International Journal of Cardiology 181 (2015) 32–34
Contents lists available at ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Disabling myopathy with chorea and noncompaction Josef Finsterer a,⁎, Claudia Stöllberger b a b
Krankenanstalt Rudolfstiftung, Austria 2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Austria
a r t i c l e
i n f o
Article history: Received 24 November 2014 Accepted 25 November 2014 Available online 27 November 2014 Keywords: Cardiomyopathy Non-compaction Myopathy Metabolic Multisystem Creatine-kinase Muscle biopsy
Neuromuscular disorders (NMDs) are frequently associated with cardiac disease. One of the cardiac abnormalities associated with NMDs is left ventricular hypertrabeculation/noncompaction (LVHT) [1]. Among the NMDs, LVHT is most frequently associated with metabolic myopathies [2]. The presence of LVHT thus particularly suggests metabolic myopathy, as in the following case. The patient is a 77 yo Caucasian male, height 170 cm, weight 75 kg, who developed stumbling and slowly progressive weakness and wasting of the lower and upper limbs since age 53 y (1990). Weakness became particularly apparent when climbing stairs or when getting up from the crouch. During hospitalization for diagnostic work-up of muscle weakness at age 63 y he experienced a fall and a right-sided bimalleolar fracture. Neurological exam at that time revealed proximal muscle wasting, weakness of the upper and lower limbs, and reduced tendon reflexes on the lower limbs. Lactate stress testing was abnormal with serum lactate levels of 2.1, 2.7, 2.9, 2.9, and 2.7 mmol/l respectively. Muscle biopsy from the right deltoid muscle revealed only non-specific findings. He had a history of diverticulosis, hyper-CKemia, and hypercholesterolemia (Table 1). Ten years later, also weakness of the left upper limbs developed and he additionally experienced slowly progressive, choreatic movements, initially only of the lower limbs but later also of the upper limbs. At age 68 y (2005) he experienced a bilateral patella fracture after a fall. At age 70 y (2007) paroxysmal atrial fibrillation was recorded during 24 h-Holter monitoring. Echocardiography at age 71 y ⁎ Corresponding author at: Postfach 20, 1180 Vienna, Austria, Europe. E-mail address: fifi[email protected] (J. Finsterer).
http://dx.doi.org/10.1016/j.ijcard.2014.11.204 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
(2008) revealed LVHT. At age 72 y (in 2009) he experienced myocardial infarction and a bare metal stent was placed into the right coronary artery. Since then ECG showed a right bundle branch block (RBBB). At age 73 y (10/2010) he experienced a stent-in stent thrombosis which was successfully reopened by percutaneous transluminal angioplasty (PTA). 24 h-ECG in 11/2010 revealed short ectopic supraventricular runs, two episodes of ventricular bigeminia, and a single ventricular run of 10 s. Echocardiography in 9/2013 revealed an enlarged left atrium, diastolic dysfunction, left ventricular hypertrophy, aortic insufficiency-1, mitral insufficiency-1, tricuspid insufficiency-2, slightly increased pulmonary artery pressure, and a septum aneurysm. Carotid ultrasound revealed non-stenotic plaques exclusively. He had a history of prostate cancer, which was successfully resected without recurrence of the tumor. A second muscle biopsy in 09/2003 showed a mild neurogenic lesion pattern, with normal biochemical investigations of the respiratory chain (Table 2) and normal mitochondria on electron microscopy. For walking he used a stick since 2005. He was neither smoking nor drinking alcohol. His family history was negative for NMD. His mother had died of cancer and his father from stroke. His brother was normal. Since at least 4/2014 exercise intolerance and paresthesias of the soles had developed. Clinical exam at age 77 y (10/2014) revealed mild hypoacusis, tinnitus, downslanting lid