and the oculo-craniosomatic syndrome (Tables 1 and 2).

CASE 1

A.H., a 54 year old male decorator, noticed weak-ness in his left foot at the age of 39 years; thiswas followed by weakness of both shoulders. Tenyears later difficulty in rising from a chair becameevident. Cardiac symptoms from complete heart

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C. D. Lambert and A. J. Fairfax

TABLE 1NEUROLOGICAL DATA: SIX PATIENTS WITH ATRIOVENTRICULAR HEART BLOCK AND NEUROMUSCULAR DISEASE

Case Sex Family Age (yr) Clinical Serum EMG Muscleno. history ( classification CPK biopsy

(a) (b) (c) Iu/I

I M - 39 47 54 Scapuloperoneal 17 Myopathic Myopathydystrophy

2 M - 20s 69 80 Scapuloperoneal 145 - -syndrome

3 M + 35 62 69 Scapuloperoneal 69 Myopathic Myopathydystrophy

4 F - Child- 33 39 Limb girdle 176 Myopathic Myopathyhood dystrophy

5 M - 15 - 22 Oculocraniosomatic 57 Myopathic Mitochondrialsyndrome myopathy

6 F + 20s 59 63 Dystrophia - Myotoniamyotonica

a: age onset neurological illness.b: age onset cardiac symptoms.c: age at study.

CPK=Creatine phosphokinase.EMG= Electromyogram.

TABLE 2CARDIOLOGICAL DATA: SIX PATIENTS WITH ATRIOVENTRICULAR HEART BLOCK AND NEUROMUSCULAR DISEASE

Case Sex Age Cardiac Cardiac Electrocardiogram Commentsno. (yr) symptoms enlargement QRS width

(X-ray) (s)

1 M 54 Dizzy spells Nil 0.08 Normal QRSExertional dyspnoeaPalpitations

2 M 80 Syncope Slight 0.14 R. BBB pattern3 M 69 Syncope Nil 0.16 L. BBB pattern4 F 39 Dizzy spells Moderate 0.08 Sinoatrial and a-v block

Palpitations with paroxysmalHeart failure tachycardia

5 M 22 Asymptomatic Nil 0.14 R. BBB and L axisdeviation

6 F 63 Syncope Slight 0.16 R. BBB pattern

BBB: bundle branch block.

block developed eight years after the onset ofmuscle disease. Although he had some exertionaldyspnoea, there was no definite clinical or radio-logical evidence of heart failure and cardiomyo-pathy. The family history was negative.

Neurological examination showed bilateralwasting and weakness of the shoulder girdle mus-culature with winging of the scapulae. The triceps,biceps, and brachioradialis muscles were alsoweak. In the legs, wasting and weakness was distaland confined to the left side. All movements ofthe left foot were weak and foot drop was presentbut there was preservation of muscle bulk andpower in the left extensor digitorum brevis muscle.There was additionally mild weakness of themusculature of the face, neck, and pelvic girdle.Reflexes and sensation were preserved, apart fromloss of the left ankle jerk. Red-green colour blind-ness was found on testing.

CASE 2

M.S., born in 1894, noticed weakness of the rightshoulder while on active service during the firstworld war. The left shoulder was affected 10 yearslater; he then observed thinning of the lower partof the left leg and developed foot drop for whicha toe-spring was provided in 1940. He worked as afarmer until right foot drop developed in 1967 anda second toe-spring was required. Syncopal attacksbegan in 1963. Complete heart block was presentwithout evidence of myocardial involvement. TheStokes-Adams attacks were initially controlled byephedrine but a pacemaker was required in 1974.He is now free of blackouts and leads an indepen-dent life.

There was no relevant family history. His onlyson showed no clinical or electrocardiographicabnormality.

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EXAMINATION There was gross muscle wastingand weakness of the shoulder girdle musculature(Figure (a)) and of the legs below the knee(Figure (b)) with bilateral foot drop. Power andbulk in the right extensor digitorum brevis waspreserved but this muscle was atrophic on the left.Slight pelvic girdle and facial weakness were alsopresent. There was no sensory loss and the re-flexes, except for the ankle jerks, were preserved.

CASE 3

A.M., a man, showed winging of the scapula at aroutine medical examination at the age of 35

u(I

years; symptomatic weakness developed five yearslater. The slow progression of the disorder hasallowed full activity up to the age of 70 years ex-cept for some disability playing golf. Cardiac in-volvement became apparent at the age of 64 yearswith blackouts due to complete heart block.A sister and one daughter were affected by dys-

trophy of scapuloperoneal distribution but alsohad facial weakness. At present neither showsconduction abnormalities on electrocardiography.On examination there was weakness confined to

the shoulder girdle and to the dorsiflexors andevertors of the feet. Sensation was normal and thetendon reflexes were preserved.

