International Journal of Cardiology 174 (2014) e59–e61
Contents lists available at ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Left ventricular hypertrabeculation/noncompaction in an Eritrean war invalid with neuromuscular disease Josef Finsterer a,⁎, Claudia Stöllberger b, Maria Motamen c a b c
Krankenanstalt Rudolfstiftung, Vienna, Austria 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria 3rd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
a r t i c l e
i n f o
Article history: Received 1 April 2014 Accepted 4 April 2014 Available online 13 April 2014 Keywords: Non-compaction Dilative cardiomyopathy Metabolic myopathy Echocardiography Neuromuscular disorder Antipersonnel mine
Left ventricular hypertrabeculation/noncompaction (LVHT) is categorized as an unclassified cardiomyopathy and is characterized by a two-layered left ventricular myocardium distal to the papillary muscles with a thicker noncompacted inner (endocardial) layer and a compacted thinner outer (pericardial) layer [1]. LVHT is complicated by ventricular arrhythmias, stroke/embolism, or heart failure, which is why these patients require close cardiologic surveillance [2]. In more than half of the patients LVHT is associated with a neuromuscular disorder (NMD) or a chromosomal aberration [3]. LVHT has been occasionally reported in African patients [4,5] but never in an Eritrean so far. Here we report an Eritrean war victim with LVHT and a NMD. The patient is a 52 year old Eritrean male, height 158 cm, weight 60 kg, who experienced severe injuries (traumatic amputation of the right proximal upper limb (collum humeri) and the left lower arm, metal splinters in front of the trachea, and burns in the cervical and thoracic area) from the explosion of an antipersonnel mine during the Eritrean independence war against Ethiopia in 1977. In 2008 he immigrated to Austria. His further medical history was positive for diabetes mellitus since 1997 (Table 1), treated with insulin since November
⁎ Corresponding author at: Postfach 20, 1180 Vienna, Austria. Tel.: +43 1 71165 92085; fax: +43 1 4781711. E-mail address: Fifi[email protected] (J. Finsterer).
http://dx.doi.org/10.1016/j.ijcard.2014.04.097 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
2011, pneumonia in 2007 and 2008 and since then chronic obstructive lung disease. Since echocardiography in April 2008 showed reduced systolic function (Table 2) a therapy with metoprolol and enalapril was begun. Coronary angiography at that time was normal. Laboratory investigations revealed hyperlipidemia and hepatitis B; LVHT was first recognized at that time but the diagnosis was “forgotten” during the next years. The further history revealed dilative cardiomyopathy with severely reduced left ventricular systolic function (restrictive filling pattern, fractional shortening 15%, elevated proBNP), mitral insufficiency 1–2, tricuspid insufficiency 1–2, pleural effusions in 2011 (Table 2), renal anemia since December 2011, renal insufficiency since 2012, secondary hyperparathyroidism and metabolic acidosis since September 2012, and arterial hypertension since 2012 (Table 1). In March 2013 duodenal ulcer, helicobacter positive gastritis, and colon diverticulosis were diagnosed. Upon routine echocardiography in November 2012, LVHT was “re-detected” (Fig. 1). He was smoking until December 2011. His family history was positive for diabetes (father, one brother, one sister) but was otherwise normal. Clinical neurologic investigation in December 2012 revealed generally reduced tendon reflexes, diffuse muscle wasting but normal muscle force of all tested muscles. Nerve conduction studies of the right peroneal nerve, the left tibial nerve, and the left sural nerve were all normal. Creatine-kinase was repeatedly normal. Needle EMG of the right anterior tibial muscle showed acute denervation and neurogenic changes. The last medication included acetyl-salicylic acid, metoprolol, ramipril, torasemide, simvastatin, alfacalzidol, insulin, olanzapine, nalbuphine, fenoterol, and pantoprazole. Because of progressive renal insufficiency (Table 1), he was scheduled for continuous, ambulatory peritoneal dialysis (CAPD). Hemodialysis was contraindicated because of the impossibility to implant a shunt on the arms or the lower limbs. The presented patient with generalized wasting and generally reduced tendon reflexes but normal nerve conduction studies is interesting for several aspects. First, he is the first Eritrean described with LVHT. Though LVHT has been repeatedly reported in Africans [4–7], it has not been observed in the Eritrean population so far. Second, LVHT in a patient with bilateral amputation of the arms has also not been described. Whether the trauma or the handicap facilitated the development of cardiac disease remains speculative but cannot be completely excluded. Third, there are indications that the family the patient originates from carries a hereditary disease, which may be associated with LVHT.