fissures, right-sided ptosis, weakness for shoulder abduction (M2), elbow extension (M1), elbow flexion M4-, amputation of dig 1 + 2 on the right side after a trauma, hip flexion M4-, knee extension M0, knee flexion M4-, foot flexion M2, foot extension M5-, reduced Achilles tendon reflexes on the left side, wasting of the thighs, permanent choreatiform hyperkinesias of the legs and occasionally of the upper limbs, and mild postural tremor. He had difficulties getting up from chairs, to walk, and was strongly endangered to fall. Nerve conduction studies in 4/2014 revealed inexcitability of both sural nerves. No acanthocytes were detected on morphological investigations of erythrocytes. Cerebral MRI in 7/2014 revealed single gliotic spots, leukoaraiosis, and bilaterally symmetric T2-hyperintensities in the globus pallidus (Fig. 1). ECG showed a RBBB. Echocardiography in 9/2014 confirmed the previous findings except for the septum aneurysm (Fig. 2). The presented patient is interesting for several aspects. The patient had a NMD and a central nervous system abnormality at the same time. Disorders going along with myopathy and chorea include McLeod syndrome [3], Huntington's disease [4], poly-glutamine disorders [5], paroxysmal choreoathetosis/spasticity due to DYT9 mutations [6], or non-ketotic hyperglycemia [7]. Arguments against these differentials, however, are that the patient did not show acanthocytosis, and that
J. Finsterer, C. Stöllberger / International Journal of Cardiology 181 (2015) 32–34
33
Table 1 Blood chemical results of the described patient. Parameter
RL
9.8.00
8.2.05
17.8.10
3.10.13
9.7.14
30.7.14
CK CK-MB Trop-T GOT GPT GGT Cholesterol Triglycerides Calcium
b 200 U/l 0–24 U/l 0.000–0.014 ng/ml 0–50 U/l 0–50 U/l 0–60 U/l b 200 mg/dl b 200 mg/dl 2.2–2.55 mmol/l
94a 7 nd 10 18 53 263 172 nd
319 23.3 neg. 24 28 100 nd 236 nd
535 26 0.02 38 42 85 263 157 2.49
334 27.1 0.278 72 89 174 nd nd 2.14
nd nd nd nd nd 38 273 125 nd
476 27 0.02 39 42 48 236 142 2.34
Nd: not done. a Upper limit 70 E/l, bold numbers represent abnormal results.
clinical features did not fit with Huntington's disease or the other differentials. He did not have epilepsy and there was no cognitive impairment. Arguments for a metabolic defect include the multisystem nature of his disease, chorea, tremor, hypoacusis, myopathy (ptosis, limb weakness), neuropathy, hyperlipidemia, diverticulosis, a right-sided kidney cyst, LVHT and the other cardiac abnormalities, an enlarged aortic root, mildly elevated pulmonary artery pressure, and the prostate cancer. Chorea has been particularly reported in Leigh-syndrome [8]. The patient had cardiac disease manifesting as arrhythmias (paroxysmal atrial fibrillation, ectopic supraventricular runs, ventricular bigeminia, ventricular runs), RBBB, enlarged left atrium, left ventricular hypertrophy, systolic and diastolic dysfunction, valve abnormalities (aortic insufficiency-1, mitral insufficiency-1, tricuspid insufficiency2), slightly increased pulmonary artery pressure, a septum aneurysm, aortic root distension, and LVHT. LVHT is a cardiac abnormality of which etiology and pathogenesis are unclear [9]. LVHT is frequently associated with chromosomal defects, NMDs, or hereditary cardiomyopathies [10]. In the majority of the cases, LVHT is congenital but rarely, LVHT may develop during adulthood for unclear reasons [11]. LVHT is associated with an increased risk of ventricular arrhythmias, cardiac embolism, or systolic dysfunction [12]. Occasionally, LVHT is familial why other family members should be routinely investigated for LVHT [13]. In the presented patient LVHT was classified as congenital since it was present on previous echocardiographies. Familiarity of LVHT could not be investigated since both parents and his brother had died and since he did not have contact with his children. Since LVHT is more frequent in metabolic myopathies