- Email: [email protected]
Wolff–Parkinson–White syndrome in Duchenne muscular dystrophy
International Journal of Cardiology 167 (2013) e53–e54
Contents lists available at SciVerse ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Wolff–Parkinson–White syndrome in Duchenne muscular dystrophy Abdallah Fayssoil a,⁎, Walid Amara b, Djillali Annane a, David Orlikowski a a b
Réanimation médicale et pole ventilation à domicile, CHU Raymond Poincaré, Garches, France Unité de Rythmologie, GHI Le Raincy-Montfermeil, France
a r t i c l e
i n f o
Article history: Received 3 January 2013 Accepted 29 March 2013 Available online 30 April 2013 Keywords: WPW Duchenne muscular dystrophy Dystrophin
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The heart is classically involved leading to heart failure [1]. We report a case of Wolff–Parkinson–White syndrome in a DMD patient. A 26 year old patient with DMD was admitted in our unit for routine respiratory evaluation because of respiratory insufficiency. Diagnosis was made in the childhood by genetic analysis, which found deletion exon 8–11 (dystrophin gene). His past medical history was pertinent for scoliosis and home ventilation for respiratory insufficiency. He had no cardiovascular risks factors. On admission, body temperature was 37 °C, blood pressure was 130/85 mm Hg, and heart rate was 60 bpm. Oxygen saturation was 92% with non-invasive mechanical ventilation. Chest X-ray was normal. Blood count and electrolytes were normal. Electrocardiogram (ECG) showed sinus rhythm with short PR interval, delta wave, and wide QRS complex (Fig. 1). The delta wave was positive in the precordial leads and in the lateral leads, and was negative in the inferior leads evoking a left postero-septal accessory pathway. Echocardiography showed normal left ventricular ejection fraction (55%) with normal left ventricular end diastolic diameter (37 mm). For this patient on home ventilation for respiratory insufficiency without symptomatic tachycardia, the medical team decided to not perform an electrophysiological study, although the usual strategy is to perform this exploration to assess the risk of sudden cardiac death. DMD is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. Heart failure is a classical complication in this disease. Conduction abnormities has been reported [1]. ECG abnormalities are classical with wide R waves in the right precordial leads, increase in the R/S ratio and Q waves in aVL, V5, and V6 because of posterior wall involvement. Wolff–Parkinson–White syndrome has been reported in Becker disease [2]. We report the first case of Wolff–Parkinson–White syndrome ⁎ Corresponding author. E-mail address: [email protected] (A. Fayssoil). 0167-5273/$ – see front matter © 2013 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ijcard.2013.03.140
in DMD. Dystrophin is a sarcolemmal protein that links actin to extracellular matrix [3]. Normally, dystrophin is expressed in the heart and skeletal muscles. Deficiency in dystrophin leads to breakdown of muscle membrane. This process leads to weak muscles. Electrophysiological abnormalities including shorter PR intervals have been reported in mdx (5cv) mice, a model of DMD [4]. An association between Wolff– Parkinson–White syndrome and DMD is possible as it has been described for cardiomyopathies. Hence, ventricular preexcitation has been described in structural congenital heart disease [5] but also in cardiomyopathy patients [6]. Several gene mutations have been associated with ventricular preexcitation, including PRKAG2 [7] and AMPK [8]. Most of these cardiomyopathies appear to be hypertrophic and progressive. However in the case of hypertrophic cardiomyopathy associated with preexcitation, the hypertrophy seems to be secondary to intracellular accumulation of glycogen [8]. Finally, in this case the medical team decided to not perform an electrophysiological study in this patient on home-ventilation free of symptomatic tachycardias. However, the usual strategy in an