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J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.39.6.571 on 1 June 1976. Downloaded from

Journal ofNeurology, Neurosurgery, andPsychiatry, 1976, 39, 571-575

Neurological associations of chronic block

C. D. LAMBERT AND A. J. FAIRFAX From the Departments of Neurology and , St. George's Hospital, London

SYNOPSIS A large group of patients with chronic was studied for evidence of neurological disorder. Six out of 892 patients were found who had neuromuscular disease related to the conduction disturbance. In four patients, cardiac involvement appeared selectively to affect the conducting tissues. Three of these patients had a scapuloperoneal syndrome, the fourth, the oculocraniosomatic syndrome. In the remaining two patients, one with limb girdle dystrophy and the other with dystrophia myotonica, was present in addition to the conduction disturbance.

This paper reports the first comprehensive with incomplete heart block or transient heart study of the frequency and nature of neuro- block secondary to myocardial were not Protected by copyright. logical disorders occurring in association with included. complete heart block. The most common Those cases with evidence of neuromuscular disease were examined in detail, a family history pathological cause of chronic heart block is taken, serum creatine phosphokinase levels meas- idiopathic bundle branch (Davies, ured and, when possible, electromyography per- 1971) thought by Lenegre, who described it, to formed. Muscle biopsy specimens, obtained under be a selective myopathy of the cardiac con- local anaesthetic, were examined using conven- ducting 'tissues (Lenegre, 1964). His original tional morphological and histochemical techniques series of 66 cases contained two patients with (Dubowitz and Brooke, 1973). 'muscular dystrophy of a type difficult to clas- sify.' The aim of this paper was, therefore, to classify the types of neuromuscular disorder RESULTS which occur in patients with complete heart The 892 patients (501 male, 391 female) who block and to find how frequently this associa-

were studied were aged between 2 and 97 years, http://jnnp.bmj.com/ tion accounts for the development of atrio- with a mean of 70 years. Among 675 patients ventricular dissociation in the population at with idiopathic heart block there were six with large. neuromuscular abnormalities considered to be related aetiologically to the development of METHODS their disturbance of cardiac conduction. Three The case records of 892 patients patients had a scapuloperoneal syndrome and with chronic the others had respectively limb girdle dys- complete heart block from the cardiological de- on September 29, 2021 by guest. partments of St. George's Hospital and the trophy, dystrophia myotonica, and the oculo- National Heart Hospital were studied for evidence craniosomatic syndrome (Tables 1 and 2). of neurological abnormality. To confirm that the documentation of the patients was adequate, a random sample of 20% of the total grotip was CASE 1 interviewed and examined personally. Patients A.H., a 54 year old male decorator, noticed weak- ness in his left foot at the age of 39 years; this was followed by weakness of both shoulders. Ten Address for correspondence: Dr C. D. Lambert, Atkinson Morley Hospital, Wimbledon, London SW20 ONE. years later difficulty in rising from a chair became (Accepted 22 January 1976.) evident. Cardiac symptoms from complete heart 571

E J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.39.6.571 on 1 June 1976. Downloaded from

572 C. D. Lambert and A. J. Fairfax

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

Case Sex Family Age (yr) Clinical Serum EMG Muscle no. history ( classification CPK biopsy (a) (b) (c) Iu/I I M - 39 47 54 Scapuloperoneal 17 Myopathic Myopathy dystrophy 2 M - 20s 69 80 Scapuloperoneal 145 - - syndrome 3 M + 35 62 69 Scapuloperoneal 69 Myopathic Myopathy dystrophy 4 F - Child- 33 39 Limb girdle 176 Myopathic Myopathy hood dystrophy 5 M - 15 - 22 Oculocraniosomatic 57 Myopathic Mitochondrial syndrome myopathy 6 F + 20s 59 63 Dystrophia - Myotonia myotonica

a: age onset neurological illness. CPK=Creatine phosphokinase. b: age onset cardiac symptoms. EMG = Electromyogram. c: age at study.