than in other types of NMD [14], detection of LVHT in the presented patient suggested a metabolic myopathy as well [2]. The third point of interest is the patient's movement disorder. He presented not only with positional tremor but had also developed choreatiform hyperkinesias 10 y after onset of myopathy. Though chorea has been occasionally reported in association with NMDs, such as in McLeod syndrome, polyglutamine disorders, chorea-acanthocytosis syndrome [15], Huntington's disease [16], autosomal recessive limbgirdle muscular dystrophy [17], or calpainopathy [3], it is rare in adult patients with a NMD. Since all differentials were excluded upon clinical and blood investigations, movement disorders in the present patient
Table 2 Results of the biochemical investigations of the muscle homogenate in the presented patient. Enzyme activity Related to non-collagen protein Complex I (NADH-CoQ-oxidoreductase) Complex II/III (succinate cyt-c-oxidoreductase) Complex IV (cytochrome-c-oxidase) Related to citrate synthetase Complex I (NADH-CoQ-oxidoreductase) Complex II/III (succinate cyt-c-oxidoreductase) Complex IV (cytochrome-c-oxidase)
Reference limit
Result
12.0–26.4 U/g NCP 6.0–25.0 U/g NCP 112–351 U/g NCP
11.3 8.3 152.0
0.17–0.56 U/U CS 0.08–0.45 U/U CS 1.1–5.0 U/U CS
NCP: non-collagen protein, bold number represent abnormal results.
0.31 0.23 4.2
were attributed to basal ganglia abnormalities as a phenotypic feature of the presumed underlying metabolic defect. Possibly, it was due to coenzyme-Q deficiency, for which he was not tested so far. This case shows that detection of LVHT in a patient with NMD suggests metabolic myopathy. LVHT in multisystem disease suggests a general metabolic defect. Patients with LVHT and their family require comprehensive investigations, including neurologic and cardiologic work-up. Conflict of interests None. References [1] C. Stöllberger, J. Finsterer, G. Blazek, Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders, Am. J. Cardiol. 90 (2002) 899–902. [2] J. Finsterer, Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction, Pediatr. Cardiol. 30 (2009) 659–681. [3] A. Starling, D. Schlesinger, F. Kok, M.R. Passos-Bueno, M. Vainzof, M. Zatz, A family with McLeod syndrome and calpainopathy with clinically overlapping diseases, Neurology 65 (2005) 1832–1833. [4] C.W. Waters, G. Varuzhanyan, R.J. Talmadge, A.A. Voss, Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction, Proc. Natl. Acad. Sci. U. S. A. 110 (2013) 9160–9165. [5] B.A. Margulis, V. Vigont, V.F. Lazarev, E.V. Kaznacheyeva, I.V. Guzhova, Pharmacological protein targets in polyglutamine diseases: mutant polypeptides and their interactors, FEBS Lett. 587 (2013) 1997–2007. [6] Y.G. Weber, C. Kamm, A. Suls, J. Kempfle, K. Kotschet, R. Schüle, T.V. Wuttke, S. Maljevic, J. Liebrich, T. Gasser, A.C. Ludolph, W. Van Paesschen, L. Schöls, P. De Jonghe, G. Auburger, H. Lerche, Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect, Neurology 77 (2011) 959–964. [7] T.C. Vale, S. Freitas Dda, R.O. Maciel, E.C. Miranda, F. Cardoso, Teaching Video NeuroImages: hemichorea-hemiballismus secondary to nonketotic hyperglycemia, Neurology 80 (2013) e178. [8] A. Macaya, F. Munell, R.E. Burke, D.C. De Vivo, Disorders of movement in Leigh syndrome, Neuropediatrics 24 (1993) 60–67. [9] G. Captur, P. Nihoyannopoulos, Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course, Int. J. Cardiol. 140 (2010) 145–153. [10] T.O. Cheng, Left ventricular noncompaction cardiomyopathy: three decades of progress, Int. J. Cardiol. 174 (2014) 227–229. [11] J. Finsterer, C. Stöllberger, Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy, Int. J. Cardiol. 160 (2012) 73–75. [12] C. Stöllberger, G. Blazek, M. Winkler-Dworak, J. Finsterer, Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis, Int. J. Cardiol. 