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J. Finsterer et al. / International Journal of Cardiology 174 (2014) e59–e61
Table 1 Blood chemical values, which influenced decision making. Parameter (normal range)
21.4.2008
29.7.2008
24.11.2009
24.5.2011
22.11.2011
31.8.2012
16.10.2012
18.4.2013
26.11.2013
3.2.2014
12.3.2014
Glucose (60–100 mg/dl) HbA1c (0–6.0%) Erythrocytes (4.2–5.5 T/l) Hemoglobin (14–17 g/dl) Hematocrit (40–50%) Creatinine (b1.1 mg/dl) GFR (N90 ml/min/1.73 m2) BUN (8–23 mg/dl) Uric acid (3.5–7.0 mg/dl) Amylase (28–100 U/l) Lipase (13–60 U/l) Iron (60–160 μg/dl) NT-proBNP (0–84 ng/l) Parathormone (10–65 pg/ml)
105 7.1 4.72 14.1 41 1.1 77 16 4.7 57 34 nd 151 nd
228 8.2 nd nd nd 1.15 73 18 5.3 nd nd nd 42 nd
185 7.2 4.59 14.7 42 1.22 67 15 5.3 nd nd nd 285 nd
220 6.3 4.13 12.9 38 1.93 39 40 6.0 nd nd nd 100 nd
129 nd 4.2 12.9 39 1.97 38 34 nd nd nd nd 1481 nd
254 7.5 2.57 7.6 22.7 2.67 25 49 6.9 98 52 50 4345 394.3
172 6.9 5.2 15.4 45 2.85 24 45 6.8 97 30 46 nd 365.1
122 8.8 3.53 10.5 30.0 4.88 13 87 8.3 142 57 46 2192 nd
151 nd 3.6 10.3 29.2 5.15 12 80 6.9 134 62 32 4003 481.8
205 nd 3.58 10.2 30.4 5.01 12 77 6.0 Nd 62 39 nd nd
365 nd 3.36 9.7 28.1 4.77 13 74 5.7 Nd 89 51 nd nd
nd: not done, GFR: glomerular filtration rate according to the “modification of diet in renal disease” formula.
Table 2 Echocardiographic findings. Parameter/date
4/08
10/08
09/12
11/12
30.1.13
3/13
29.4.13
24.6.13
11/13
IVSd (mm) LVPWd (mm) IVSs (mm) LVPWs (mm) LVIDd (mm) LVIDs (mm) FS % EF % LA ∅ (mm) AR (mm) AV MV LVHT
nm nm nm nm 52 nm nm 27 47 nm n n Yes
nm nm nm nm nm nm nm 50 nm nm n n No
11 nm nm nm nm nm nm 39 40 32 n MI No
16 14 17 17 57 53 7 27 40 32 n n Yes
13 12 12 16 60 51 16 nm 43 28 n n Yes
nm nm nm nm nm nm nm 28 nm nm n n No
13 16 22 18 49 35 29 nm nm nm n n Yes
12 11 14 14 59 50 15 nm me nm n n Yes
15 13 13 15 54 46 16 ↓ 43 27 n n Yes
AR: aortic root, AV: aortic valve, MV: mitral valve, MI: mitral insufficiency, me: moderately enlarged, nm: not measured, n: normal.
