Professional Documents
Culture Documents
com
671
SHORT REPORT
M
otor neuron diseases (MND) are a heterogeneous
group of neurodegenerative disorders mainly char-
acterised by selective damage of the central or RESULTS
peripheral motor system, or both. MND may be classified Table 1 outlines the clinical characteristics and demographics
into three groups. The hereditary spastic paraplegias (HSP) of the patients. All patients were negative for superoxide
are characterised by degeneration of the corticospinal tracts,1 dismutase 1 mutation. All patients fulfilled the El Escorial
the spinal muscular atrophies (SMA) marked by degenera- criteria for definite ALS. The HSP patients were spastin
tion of the lower motor neurons,2 and the amyotrophic lateral mutation negative. All patients were alive as of the date of
sclerosis (ALS) caused by degeneration of the corticospinal publication and so therefore cardiac tissue was not available.
tracts as well as the motor neurons within the anterior spinal In the ALS patients three cases had spinal onset and one
horns and the brain stem.3 Cardiac involvement has been patient had bulbar onset disease. All ALS patients were
occasionally described as part of the MND phenotype: cardiac treated with riluzole. None of the ALS patients had a history
denervation attributable to involvement of the sympathetic of cardiac events like myocardial infarction before onset of
nervous system has been described in patients in the early ALS symptoms. Laboratory analysis showed increased activ-
stages of ALS.4 Congenital heart defects have been seen in a ities of serum creatine kinase (CK) in all ALS patients, but
few cases of SMA.57 We now report on four patients with cardiac creatine kinase (CK-MB) was normal in all cases.
definite ALS and two patients with pure HSP in whom Both vastus lateralis muscle biopsies (patient 1 and 2)
cardiomyopathy occurred in the absence of major cardiovas- showed a chronic neurogenic pattern. In patient 2, secondary
cular risk factors or coronary heart disease. myopathic changes were found in addition to a prominent
neurogenic damage. ATPase stainings showed fibre typing in
both cases. No abnormalities were found in oxidative
METHODS stainings and in the biochemical analysis. Electron micro-
Patients scopic investigation showed no structural or storage abnorm-
Patients with cardiac symptoms and echocardiographic alities.
abnormalities were retrospectively ascertained from our
motor neuron outpatient clinic over a two year period.
Abbreviations: ALS, amyotrophic lateral sclerosis; CM,
About 150 patients with MND are screened at this clinic each cardiomyopathy; HSP, hereditary spastic paraparesis; pHSP, pure
year. There are six patients with MND having cardiac hereditary spastic paraparesis; MND, motor neuron disease; SMA,
involvement (four ALS, two HSP). The ALS patients were spinal muscular atrophy
www.jnnp.com
Downloaded from http://jnnp.bmj.com/ on April 25, 2015 - Published by group.bmj.com
672 Gdynia, Kurt, Endruhn, et al
Sex F M F M F F
Age (y)
Recent 65 59 80 66 74 60
At onset of MND 57 55 78 64 15 20
At onset of CM 53 54 76 63 60 55
Site of disease unilateral bilateral unilateral bulbar bilateral bilateral
Onset UL LL LL LL LL
Reflexes q/q norm q/q norm q/q q/q
in all limbs in all limbs in LL in LL
Babinski 2/2 2/+ +/+ +/+ +/+ +/+
Fasciculations ubiquitous ubiquitous ubiquitous UL none none
Sensory
deficits
CK (U/l, 330 380 290 320 norm norm
normal , 100)
LDL-cholesterol (mmol/l, 6.13 7.63 5.56 7.11 5.66 6.78
normal , 4.91)
Echocardiographic findings EF 25%, LVD, GH EF 30%, LVD, GH, EF 23%, GH, EF 40%, LVD, GH EF 39%, LVD , GH EF 43%, LVD, GH,
reduced free wall increased septal wall reduced free wall
thickness thickness, aortal valve thickness
stenosis
ND, neurological disease; CM, cardiomyopathy; LVD, left ventricular dilation; GH, global hypokinesis; UL, upper limb; LL, lower limbs; q/q raised; norm,
normal; +/+, bilateral positive; 2/+ unilateral positive; EF, ejection fraction.
The two autosomal dominant HSP patients had spastic The pathogenetic mechanism leading to a higher incidence
paraplegia of the lower limbs, pyramidal tract signs, and of cardiomyopathy in ALS and HSP patients is not clear. One
bladder and bowel dysfunction. possibility is that hyperlipidaemia contributed to the devel-
Cardiomyopathy was seen in the four ALS and two HSP opment of the cardiomyopathy in these patients. However, in
patients. All patients had dyspnea on minimal exertion and our patients cardiomyopathy was a concomitant feature. The
patients 2 and 3 showed jugular venous distension. ALS patients noticed cardiac symptoms before onset of
Paroxysmal heart palpitations were present in all patients. neurological symptoms, in one case pectanginous pain
Patient 1 (a 65 year old woman with ALS) complained of caused by acute myocardial infarction was the first noticed
acute onset of dyspnea caused by pulmonary oedema. Patient cardial symptom. In this case echocardiography showed
3 (an 80 year old woman with ALS) presented with aortal valve stenosis. One patient showed two cardiovascular
pectanginous pain caused by acute myocardial infarction risk factors, in the other cases isolated hyperlipoproteinaemia
and reduced ejection fraction. All six patients showed was found. Treadmill electrocardiography found no evidence
increased LDL-cholesterol and one patient had mild hyper- for ischaemic disease in all cases. Family and personal history
tension (,140/90 mm Hg) that did not require treatment. showed no cardiovascular and heart diseases in all patients.