133 (2009) 41–45. [13] J. Finsterer, C. Stöllberger, G. Blazek, E. Sehnal, Familal left ventricular hypertrabeculation (noncompaction) is myopathic, Int. J. Cardiol. 164 (2013) 312–317. [14] J. Finsterer, C. Stöllberger, N. Güler, Non-compaction delineates amyotrophic lateral sclerosis from metabolic myopathy, Int. J. Cardiol. 176 (2014) 277–279. [15] H.H. Jung, A. Danek, R.H. Walker, B.M. Frey, C. Gassner, McLeod neuroacanthocytosis syndromeUpdated 2012 May 17 in: R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.), GeneReviews® [Internet], University of Washington, Seattle, Seattle (WA), Dec 03 2004 (1993–2014. Available from http://www.ncbi.nlm.nih.gov/ books/NBK1354/). [16] C.M. Kosinski, C. Schlangen, F.N. Gellerich, Z. Gizatullina, M. Deschauer, J. Schiefer, A.B. Young, G.B. Landwehrmeyer, K.V. Toyka, B. Sellhaus, K.S. Lindenberg, Myopathy as a first symptom of Huntington's disease in a Marathon runner, Mov. Disord. 22 (2007) 1637–1640. [17] T. Liewluck, Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea, Neurol. India 54 (2006) 445.
34
J. Finsterer, C. Stöllberger / International Journal of Cardiology 181 (2015) 32–34
Fig. 1. Cerebral MRI of the presented patient showing bilateral T2-hyperintensities in the basal ganglia on coronary (upper left) and sagittal (upper right) slices. These abnormalities were T2-hypointense on hemosequences (lower left) suggesting hemosiderin deposition. Some supra-tentorial gliotic spots and mild leucaraiosis were seen on T1-images (lower right).
Fig. 2. Echocardiographic apical 4-chamber view at systole (left) and at diastole (right) showing the hypertrabeculated/noncompacted myocardium in the apex of the left ventricle.
Contents lists available at ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Disabling myopathy with chorea and noncompaction Josef Finsterer a,⁎, Claudia Stöllberger b a b
Krankenanstalt Rudolfstiftung, Austria 2nd Medical Department with Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Austria
a r t i c l e
i n f o
Article history: Received 24 November 2014 Accepted 25 November 2014 Available online 27 November 2014 Keywords: Cardiomyopathy Non-compaction Myopathy Metabolic Multisystem Creatine-kinase Muscle biopsy
Neuromuscular disorders (NMDs) are frequently associated with cardiac disease. One of the cardiac abnormalities associated with NMDs is left ventricular hypertrabeculation/noncompaction (LVHT) [1]. Among the NMDs, LVHT is most frequently associated with metabolic myopathies [2]. The presence of LVHT thus particularly suggests metabolic myopathy, as in the following case. The patient is a 77 yo Caucasian male, height 170 cm, weight 75 kg, who developed stumbling and slowly progressive weakness and wasting of the lower and upper limbs since age 53 y (1990). Weakness became particularly apparent when climbing stairs or when getting up from the crouch. During hospitalization for diagnostic work-up of muscle weakness at age 63 y he experienced a fall and a right-sided bimalleolar fracture. Neurological exam at that time revealed proximal muscle wasting, weakness of the upper and lower limbs, and reduced tendon reflexes on the lower limbs. Lactate stress testing was abnormal with serum lactate levels of 2.1, 2.7, 2.9, 2.9, and 2.7 mmol/l respectively. Muscle biopsy from the right deltoid muscle revealed only non-specific findings. He had a history of diverticulosis, hyper-CKemia, and hypercholesterolemia (Table 1). Ten years later, also weakness of the left upper limbs developed and he additionally experienced slowly progressive, choreatic movements, initially only of the lower limbs but later also of the upper limbs. At age 68 y (2005) he experienced a bilateral patella fracture after a fall. At age 70 y (2007) paroxysmal atrial fibrillation was recorded during 24 h-Holter monitoring. Echocardiography at age 71 y ⁎ Corresponding author at: Postfach 20, 1180 Vienna, Austria, Europe. E-mail address: fifi[email protected] (J. Finsterer).