Unfortunately, none of the other family members, particularly those with diabetes, underwent a detailed echocardiographic or neurologic investigation, which is why familial LVHT was not confirmed. The patient also confirms that LVHT may be associated with NMDs. The patient was diagnosed with a NMD because of the clinical presentation (wasting, reduced tendon reflexes). Neuropathy from diabetes or renal insufficiency was excluded because of absent sensory disturbances, involvement of the proximal muscles, the relatively low long-term blood glucose, the ubiquitously reduced tendon reflexes, and the completely normal nerve conduction studies. The neuropathic pattern on needle EMG does not exclude primary muscle disease. A
further argument for a NMD is that LVHT is frequently associated with NMD. A hereditary NMD was assumed since the family history was positive for diabetes and since familial diabetes is frequently associated with NMD [8]. Most likely, the patient suffered from a multisystem metabolic disease involving the muscle, the heart, the gastrointestinal tract, the bone marrow, the endocrine system, and the kidneys. Metabolic myopathy has been previously described in association with LVHT [9, 10]. Metabolic myopathy is frequently associated with involvement of tissues other than the skeletal muscle, in particular the myocardium. Cardiac manifestations of metabolic myopathy may include not only LVHT but also dilative cardiomyopathy [11], hypertrophic
Fig. 1. Echocardiographic apical four-chamber (left) and parasternal short-axis view (right) showing left ventricular hypertrabeculation/noncompaction (right) affecting the left ventricular apex and the lateral wall.
J. Finsterer et al. / International Journal of Cardiology 174 (2014) e59–e61
cardiomyopathy [9], and restrictive cardiomyopathy [12]. Additionally, severe ventricular arrhythmias due to affection of the conduction system may be a cardiac manifestation of such a multisystem metabolic disease. This case shows that LVHT occurs ubiquitously and also in the Eritrean population, that LVHT goes along with dilative cardiomyopathy, and that it can be associated with a NMD. The NMD was suspected after exclusion of neuropathy from diabetes or renal insufficiency upon normal nerve conduction studies. References [1] Almeida AG, Pinto FJ. Non-compaction cardiomyopathy. Heart 2013;99:1535–42. [2] Tian T, Liu Y, Gao L, et al. Isolated left ventricular noncompaction: clinical profile and prognosis in 106 adult patients. Heart Vessels 2014 [in press]. [3] Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 2009;30:659–81. [4] Peters F, Khandheria BK, dos Santos C, et al. Isolated left ventricular noncompaction in Sub-Saharan Africa: a clinical and echocardiographic perspective. Circ Cardiovasc Imaging 2012;5:187–93.
e61
[5] Pessinaba S, Mbaye A, Yabéta GA, et al. A familial form of ventricular non compaction in a mother and two of his sons in St. Louis, Senegal. Ann Cardiol Angeiol (Paris) 2013;62:51–5. [6] Finsterer J, Höftberger R, Stöllberger C, Kanzler M. Metabolic myopathy with noncompaction in an African. Int J Cardiol 2011;151:e58–60. [7] Mipinda JB, Ibaba J, Nkoghe DD, Kombila PA. Family form of isolated left ventricular noncompaction; case of a mother and her son observed in Gabon. Ann Cardiol Angeiol (Paris) 2013;62:56–9. [8] Robberecht K, Decock C, Stevens A, Seneca S, De Bleecker J, Leroy BP. Ptosis as an associated finding in maternally inherited diabetes and deafness. Ophthalmic Genet 2010;31:240–3. [9] Finsterer J, Stöllberger C. Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy. Int J Cardiol 2012;160:73–5. [10] Finsterer J, Stöllberger C. Apical noncompaction in metabolic myopathy may be missed on echocardiography but visible on cardiac MRI or misinterpreted as apical hypokinesia. Int J Cardiol 2012;160:e15–7. [11] Stöllberger C, Höftberger R, Finsterer J. Lamotrigine-trigged obstructive hypertrophic cardiomyopathy, epilepsy and metabolic myopathy. Int J Cardiol 2011;149:e103–5. [12] Finsterer J, Stöllberger C. Pioglitazone-induced heart failure in a patient with restrictive cardiomyopathy and metabolic myopathy. Clin Res Cardiol 2009;98:271–4.