Electrocardiography showed previous myocardial infarction Muscle biopsy showed a regular pattern in the oxidative
in patient 3 and non-specific repolarisation abnormalities stainings, no signs of cytocrome-c-oxidase deficiency or
were observed in all patients without evidence for previous mitochondrial disorder.
silent myocardial infarctions. Echocardiography showed We found six patients with cardiomyopathy in a popula-
dilated cardiomyopathy in five cases and hypertrophic- tion of about 300 patients with MND, the reported annual
obstructive form in patient 3. In all cases left ventricular incidence of dilated cardiomyopathy varies between five and
failure with reduced ejection fraction and global ventricular eight cases per 100 000 population, depending on the
hyopkinesis were seen. Treadmill electrocardiography diagnostic criteria used.13 Based on our data, we hypothesise
showed no evidence for ischaemic heart disease in any of that cardiomyopathy is underdiagnosed in the ALS popula-
the patients; coronary angiography did not show structural tion, possibly because symptoms are masked by the patients
abnormalities in patients 1 and 2. inability to exert themselves. We believe that in all MND
patients a routine cardiological evaluation should be
performed, including yearly echocardiography.
DISCUSSION
In this study we report a case series of six MND patients with ACKNOWLEDGEMENTS
idiopathic cardiomyopathy that could not be explained by We thank Helga Mogel for preparing the stainings.
coronary heart disease, myocarditis, or other aetiology.8 There
.....................
are few reports of cardiac involvement occurring in patients
with either ALS or SMA. One 75 year old woman with ALS Authors affiliations
H-J Gdynia, A Kurt, S Endruhn, A C Ludolph, A-D Sperfeld, University
developed postoperative Takotsubo cardiomyopathy,9 of Ulm, Department of Neurology, Oberer Eselsberg, Ulm, Germany
defined as a reversible left ventricular dysfunction with wall
motion abnormalities with apical akinesis and basal hyper- Funding: none
kinesis.10 Dysfunction of the sympathetic nervous system Competing interests: none declared
influencing the cardiac function has been described in ALS.4
Congenital heart defects are known to occur in SMA.57 Correspondence to: Dr H-J Gdynia, University of Ulm, Department of
Neurology, Oberer Eselsberg 45, 89081 Ulm, Germany; hans-juergen.
Furthermore, hypertrophic cardiomyopathy was described
gdynia@uni-ulm.de
in a patient with a SMA-like syndrome attributable to
cytocrome-c-oxidase deficiency in skeletal muscle.11 12 In Received 19 August 2005
contrast, cardiac involvement has not been previously In revised form 16 December 2005
described in HSP. Accepted 19 December 2005
www.jnnp.com
Downloaded from http://jnnp.bmj.com/ on April 25, 2015 - Published by group.bmj.com
Cardiomyopathy in motor neuron diseases 673
NEUROLOGICAL PICTURE . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
doi: 10.1136/jnnp.2005.081422
Temporal arteritis or phlebitis?
A
75 year old woman came to us with a 2 day history of Neurologists immediately suspect temporal arteritis when
pain in the right temple on combing her hair. On elderly patients complain of scalp pain on touch. However,
examination, a thin walled, dilated tortuous vessel was this case demonstrates the unusual occurrence of a temporal
seen on the right temple with a tender 20 mm cord along the phlebitis simulating temporal arteritis.
course of the vessel, under the hairline. She also had
enophthalmos and ptosis in the right eye. On questioning,
she acknowledged that the tortous vessel had been visible for B V Maramattom
the last few years. Her ESR was 15 mm/hour. Contrast Department of Neurology, Lourdes Hospital, Kochi, Kerala, India
enhanced computed tomography (CT) of the orbit showed a
Correspondence to: Dr B V Maramattom, Department of Neurology,
right orbital venous angioma extending onto the scalp. The Lourdes HospitalKochi, Kerala, India; bobvarkey@gmail.com
acute scalp pain was probably due to thrombosis of the
extracranial draining vein. Competing interests: none declared
Figure 1 (A) Clinical picture showing distended and tortuous temporal vein; (B) CT orbit showing venous angioma situated in the right orbit. Informed
consent was obtained for publication of this figure.
www.jnnp.com
Downloaded from http://jnnp.bmj.com/ on April 25, 2015 - Published by group.bmj.com
These include:
References This article cites 13 articles, 3 of which you can access for free at:
http://jnnp.bmj.com/content/77/5/671#BIBL
Email alerting Receive free email alerts when new articles cite this article. Sign up in the
service box at the top right corner of the online article.
Notes