http://dx.doi.org/10.1016/j.ijcard.2014.11.204 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
(2008) revealed LVHT. At age 72 y (in 2009) he experienced myocardial infarction and a bare metal stent was placed into the right coronary artery. Since then ECG showed a right bundle branch block (RBBB). At age 73 y (10/2010) he experienced a stent-in stent thrombosis which was successfully reopened by percutaneous transluminal angioplasty (PTA). 24 h-ECG in 11/2010 revealed short ectopic supraventricular runs, two episodes of ventricular bigeminia, and a single ventricular run of 10 s. Echocardiography in 9/2013 revealed an enlarged left atrium, diastolic dysfunction, left ventricular hypertrophy, aortic insufficiency-1, mitral insufficiency-1, tricuspid insufficiency-2, slightly increased pulmonary artery pressure, and a septum aneurysm. Carotid ultrasound revealed non-stenotic plaques exclusively. He had a history of prostate cancer, which was successfully resected without recurrence of the tumor. A second muscle biopsy in 09/2003 showed a mild neurogenic lesion pattern, with normal biochemical investigations of the respiratory chain (Table 2) and normal mitochondria on electron microscopy. For walking he used a stick since 2005. He was neither smoking nor drinking alcohol. His family history was negative for NMD. His mother had died of cancer and his father from stroke. His brother was normal. Since at least 4/2014 exercise intolerance and paresthesias of the soles had developed. Clinical exam at age 77 y (10/2014) revealed mild hypoacusis, tinnitus, downslanting lid fissures, right-sided ptosis, weakness for shoulder abduction (M2), elbow extension (M1), elbow flexion M4-, amputation of dig 1 + 2 on the right side after a trauma, hip flexion M4-, knee extension M0, knee flexion M4-, foot flexion M2, foot extension M5-, reduced Achilles tendon reflexes on the left side, wasting of the thighs, permanent choreatiform hyperkinesias of the legs and occasionally of the upper limbs, and mild postural tremor. He had difficulties getting up from chairs, to walk, and was strongly endangered to fall. Nerve conduction studies in 4/2014 revealed inexcitability of both sural nerves. No acanthocytes were detected on morphological investigations of erythrocytes. Cerebral MRI in 7/2014 revealed single gliotic spots, leukoaraiosis, and bilaterally symmetric T2-hyperintensities in the globus pallidus (Fig. 1). ECG showed a RBBB. Echocardiography in 9/2014 confirmed the previous findings except for the septum aneurysm (Fig. 2). The presented patient is interesting for several aspects. The patient had a NMD and a central nervous system abnormality at the same time. Disorders going along with myopathy and chorea include McLeod syndrome [3], Huntington's disease [4], poly-glutamine disorders [5], paroxysmal choreoathetosis/spasticity due to DYT9 mutations [6], or non-ketotic hyperglycemia [7]. Arguments against these differentials, however, are that the patient did not show acanthocytosis, and that
J. Finsterer, C. Stöllberger / International Journal of Cardiology 181 (2015) 32–34
33
Table 1 Blood chemical results of the described patient. Parameter
RL
9.8.00
8.2.05
17.8.10
3.10.13
9.7.14
30.7.14
CK CK-MB Trop-T GOT GPT GGT Cholesterol Triglycerides Calcium
b 200 U/l 0–24 U/l 0.000–0.014 ng/ml 0–50 U/l 0–50 U/l 0–60 U/l b 200 mg/dl b 200 mg/dl 2.2–2.55 mmol/l
94a 7 nd 10 18 53 263 172 nd
319 23.3 neg. 24 28 100 nd 236 nd
535 26 0.02 38 42 85 263 157 2.49
334 27.1 0.278 72 89 174 nd nd 2.14
nd nd nd nd nd 38 273 125 nd
476 27 0.02 39 42 48 236 142 2.34
Nd: not done. a Upper limit 70 E/l, bold numbers represent abnormal results.