I i SKj;. ;'.. X~~~I

FIGURE Case 2. Scapuloperoneal syndrome: (a) wasting of shoulder girdle muscles withwinging of the scapulae; (b) Selective involvement of the distal leg musculature withbilateral foot drop.

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CASE 4

M.C., a woman aged 39 years, presented in thefirst decade of life with a slowly progressive limbgirdle dystrophy and had remained independent upto the time of examination. Cardiac symptoms de-veloped at age 33 years with palpitations, dizzyspells, and heart failure. There was evidence of acardiomyopathy with disease of the sinus nodeand of the peripheral conducting tissues resultingin complete atrioventricular dissociation and sino-atrial disorder.

CASE 5

J.C., a man, presented at the age of 15 years withshort stature and was found later to have ptosis,external ophthalmoplegia, proximal limb weak-ness, ataxia, and retinitis pigmentosa. The cere-brospinal fluid protein was raised (1.2 g/l). Amuscle biopsy showed many 'red-ragged' fibres tobe present, thus confirming the diagnosis of oculo-craniosomatic syndrome. Although he had nocardiac symptoms, serial electrocardiographsshowed evidence of progressive peripheral con-duction defect with evolution from left anteriorhemiblock to bifascicular block and transient com-plete heart block over a period of seven years.There was no evidence of myocardial involvement.It is of interest that his father has unexplained bi-fascicular heart block but no other features ofthe syndrome.

CASE 6

L.E., a 64 year old woman, had the typical clini-cal features of dystrophia myotonica. Cardiacsymptoms occurred three decades after the ap-pearance of neurological symptoms. In addition toStokes-Adams attacks from complete heart block,exertional dyspnoea and cardiomegaly suggestedthat there was also an underlying cardiomyopathy.

DISCUSSION

Neuromuscular disease was found to be a rarecause of atrioventricular heart block, beingpresent in 0.7% of the patients studied. Thepatients formed two groups: the first had ap-parently isolated cardiac conduction disturb-ances, whereas the second group had a diffusecardiomyopathy, with associated damage tothe conducting tissue. The first group con-tained the three patients with a scapuloper-

oneal syndrome and the patient with theoculocraniosomatic syndrome.The three patients affected by the scapulo-

peroneal syndrome showed similar clinicalfeatures: all were men who had developedslowly progressive weakness in adult life butremained active up to 60 years after the onsetof symptoms. In the two cases submitted tobiopsy, a myopathic process was demonstrated.Two cases were sporadic, in the third a positivefamily history was obtained. Cardiac involve-ment became clinically apparent between eightand 50 years after the onset of skeletal musclesymptoms.

Cardiac involvement in the scapuloperonealsyndrome has been described only in recentyears: in a current series (Thomas et al., 1975)the significance of the electrocardiographic ab-normalities that were found was considered tobe uncertain. Three reports describe familiesin which males with a scapuloperoneal syn-drome have developed complete heart block.In the largest study, an X-linked scapuloper-oneal dystrophy became apparent in the firstdecade of life. Sudden death was common inmiddle age and was attributed to cardiacarrest, since heart block was demonstrated infive patients (Rotthauwe et al., 1972). In asecond family with an X-linked scapuloper-oneal dystrophy two brothers developed heartblock before the age of 20 years (Mawatariand Katayama, 1973). In the third family des-cribed, in which two middle-aged brotherswere affected, mixed myopathic and neuro-genic changes were found (Takahashi et al.,1974). Diffuse conduction disturbances havealso been described recently in two familieswith an X-linked humeroperoneal neuromus-cular disease (Waters et al., 1975).

In the oculocraniosomatic syndrome (Olsonet al., 1972), alternatively known as the'opththalmoplegia plus' syndrome (Drachman,1968), cardiac rhythm disturbances are an im-portant cause of morbidity and mortality (Kar-pati et al., 1973; Schneck et al., 1973). Inknown cases, serial electrocardiograms enableasymptomatic progressive intraventricular con-duction disturbances to be recognised beforecomplete heart block develops (Kastor, 1975).Treatment with a cardiac pacemaker is asimple and effective method of preventing syn-