TABLE 2 CARDIOLOGICAL DATA: SIX PATIENTS WITH ATRIOVENTRICULAR HEART BLOCK AND NEUROMUSCULAR DISEASE Protected by copyright. Case Sex Age Cardiac Cardiac Electrocardiogram Comments no. (yr) symptoms enlargement QRS width (X-ray) (s) 1 M 54 Dizzy spells Nil 0.08 Normal QRS Exertional dyspnoea 2 M 80 Slight 0.14 R. BBB pattern 3 M 69 Syncope Nil 0.16 L. BBB pattern 4 F 39 Dizzy spells Moderate 0.08 Sinoatrial and a-v block Palpitations with paroxysmal 5 M 22 Asymptomatic Nil 0.14 R. BBB and L axis deviation 6 F 63 Syncope Slight 0.16 R. BBB pattern

BBB: .

block developed eight years after the onset of CASE 2 http://jnnp.bmj.com/ muscle disease. Although he had some exertional dyspnoea, there was no definite clinical or radio- M.S., born in 1894, noticed weakness of the right logical evidence of heart failure and cardiomyo- shoulder while on active service during the first pathy. The family history was negative. world war. The left shoulder was affected 10 years Neurological examination showed bilateral later; he then observed thinning of the lower part wasting and weakness of the shoulder girdle mus- of the left leg and developed foot drop for which culature with winging of the scapulae. The triceps, a toe-spring was provided in 1940. He worked as a biceps, and brachioradialis muscles were also farmer until right foot drop developed in 1967 and on September 29, 2021 by guest. weak. In the legs, wasting and weakness was distal a second toe-spring was required. Syncopal attacks and confined to the left side. All movements of began in 1963. Complete heart block was present the left foot were weak and foot drop was present without evidence of myocardial involvement. The but there was preservation of muscle bulk and Stokes-Adams attacks were initially controlled by power in the left extensor digitorum brevis muscle. ephedrine but a pacemaker was required in 1974. There was additionally mild weakness of the He is now free of blackouts and leads an indepen- musculature of the face, neck, and pelvic girdle. dent life. Reflexes and sensation were preserved, apart from There was no relevant family history. His only loss of the left ankle jerk. Red-green colour blind- son showed no clinical or electrocardiographic ness was found on testing. abnormality. J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.39.6.571 on 1 June 1976. Downloaded from

Neurological associations of chronic heart block 573

EXAMINATION There was gross muscle wasting years; symptomatic weakness developed five years and weakness of the shoulder girdle musculature later. The slow progression of the disorder has (Figure (a)) and of the legs below the knee allowed full activity up to the age of 70 years ex- (Figure (b)) with bilateral foot drop. Power and cept for some disability playing golf. Cardiac in- bulk in the right extensor digitorum brevis was volvement became apparent at the age of 64 years preserved but this muscle was atrophic on the left. with blackouts due to complete heart block. Slight pelvic girdle and facial weakness were also A sister and one daughter were affected by dys- present. There was no sensory loss and the re- trophy of scapuloperoneal distribution but also flexes, except for the ankle jerks, were preserved. had facial weakness. At present neither shows conduction abnormalities on . On examination there was weakness confined to CASE 3 the shoulder girdle and to the dorsiflexors and A.M., a man, showed winging of the scapula at a evertors of the feet. Sensation was normal and the routine medical examination at the age of 35 tendon reflexes were preserved. Protected by copyright. I iSK http://jnnp.bmj.com/

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u(I FIGURE Case 2. Scapuloperoneal syndrome: (a) wasting of shoulder girdle muscles with winging of the scapulae; (b) Selective involvement of the distal leg musculature with bilateral foot drop. J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.39.6.571 on 1 June 1976. Downloaded from