clinical features did not fit with Huntington's disease or the other differentials. He did not have epilepsy and there was no cognitive impairment. Arguments for a metabolic defect include the multisystem nature of his disease, chorea, tremor, hypoacusis, myopathy (ptosis, limb weakness), neuropathy, hyperlipidemia, diverticulosis, a right-sided kidney cyst, LVHT and the other cardiac abnormalities, an enlarged aortic root, mildly elevated pulmonary artery pressure, and the prostate cancer. Chorea has been particularly reported in Leigh-syndrome [8]. The patient had cardiac disease manifesting as arrhythmias (paroxysmal atrial fibrillation, ectopic supraventricular runs, ventricular bigeminia, ventricular runs), RBBB, enlarged left atrium, left ventricular hypertrophy, systolic and diastolic dysfunction, valve abnormalities (aortic insufficiency-1, mitral insufficiency-1, tricuspid insufficiency2), slightly increased pulmonary artery pressure, a septum aneurysm, aortic root distension, and LVHT. LVHT is a cardiac abnormality of which etiology and pathogenesis are unclear [9]. LVHT is frequently associated with chromosomal defects, NMDs, or hereditary cardiomyopathies [10]. In the majority of the cases, LVHT is congenital but rarely, LVHT may develop during adulthood for unclear reasons [11]. LVHT is associated with an increased risk of ventricular arrhythmias, cardiac embolism, or systolic dysfunction [12]. Occasionally, LVHT is familial why other family members should be routinely investigated for LVHT [13]. In the presented patient LVHT was classified as congenital since it was present on previous echocardiographies. Familiarity of LVHT could not be investigated since both parents and his brother had died and since he did not have contact with his children. Since LVHT is more frequent in metabolic myopathies than in other types of NMD [14], detection of LVHT in the presented patient suggested a metabolic myopathy as well [2]. The third point of interest is the patient's movement disorder. He presented not only with positional tremor but had also developed choreatiform hyperkinesias 10 y after onset of myopathy. Though chorea has been occasionally reported in association with NMDs, such as in McLeod syndrome, polyglutamine disorders, chorea-acanthocytosis syndrome [15], Huntington's disease [16], autosomal recessive limbgirdle muscular dystrophy [17], or calpainopathy [3], it is rare in adult patients with a NMD. Since all differentials were excluded upon clinical and blood investigations, movement disorders in the present patient
Table 2 Results of the biochemical investigations of the muscle homogenate in the presented patient. Enzyme activity Related to non-collagen protein Complex I (NADH-CoQ-oxidoreductase) Complex II/III (succinate cyt-c-oxidoreductase) Complex IV (cytochrome-c-oxidase) Related to citrate synthetase Complex I (NADH-CoQ-oxidoreductase) Complex II/III (succinate cyt-c-oxidoreductase) Complex IV (cytochrome-c-oxidase)
Reference limit
Result
12.0–26.4 U/g NCP 6.0–25.0 U/g NCP 112–351 U/g NCP
11.3 8.3 152.0
0.17–0.56 U/U CS 0.08–0.45 U/U CS 1.1–5.0 U/U CS
NCP: non-collagen protein, bold number represent abnormal results.