Contents lists available at ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Left ventricular hypertrabeculation/noncompaction in an Eritrean war invalid with neuromuscular disease Josef Finsterer a,⁎, Claudia Stöllberger b, Maria Motamen c a b c
Krankenanstalt Rudolfstiftung, Vienna, Austria 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria 3rd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
a r t i c l e
i n f o
Article history: Received 1 April 2014 Accepted 4 April 2014 Available online 13 April 2014 Keywords: Non-compaction Dilative cardiomyopathy Metabolic myopathy Echocardiography Neuromuscular disorder Antipersonnel mine
Left ventricular hypertrabeculation/noncompaction (LVHT) is categorized as an unclassified cardiomyopathy and is characterized by a two-layered left ventricular myocardium distal to the papillary muscles with a thicker noncompacted inner (endocardial) layer and a compacted thinner outer (pericardial) layer [1]. LVHT is complicated by ventricular arrhythmias, stroke/embolism, or heart failure, which is why these patients require close cardiologic surveillance [2]. In more than half of the patients LVHT is associated with a neuromuscular disorder (NMD) or a chromosomal aberration [3]. LVHT has been occasionally reported in African patients [4,5] but never in an Eritrean so far. Here we report an Eritrean war victim with LVHT and a NMD. The patient is a 52 year old Eritrean male, height 158 cm, weight 60 kg, who experienced severe injuries (traumatic amputation of the right proximal upper limb (collum humeri) and the left lower arm, metal splinters in front of the trachea, and burns in the cervical and thoracic area) from the explosion of an antipersonnel mine during the Eritrean independence war against Ethiopia in 1977. In 2008 he immigrated to Austria. His further medical history was positive for diabetes mellitus since 1997 (Table 1), treated with insulin since November
⁎ Corresponding author at: Postfach 20, 1180 Vienna, Austria. Tel.: +43 1 71165 92085; fax: +43 1 4781711. E-mail address: Fifi[email protected] (J. Finsterer).
http://dx.doi.org/10.1016/j.ijcard.2014.04.097 0167-5273/© 2014 Elsevier Ireland Ltd. All rights reserved.
2011, pneumonia in 2007 and 2008 and since then chronic obstructive lung disease. Since echocardiography in April 2008 showed reduced systolic function (Table 2) a therapy with metoprolol and enalapril was begun. Coronary angiography at that time was normal. Laboratory investigations revealed hyperlipidemia and hepatitis B; LVHT was first recognized at that time but the diagnosis was “forgotten” during the next years. The further history revealed dilative cardiomyopathy with severely reduced left ventricular systolic function (restrictive filling pattern, fractional shortening 15%, elevated proBNP), mitral insufficiency 1–2, tricuspid insufficiency 1–2, pleural effusions in 2011 (Table 2), renal anemia since December 2011, renal insufficiency since 2012, secondary hyperparathyroidism and metabolic acidosis since September 2012, and arterial hypertension since 2012 (Table 1). In March 2013 duodenal ulcer, helicobacter positive gastritis, and colon diverticulosis were diagnosed. Upon routine echocardiography in November 2012, LVHT was “re-detected” (Fig. 1). He was smoking until December 2011. His family history was positive for diabetes (father, one brother, one sister) but was otherwise normal. Clinical neurologic investigation in December 2012 revealed generally reduced tendon reflexes, diffuse muscle wasting but normal muscle force of all tested muscles. Nerve conduction studies of the right peroneal nerve, the left tibial nerve, and the left sural nerve were all normal. Creatine-kinase was repeatedly normal. Needle EMG of the right anterior tibial muscle showed acute denervation and neurogenic changes. The last medication included acetyl-salicylic acid, metoprolol, ramipril, torasemide, simvastatin, alfacalzidol, insulin, olanzapine, nalbuphine, fenoterol, and pantoprazole. Because of progressive renal insufficiency (Table 1), he was scheduled for continuous, ambulatory peritoneal dialysis (CAPD). Hemodialysis was contraindicated because of the impossibility to implant a shunt on the arms or the lower limbs. The presented patient with generalized wasting and generally reduced tendon reflexes but normal nerve conduction studies is interesting for several aspects. First, he is the first Eritrean described with LVHT. Though LVHT has been repeatedly reported in Africans [4–7], it has not been observed in the Eritrean population so far. Second, LVHT in a patient with bilateral amputation of the arms has also not been described. Whether the trauma or the handicap facilitated the development of cardiac disease remains speculative but cannot be completely excluded. Third, there are indications that the family the patient originates from carries a hereditary disease, which may be associated with LVHT.