574 C. D. Lambert and A. J. Fairfax

CASE 4 oneal syndrome and the patient with the M.C., a woman aged 39 years, presented in the oculocraniosomatic syndrome. first decade of life with a slowly progressive limb The three patients affected by the scapulo- girdle dystrophy and had remained independent up peroneal syndrome showed similar clinical to the time of examination. Cardiac symptoms de- features: all were men who had developed veloped at age 33 years with palpitations, dizzy slowly progressive weakness in adult life but spells, and heart failure. There was evidence of a remained active up to 60 years after the onset cardiomyopathy with disease of the sinus node of symptoms. In the two cases submitted to and of the peripheral conducting tissues resulting biopsy, a myopathic process was demonstrated. in complete atrioventricular dissociation and sino- atrial disorder. Two cases were sporadic, in the third a positive family history was obtained. Cardiac involve- ment became clinically apparent between eight CASE 5 and 50 years after the onset of skeletal muscle J.C., a man, presented at the age of 15 years with symptoms. short stature and was found later to have ptosis, Cardiac involvement in the scapuloperoneal external ophthalmoplegia, proximal limb weak- syndrome has been described only in recent ness, ataxia, and retinitis pigmentosa. The cere- years: in a current series (Thomas et al., 1975) brospinal fluid protein was raised (1.2 g/l). A the significance of the electrocardiographic ab- muscle biopsy showed many 'red-ragged' fibres to normalities that were found was considered to be present, thus confirming the diagnosis of oculo- be uncertain. Three reports describe families Protected by copyright. craniosomatic syndrome. Although he had no in which males with a scapuloperoneal syn- cardiac symptoms, serial electrocardiographs drome have developed complete heart block. showed evidence of progressive peripheral con- In the largest study, an X-linked scapuloper- duction defect with evolution from left anterior oneal hemiblock to and transient com- dystrophy became apparent in the first plete heart block over a period of seven years. decade of life. Sudden death was common in There was no evidence of myocardial involvement. middle age and was attributed to cardiac It is of interest that his father has unexplained bi- arrest, since heart block was demonstrated in fascicular heart block but no other features of five patients (Rotthauwe et al., 1972). In a the syndrome. second family with an X-linked scapuloper- oneal dystrophy two brothers developed heart block before the age of 20 years (Mawatari CASE 6 and Katayama, 1973). In the third family des- L.E., a 64 year old woman, had the typical clini- cribed, in which two middle-aged brothers cal features of dystrophia myotonica. Cardiac were affected, mixed myopathic and neuro- http://jnnp.bmj.com/ symptoms occurred three decades after the ap- genic changes were found (Takahashi et al., pearance of neurological symptoms. In addition to 1974). Diffuse conduction disturbances have Stokes-Adams attacks from complete heart block, also been exertional dyspnoea and suggested described recently in two families that there was also an underlying cardiomyopathy. with an X-linked humeroperoneal neuromus- cular disease (Waters et al., 1975). In the oculocraniosomatic syndrome (Olson et al., 1972), alternatively known as the DISCUSSION on September 29, 2021 by guest. 'opththalmoplegia plus' syndrome (Drachman, Neuromuscular disease was found to be a rare 1968), cardiac rhythm disturbances are an im- cause of atrioventricular heart block, being portant cause of morbidity and mortality (Kar- present in 0.7% of the patients studied. The pati et al., 1973; Schneck et al., 1973). In patients formed two groups: the first had ap- known cases, serial electrocardiograms enable parently isolated cardiac conduction disturb- asymptomatic progressive intraventricular con- ances, whereas the second group had a diffuse duction disturbances to be recognised before cardiomyopathy, with associated damage to complete heart block develops (Kastor, 1975). the conducting tissue. The first group con- Treatment with a is a tained the three patients with a scapuloper- simple and effective method of preventing syn- J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.39.6.571 on 1 June 1976. Downloaded from