0.31 0.23 4.2
were attributed to basal ganglia abnormalities as a phenotypic feature of the presumed underlying metabolic defect. Possibly, it was due to coenzyme-Q deficiency, for which he was not tested so far. This case shows that detection of LVHT in a patient with NMD suggests metabolic myopathy. LVHT in multisystem disease suggests a general metabolic defect. Patients with LVHT and their family require comprehensive investigations, including neurologic and cardiologic work-up. Conflict of interests None. References [1] C. Stöllberger, J. Finsterer, G. Blazek, Left ventricular hypertrabeculation/ noncompaction and association with additional cardiac abnormalities and neuromuscular disorders, Am. J. Cardiol. 90 (2002) 899–902. [2] J. Finsterer, Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction, Pediatr. Cardiol. 30 (2009) 659–681. [3] A. Starling, D. Schlesinger, F. Kok, M.R. Passos-Bueno, M. Vainzof, M. Zatz, A family with McLeod syndrome and calpainopathy with clinically overlapping diseases, Neurology 65 (2005) 1832–1833. [4] C.W. Waters, G. Varuzhanyan, R.J. Talmadge, A.A. Voss, Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction, Proc. Natl. Acad. Sci. U. S. A. 110 (2013) 9160–9165. [5] B.A. Margulis, V. Vigont, V.F. Lazarev, E.V. Kaznacheyeva, I.V. Guzhova, Pharmacological protein targets in polyglutamine diseases: mutant polypeptides and their interactors, FEBS Lett. 587 (2013) 1997–2007. [6] Y.G. Weber, C. Kamm, A. Suls, J. Kempfle, K. Kotschet, R. Schüle, T.V. Wuttke, S. Maljevic, J. Liebrich, T. Gasser, A.C. Ludolph, W. Van Paesschen, L. Schöls, P. De Jonghe, G. Auburger, H. Lerche, Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect, Neurology 77 (2011) 959–964. [7] T.C. Vale, S. Freitas Dda, R.O. Maciel, E.C. Miranda, F. Cardoso, Teaching Video NeuroImages: hemichorea-hemiballismus secondary to nonketotic hyperglycemia, Neurology 80 (2013) e178. [8] A. Macaya, F. Munell, R.E. Burke, D.C. De Vivo, Disorders of movement in Leigh syndrome, Neuropediatrics 24 (1993) 60–67. [9] G. Captur, P. Nihoyannopoulos, Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course, Int. J. Cardiol. 140 (2010) 145–153. [10] T.O. Cheng, Left ventricular noncompaction cardiomyopathy: three decades of progress, Int. J. Cardiol. 174 (2014) 227–229. [11] J. Finsterer, C. Stöllberger, Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy, Int. J. Cardiol. 160 (2012) 73–75. [12] C. Stöllberger, G. Blazek, M. Winkler-Dworak, J. Finsterer, Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis, Int. J. Cardiol. 133 (2009) 41–45. [13] J. Finsterer, C. Stöllberger, G. Blazek, E. Sehnal, Familal left ventricular hypertrabeculation (noncompaction) is myopathic, Int. J. Cardiol. 164 (2013) 312–317. [14] J. Finsterer, C. Stöllberger, N. Güler, Non-compaction delineates amyotrophic lateral sclerosis from metabolic myopathy, Int. J. Cardiol. 176 (2014) 277–279. [15] H.H. Jung, A. Danek, R.H. Walker, B.M. Frey, C. Gassner, McLeod neuroacanthocytosis syndromeUpdated 2012 May 17 in: R.A. Pagon, M.P. Adam, H.H. Ardinger, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.), GeneReviews® [Internet], University of Washington, Seattle, Seattle (WA), Dec 03 2004 (1993–2014. Available from http://www.ncbi.nlm.nih.gov/ books/NBK1354/). [16] C.M. Kosinski, C. Schlangen, F.N. Gellerich, Z. Gizatullina, M. Deschauer, J. Schiefer, A.B. Young, G.B. Landwehrmeyer, K.V. Toyka, B. Sellhaus, K.S. Lindenberg, Myopathy as a first symptom of Huntington's disease in a Marathon runner, Mov. Disord. 22 (2007) 1637–1640. [17] T. Liewluck, Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea, Neurol. India 54 (2006) 445.
34
J. Finsterer, C. Stöllberger / International Journal of Cardiology 181 (2015) 32–34
Fig. 1. Cerebral MRI of the presented patient showing bilateral T2-hyperintensities in the basal ganglia on coronary (upper left) and sagittal (upper right) slices. These abnormalities were T2-hypointense on hemosequences (lower left) suggesting hemosiderin deposition. Some supra-tentorial gliotic spots and mild leucaraiosis were seen on T1-images (lower right).
Fig. 2. Echocardiographic apical 4-chamber view at systole (left) and at diastole (right) showing the hypertrabeculated/noncompacted myocardium in the apex of the left ventricle.