e60
J. Finsterer et al. / International Journal of Cardiology 174 (2014) e59–e61
Table 1 Blood chemical values, which influenced decision making. Parameter (normal range)
21.4.2008
29.7.2008
24.11.2009
24.5.2011
22.11.2011
31.8.2012
16.10.2012
18.4.2013
26.11.2013
3.2.2014
12.3.2014
Glucose (60–100 mg/dl) HbA1c (0–6.0%) Erythrocytes (4.2–5.5 T/l) Hemoglobin (14–17 g/dl) Hematocrit (40–50%) Creatinine (b1.1 mg/dl) GFR (N90 ml/min/1.73 m2) BUN (8–23 mg/dl) Uric acid (3.5–7.0 mg/dl) Amylase (28–100 U/l) Lipase (13–60 U/l) Iron (60–160 μg/dl) NT-proBNP (0–84 ng/l) Parathormone (10–65 pg/ml)
105 7.1 4.72 14.1 41 1.1 77 16 4.7 57 34 nd 151 nd
228 8.2 nd nd nd 1.15 73 18 5.3 nd nd nd 42 nd
185 7.2 4.59 14.7 42 1.22 67 15 5.3 nd nd nd 285 nd
220 6.3 4.13 12.9 38 1.93 39 40 6.0 nd nd nd 100 nd
129 nd 4.2 12.9 39 1.97 38 34 nd nd nd nd 1481 nd
254 7.5 2.57 7.6 22.7 2.67 25 49 6.9 98 52 50 4345 394.3
172 6.9 5.2 15.4 45 2.85 24 45 6.8 97 30 46 nd 365.1
122 8.8 3.53 10.5 30.0 4.88 13 87 8.3 142 57 46 2192 nd
151 nd 3.6 10.3 29.2 5.15 12 80 6.9 134 62 32 4003 481.8
205 nd 3.58 10.2 30.4 5.01 12 77 6.0 Nd 62 39 nd nd
365 nd 3.36 9.7 28.1 4.77 13 74 5.7 Nd 89 51 nd nd
nd: not done, GFR: glomerular filtration rate according to the “modification of diet in renal disease” formula.
Table 2 Echocardiographic findings. Parameter/date
4/08
10/08
09/12
11/12
30.1.13
3/13
29.4.13
24.6.13
11/13
IVSd (mm) LVPWd (mm) IVSs (mm) LVPWs (mm) LVIDd (mm) LVIDs (mm) FS % EF % LA ∅ (mm) AR (mm) AV MV LVHT
nm nm nm nm 52 nm nm 27 47 nm n n Yes
nm nm nm nm nm nm nm 50 nm nm n n No
11 nm nm nm nm nm nm 39 40 32 n MI No
16 14 17 17 57 53 7 27 40 32 n n Yes
13 12 12 16 60 51 16 nm 43 28 n n Yes
nm nm nm nm nm nm nm 28 nm nm n n No
13 16 22 18 49 35 29 nm nm nm n n Yes
12 11 14 14 59 50 15 nm me nm n n Yes
15 13 13 15 54 46 16 ↓ 43 27 n n Yes
AR: aortic root, AV: aortic valve, MV: mitral valve, MI: mitral insufficiency, me: moderately enlarged, nm: not measured, n: normal.