asymptomatic patient is to assess the accessory pathway anterograde characteristics by non-invasive testing (Holter ECG performed in this case, and exercise stress test impossible to perform in this case). Inability to demonstrate absolute loss of preexcitation warrants consideration for more invasive EP testing. The authors comply with the Principles of Ethical Publishing in the International Journal of Cardiology. References [1] Finsterer J, Stöllberger C. Cardiac involvement in Becker muscular dystrophy. Can J Cardiol Oct 2008;24(10):786–92. [2] Romfh A, McNally EM. Cardiac assessment in Duchenne and Becker muscular dystrophies. Curr Heart Fail Rep Dec 2010;7(4):212–8. [3] Fayssoil A, Orlikowski D, Nardi O, Annane D. Complete atrioventricular block in Duchenne muscular dystrophy. Europace Nov 2008;10(11):1351–2. [4] Branco DM, Wolf CM, Sherwood M, Hammer PE, Kang PB, Berul CI. Cardiac electrophysiological characteristics of the mdx (5cv) mouse model of Duchenne muscular dystrophy. J Interv Card Electrophysiol Nov 2007;20(1–2):1–7. [5] Deal BJ, Keane JF, Gillette PC, Garson Jr A. Wolff–Parkinson–White syndrome and supraventricular tachycardia during infancy: management and follow-up. J Am Coll Cardiol 1985;5:130–5. [6] Ghosh S, Avari JN, Rhee EK, Woodward PK, Rudy Y. Hypertrophic cardiomyopathy with preexcitation: insights from non invasive electrocardiographic imaging and catheter mapping. J Cardiovasc Electrophysiol 2008;19:1215–7. [7] Gollob MH, Seger JJ, Gollob TN, et al. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation 2001;104:3030–3. [8] Murphy RT, Mogensen J, McGarry K, et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff–Parkinson–White syndrome: natural history. J Am Coll Cardiol 2005;45:922–30.
e54
A. Fayssoil et al. / International Journal of Cardiology 167 (2013) e53–e54
Fig. 1. ECG. Sinus rhythm with short PR interval, delta wave and wide QRS complex. Delta wave positive in the precordial leads, in the lateral leads and negative in the inferior leads evoking a left postero-septal accessory pathway.
Contents lists available at SciVerse ScienceDirect
International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard
Letter to the Editor
Wolff–Parkinson–White syndrome in Duchenne muscular dystrophy Abdallah Fayssoil a,⁎, Walid Amara b, Djillali Annane a, David Orlikowski a a b
Réanimation médicale et pole ventilation à domicile, CHU Raymond Poincaré, Garches, France Unité de Rythmologie, GHI Le Raincy-Montfermeil, France
a r t i c l e
i n f o
Article history: Received 3 January 2013 Accepted 29 March 2013 Available online 30 April 2013 Keywords: WPW Duchenne muscular dystrophy Dystrophin
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The heart is classically involved leading to heart failure [1]. We report a case of Wolff–Parkinson–White syndrome in a DMD patient. A 26 year old patient with DMD was admitted in our unit for routine respiratory evaluation because of respiratory insufficiency. Diagnosis was made in the childhood by genetic analysis, which found deletion exon 8–11 (dystrophin gene). His past medical history was pertinent for scoliosis and home ventilation for respiratory insufficiency. He had no cardiovascular risks factors. On admission, body temperature was 37 °C, blood pressure was 130/85 mm Hg, and heart rate was 60 bpm. Oxygen saturation was 92% with non-invasive mechanical ventilation. Chest X-ray was normal. Blood count and electrolytes were normal. Electrocardiogram (ECG) showed sinus rhythm with short PR interval, delta wave, and wide QRS complex (Fig. 1). The delta wave was positive in the precordial leads and in the lateral leads, and was negative in the inferior leads evoking a left postero-septal accessory pathway. Echocardiography showed normal left ventricular ejection fraction (55%) with normal left ventricular end diastolic diameter (37 mm). For this patient on home ventilation for respiratory insufficiency without symptomatic tachycardia, the medical team decided to not perform an electrophysiological