Neurological associations of chronic heart block 575

The cope and sudden death. Present evidence sug- Drachman, D. A. (1968). Ophthalmoplegia plus. neuro degenerative disorders associated with pro- gests that myocardial function is preserved in gressive external ophthalmoplegia. Archives of the oculocraniosomatic syndrome. There are Neurology, 18, 654-674. as yet no detailed reports of the cardiac con- Dubowitz, V., and Brooke, M. H. (1973). Muscle ducting tissues in this disorder but mitochon- Biopsy: a Modern Approach. Saunders: London. drial abnormalities have been found in skeletal Flowers., N. C., and Horan, L. G. (1973). Electrocar- muscle (Olson et al., 1972), cerebellum diographic and vectorcardiographic features of myo- (Schneck et al., 1973), and eccrine sweat glands cardial diseases. In Myocardial Diseases, pp. 181- and Stratton: (Karpati et al., 1973) and it is tempting to 211. Edited by N. 0. Fowler. Grune speculate that similar changes will be found in New York. Karpati, G., Carpenter, S., Larbrisseau, A., and La- the heart. fontaine, R. (1973). The Kearns-Shy syndrome. A Cardiomyopathy produces a variety of car- multisystem disease with mitochondrial abnormality diac conduction disturbances, including atrio- demonstrated in skeletal muscle and skin. Journal ventricular block. In a review of the literature, of the Neurological Sciences, 19, 133-151. Flowers and Horan (1973) found complete Kastor, J. A. (1975). Current concepts: atrio-ventri- heart block in 0.7% of patients with sporadic cular block (part 1). New England Journal of Medi- 292, 462-465. cardiomyopathy and in 7.0% of a group with cine, familial cardiomyopathy. Postmortem studies Lenegre, J. (1964). Aetiology and pathology of bi- lateral bundle branch block in relation to complete of 177 patients with chronic heart block at St. heart block. Progress in Cardiovascular Diseases, 6,

George's Hospital showed a cardiomyopathy 409-444. Protected by copyright. in 25 cases; only two of these had neuromus- Mawatari, S., and Katayama, K. (1973). Scapulo- cular disease present-namely, dystrophia peroneal muscular atrophy with cardiopathy. myotonica and Friedreich's ataxia (Davies, Archives of Neurology, 28, 55-59. M. J., 1975, personal communication). Al- Olson, W., Engel, W. K., Walsh, G. O., and Einaugler, though cardiomyopathy has been described in R. (1972). Oculocraniosomatic neuromuscular Neuro- one family with a scapuloperoneal syndrome disease with 'red-ragged' fibers. Archives of logy, 26, 193-211. (Thomas et al., 1972) our three cases had clini- cal evidence of damage localised to the con- Rotthauwe, H. W., Mortier, W., and Beyer, H. (1972). Neuer typ einer recessiv X-chromosomal vererbten ducting tissues. Muskeldystrophie: Scapulo-humero-distale Muskel- The most common pathological change in dystrophie mit fruhzeitigen Kontrakturen und Herz- the heart in chronic is rhythmusstorungen. Humangenetik, 16, 181-200. idiopathic bundle branch fibrosis, thought to Schneck, L., Adachi, M., Briet, P., Wolintz, A., and represent the end stage of a number of possible Volk, B. W. (1973). Ophthalmoplegia plus with mor- tis- phological and histochemical studies of cerebellar disease processes in which the conducting http://jnnp.bmj.com/ the Neurological Sci- sues are damaged selectively (Davies, 1971). and muscle tissue. Journal of ences, 19, 37-44. The clinical evidence presented in our study suggests that scapuloperoneal dystrophy and Takahashi, K., Nakamura, H., and Nakashima, R. (1974). Scapuloperoneal dystrophy associated with the oculocraniosomatic syndrome should be in- neurogenic changes. Journal of the Neurological cluded as possible aetiological factors. Sciences, 23, 575-583. Thomas, P. K., Calne, D. B., and Elliott, C. F. (1972). X-linked scapuloperoneal syndrome. Journal of The authors wish to thank Dr Aubrey Leatham. on September 29, 2021 by guest. Mr H. Siddons, Dr R. Emanuel, and Dr J. A. Neurology, Neurosurgery, and Psychiatry, 35, Morgan-Hughes for permission to study cases under 208-215. their care and for helpful advice, and Miss Joan Thomas, P. K., Schott, G. D., and Morgan-Hughes, Hocker for secretarial assistance. A. J. F. was sup- J. A. (1975). Adult onset scapuloperoneal myopathy. ported by a grant generously provided by the St. Journal of Neurology, Neurosurgery, and Psychiatry, George's Hospital Research Fund. 38, 1008-1015. Waters, D. D., Nutter, D. O., Hopkins, L. C., and Dorney, E. R. (1975). Cardiac features of an un- REFERENCES usual X-linked humeroperoneal neuromuscular Davies, M. J. (1971). Pathology of the Conducting disease. New England Journal of Medicine, 293, Tissue of the Heart. Butterworths: London. 1017-1022.