Unfortunately, none of the other family members, particularly those with diabetes, underwent a detailed echocardiographic or neurologic investigation, which is why familial LVHT was not confirmed. The patient also confirms that LVHT may be associated with NMDs. The patient was diagnosed with a NMD because of the clinical presentation (wasting, reduced tendon reflexes). Neuropathy from diabetes or renal insufficiency was excluded because of absent sensory disturbances, involvement of the proximal muscles, the relatively low long-term blood glucose, the ubiquitously reduced tendon reflexes, and the completely normal nerve conduction studies. The neuropathic pattern on needle EMG does not exclude primary muscle disease. A
further argument for a NMD is that LVHT is frequently associated with NMD. A hereditary NMD was assumed since the family history was positive for diabetes and since familial diabetes is frequently associated with NMD [8]. Most likely, the patient suffered from a multisystem metabolic disease involving the muscle, the heart, the gastrointestinal tract, the bone marrow, the endocrine system, and the kidneys. Metabolic myopathy has been previously described in association with LVHT [9, 10]. Metabolic myopathy is frequently associated with involvement of tissues other than the skeletal muscle, in particular the myocardium. Cardiac manifestations of metabolic myopathy may include not only LVHT but also dilative cardiomyopathy [11], hypertrophic
Fig. 1. Echocardiographic apical four-chamber (left) and parasternal short-axis view (right) showing left ventricular hypertrabeculation/noncompaction (right) affecting the left ventricular apex and the lateral wall.
J. Finsterer et al. / International Journal of Cardiology 174 (2014) e59–e61
cardiomyopathy [9], and restrictive cardiomyopathy [12]. Additionally, severe ventricular arrhythmias due to affection of the conduction system may be a cardiac manifestation of such a multisystem metabolic disease. This case shows that LVHT occurs ubiquitously and also in the Eritrean population, that LVHT goes along with dilative cardiomyopathy, and that it can be associated with a NMD. The NMD was suspected after exclusion of neuropathy from diabetes or renal insufficiency upon normal nerve conduction studies. References [1] Almeida AG, Pinto FJ. Non-compaction cardiomyopathy. Heart 2013;99:1535–42. [2] Tian T, Liu Y, Gao L, et al. Isolated left ventricular noncompaction: clinical profile and prognosis in 106 adult patients. Heart Vessels 2014 [in press]. [3] Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 2009;30:659–81. [4] Peters F, Khandheria BK, dos Santos C, et al. Isolated left ventricular noncompaction in Sub-Saharan Africa: a clinical and echocardiographic perspective. Circ Cardiovasc Imaging 2012;5:187–93.
e61
[5] Pessinaba S, Mbaye A, Yabéta GA, et al. A familial form of ventricular non compaction in a mother and two of his sons in St. Louis, Senegal. Ann Cardiol Angeiol (Paris) 2013;62:51–5. [6] Finsterer J, Höftberger R, Stöllberger C, Kanzler M. Metabolic myopathy with noncompaction in an African. Int J Cardiol 2011;151:e58–60. [7] Mipinda JB, Ibaba J, Nkoghe DD, Kombila PA. Family form of isolated left ventricular noncompaction; case of a mother and her son observed in Gabon. Ann Cardiol Angeiol (Paris) 2013;62:56–9. [8] Robberecht K, Decock C, Stevens A, Seneca S, De Bleecker J, Leroy BP. Ptosis as an associated finding in maternally inherited diabetes and deafness. Ophthalmic Genet 2010;31:240–3. [9] Finsterer J, Stöllberger C. Acquired, familial noncompaction and eccentric hypertrophic cardiomyopathy associated with metabolic myopathy and epilepsy. Int J Cardiol 2012;160:73–5. [10] Finsterer J, Stöllberger C. Apical noncompaction in metabolic myopathy may be missed on echocardiography but visible on cardiac MRI or misinterpreted as apical hypokinesia. Int J Cardiol 2012;160:e15–7. [11] Stöllberger C, Höftberger R, Finsterer J. Lamotrigine-trigged obstructive hypertrophic cardiomyopathy, epilepsy and metabolic myopathy. Int J Cardiol 2011;149:e103–5. [12] Finsterer J, Stöllberger C. Pioglitazone-induced heart failure in a patient with restrictive cardiomyopathy and metabolic myopathy. Clin Res Cardiol 2009;98:271–4.