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Neurological associations of chronic heart block

cope and sudden death. Present evidence sug-gests that myocardial function is preserved inthe oculocraniosomatic syndrome. There are

as yet no detailed reports of the cardiac con-

ducting tissues in this disorder but mitochon-drial abnormalities have been found in skeletalmuscle (Olson et al., 1972), cerebellum(Schneck et al., 1973), and eccrine sweat glands(Karpati et al., 1973) and it is tempting tospeculate that similar changes will be found inthe heart.Cardiomyopathy produces a variety of car-

diac conduction disturbances, including atrio-ventricular block. In a review of the literature,Flowers and Horan (1973) found completeheart block in 0.7% of patients with sporadiccardiomyopathy and in 7.0% of a group withfamilial cardiomyopathy. Postmortem studiesof 177 patients with chronic heart block at St.George's Hospital showed a cardiomyopathyin 25 cases; only two of these had neuromus-

cular disease present-namely, dystrophiamyotonica and Friedreich's ataxia (Davies,M. J., 1975, personal communication). Al-though cardiomyopathy has been described inone family with a scapuloperoneal syndrome(Thomas et al., 1972) our three cases had clini-cal evidence of damage localised to the con-

ducting tissues.The most common pathological change in

the heart in chronic atrioventricular block isidiopathic bundle branch fibrosis, thought torepresent the end stage of a number of possibledisease processes in which the conducting tis-sues are damaged selectively (Davies, 1971).The clinical evidence presented in our studysuggests that scapuloperoneal dystrophy andthe oculocraniosomatic syndrome should be in-cluded as possible aetiological factors.

The authors wish to thank Dr Aubrey Leatham.Mr H. Siddons, Dr R. Emanuel, and Dr J. A.Morgan-Hughes for permission to study cases undertheir care and for helpful advice, and Miss JoanHocker for secretarial assistance. A. J. F. was sup-

ported by a grant generously provided by the St.George's Hospital Research Fund.

REFERENCES

Davies, M. J. (1971). Pathology of the ConductingTissue of the Heart. Butterworths: London.

Drachman, D. A. (1968). Ophthalmoplegia plus. Theneuro degenerative disorders associated with pro-gressive external ophthalmoplegia. Archives ofNeurology, 18, 654-674.

Dubowitz, V., and Brooke, M. H. (1973). MuscleBiopsy: a Modern Approach. Saunders: London.

Flowers., N. C., and Horan, L. G. (1973). Electrocar-diographic and vectorcardiographic features of myo-cardial diseases. In Myocardial Diseases, pp. 181-211. Edited by N. 0. Fowler. Grune and Stratton:New York.

Karpati, G., Carpenter, S., Larbrisseau, A., and La-fontaine, R. (1973). The Kearns-Shy syndrome. Amultisystem disease with mitochondrial abnormalitydemonstrated in skeletal muscle and skin. Journalof the Neurological Sciences, 19, 133-151.

Kastor, J. A. (1975). Current concepts: atrio-ventri-cular block (part 1). New England Journal of Medi-cine, 292, 462-465.

Lenegre, J. (1964). Aetiology and pathology of bi-lateral bundle branch block in relation to completeheart block. Progress in Cardiovascular Diseases, 6,409-444.

Mawatari, S., and Katayama, K. (1973). Scapulo-peroneal muscular atrophy with cardiopathy.Archives of Neurology, 28, 55-59.

Olson, W., Engel, W. K., Walsh, G. O., and Einaugler,R. (1972). Oculocraniosomatic neuromusculardisease with 'red-ragged' fibers. Archives of Neuro-logy, 26, 193-211.

Rotthauwe, H. W., Mortier, W., and Beyer, H. (1972).Neuer typ einer recessiv X-chromosomal vererbtenMuskeldystrophie: Scapulo-humero-distale Muskel-dystrophie mit fruhzeitigen Kontrakturen und Herz-rhythmusstorungen. Humangenetik, 16, 181-200.

Schneck, L., Adachi, M., Briet, P., Wolintz, A., andVolk, B. W. (1973). Ophthalmoplegia plus with mor-phological and histochemical studies of cerebellarand muscle tissue. Journal of the Neurological Sci-ences, 19, 37-44.

Takahashi, K., Nakamura, H., and Nakashima, R.(1974). Scapuloperoneal dystrophy associated withneurogenic changes. Journal of the NeurologicalSciences, 23, 575-583.

Thomas, P. K., Calne, D. B., and Elliott, C. F. (1972).X-linked scapuloperoneal syndrome. Journal ofNeurology, Neurosurgery, and Psychiatry, 35,208-215.

Thomas, P. K., Schott, G. D., and Morgan-Hughes,J. A. (1975). Adult onset scapuloperoneal myopathy.Journal of Neurology, Neurosurgery, and Psychiatry,38, 1008-1015.

Waters, D. D., Nutter, D. O., Hopkins, L. C., andDorney, E. R. (1975). Cardiac features of an un-usual X-linked humeroperoneal neuromusculardisease. New England Journal of Medicine, 293,1017-1022.

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