study, although the usual strategy is to perform this exploration to assess the risk of sudden cardiac death. DMD is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. Heart failure is a classical complication in this disease. Conduction abnormities has been reported [1]. ECG abnormalities are classical with wide R waves in the right precordial leads, increase in the R/S ratio and Q waves in aVL, V5, and V6 because of posterior wall involvement. Wolff–Parkinson–White syndrome has been reported in Becker disease [2]. We report the first case of Wolff–Parkinson–White syndrome ⁎ Corresponding author. E-mail address: [email protected] (A. Fayssoil). 0167-5273/$ – see front matter © 2013 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.ijcard.2013.03.140
in DMD. Dystrophin is a sarcolemmal protein that links actin to extracellular matrix [3]. Normally, dystrophin is expressed in the heart and skeletal muscles. Deficiency in dystrophin leads to breakdown of muscle membrane. This process leads to weak muscles. Electrophysiological abnormalities including shorter PR intervals have been reported in mdx (5cv) mice, a model of DMD [4]. An association between Wolff– Parkinson–White syndrome and DMD is possible as it has been described for cardiomyopathies. Hence, ventricular preexcitation has been described in structural congenital heart disease [5] but also in cardiomyopathy patients [6]. Several gene mutations have been associated with ventricular preexcitation, including PRKAG2 [7] and AMPK [8]. Most of these cardiomyopathies appear to be hypertrophic and progressive. However in the case of hypertrophic cardiomyopathy associated with preexcitation, the hypertrophy seems to be secondary to intracellular accumulation of glycogen [8]. Finally, in this case the medical team decided to not perform an electrophysiological study in this patient on home-ventilation free of symptomatic tachycardias. However, the usual strategy in an asymptomatic patient is to assess the accessory pathway anterograde characteristics by non-invasive testing (Holter ECG performed in this case, and exercise stress test impossible to perform in this case). Inability to demonstrate absolute loss of preexcitation warrants consideration for more invasive EP testing. The authors comply with the Principles of Ethical Publishing in the International Journal of Cardiology. References [1] Finsterer J, Stöllberger C. Cardiac involvement in Becker muscular dystrophy. Can J Cardiol Oct 2008;24(10):786–92. [2] Romfh A, McNally EM. Cardiac assessment in Duchenne and Becker muscular dystrophies. Curr Heart Fail Rep Dec 2010;7(4):212–8. [3] Fayssoil A, Orlikowski D, Nardi O, Annane D. Complete atrioventricular block in Duchenne muscular dystrophy. Europace Nov 2008;10(11):1351–2. [4] Branco DM, Wolf CM, Sherwood M, Hammer PE, Kang PB, Berul CI. Cardiac electrophysiological characteristics of the mdx (5cv) mouse model of Duchenne muscular dystrophy. J Interv Card Electrophysiol Nov 2007;20(1–2):1–7. [5] Deal BJ, Keane JF, Gillette PC, Garson Jr A. Wolff–Parkinson–White syndrome and supraventricular tachycardia during infancy: management and follow-up. J Am Coll Cardiol 1985;5:130–5. [6] Ghosh S, Avari JN, Rhee EK, Woodward PK, Rudy Y. Hypertrophic cardiomyopathy with preexcitation: insights from non invasive electrocardiographic imaging and catheter mapping. J Cardiovasc Electrophysiol 2008;19:1215–7. [7] Gollob MH, Seger JJ, Gollob TN, et al. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation 2001;104:3030–3. [8] Murphy RT, Mogensen J, McGarry K, et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff–Parkinson–White syndrome: natural history. J Am Coll Cardiol 2005;45:922–30.
e54
A. Fayssoil et al. / International Journal of Cardiology 167 (2013) e53–e54
Fig. 1. ECG. Sinus rhythm with short PR interval, delta wave and wide QRS complex. Delta wave positive in the precordial leads, in the lateral leads and negative in the inferior leads evoking a left postero-septal accessory pathway.