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The Relationship Between Carpal Tunnel Syndrome and Cardiac Involvement in Patients with Mucopolysaccharidosis

Yıl 2024, Cilt: 34 Sayı: 5, 733 - 739, 31.10.2024
https://doi.org/10.54005/geneltip.1519915

Öz

Background / Aims: Mucopolysaccharidoses (MPSs) are a group of progressive multisystemic diseases, and it is unknown whether there is a relationship between these system involvements. In this study, we aimed to investigate whether there is a relationship between cardiac involvement and carpal tunnel syndrome (CTS) in MPS patients.
Methods: The study was conducted between May 12, 2023, and June 30, 2024, as a prospective study with a retrospective onset. Patients between the ages of 2 and 20 years who were diagnosed with MPS Types I, II, IV A, and VI enzymatically and genetically and who underwent electromyography for CTS screening and transthoracic echocardiography for cardiac involvement were included in the study.
Results: Twenty-six MPS patients were included in the study. The mean age of the patients was 128±58 months. There was cardiac involvement in 21 (80.8%) of the patients. Heart valve involvement was present in 20 (76.9%) patients. Our study found that 14 (53.8%) of our MPS patients had CTS. CTS was present in all patients in the MPS type I, II, and VI groups but not in any MPS type IV A patients. As a result of the statistical analysis, the presence of MPS Type IV A was statistically significantly higher in the group without CTS than in the group with CTS (p<0.001). The presence of cardiac involvement, combined involvement of the aortic and mitral valves, and the severity of heart valve involvement were found to be statistically significantly higher in the patient group with CTS than in the patient group without CTS (p=0.007, p=0.005, p=0.009, respectively).
Conclusions: Our study found that CTS was more common in patients with cardiac involvement, especially heart valve involvement. We recommend that CTS screening be performed, especially in MPS patients with cardiac involvement.

Etik Beyan

The study was conducted according to the guidelines of the Declaration of Helsinki and approved by Selçuk University Faculty of Medicine Local Ethics Committee (Decision No: 2023/302, Date: 06/06/2023).

Kaynakça

  • Patel P, Antoniou G, Clark D, Ketteridge D, Williams N. Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis. J Child Neurol. 2020;35(6):410-417. doi:10.1177/0883073820904481
  • van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis. 2011;34(3):657-669. doi:10.1007/s10545-011-9304-x
  • Parini R, Deodato F. Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations. Int J Mol Sci. 2020;21(8):2975. Published 2020 Apr 23. doi:10.3390/ijms21082975
  • Michaud M, Belmatoug N, Catros F, et al. Mucopolysaccharidoses: quand y penser ? [Mucopolysaccharidosis: A review]. Rev Med Interne. 2020;41(3):180-188. doi: 10.1016/j.revmed.2019.11.010
  • Nørmark MB, Kjaer N, Lund AM. Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS. JIMD Rep. 2017; 36:29-33. doi:10.1007/8904_2016_32
  • Jadhav TM, Kornberg AJ, Peters H, et al. Carpal tunnel syndrome in pediatric mucopolysaccharidoses. Journal of the International Child Neurology Association. 2015; 1:1. https://doi.org/10.17724/jicna.2015.101.
  • Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239. doi:10.1542/peds.2008-0999
  • Viskochil D, Muenzer J, Guffon N, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017;59(12):1269-1275. doi:10.1111/dmcn.13545
  • Martín-Juste P, Parada-Avendaño I, Gómez-Palacio VE, Gil-Albarova J. Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report. Childs Nerv Syst. 2022;38(8):1651-1653. doi:10.1007/s00381-022-05492-w
  • Yuen A, Dowling G, Johnstone B, Kornberg A, Coombs C. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol. 2007 Mar;22(3):260-3. doi: 10.1177/0883073807300528. PMID: 17621494
  • White K, Kim T, Neufeld JA. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):57-62. doi: 10.3233/PRM-2010-0103. PMID: 21791830.
  • Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8
  • Ryan CS, Conlee EM, Sharma R, Sorenson EJ, Boon AJ, Laughlin RS. Nerve conduction normal values for electrodiagnosis in pediatric patients. Muscle Nerve. 2019 Aug;60(2):155-160. doi: 10.1002/mus.26499. Epub 2019 May 11. PMID: 31032944
  • Boffi L, Russo P, Limongelli G. Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. Ital J Pediatr. 2018;44(Suppl 2):122. Published 2018 Nov 16. doi:10.1186/s13052-018-0560-3.
  • Fesslová V, Corti P, Sersale G, et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young. 2009;19(2):170-178. doi:10.1017/S1047951109003576
  • Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jüngst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr. 1995;154(2):98-101. doi:10.1007/BF01991908
  • Braunlin E, Orchard PJ, Whitley CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol. 2014;23(3):145-151. doi:10.1016/j.carpath.2014.01.001
  • Ayuna A, Stepien KM, Hendriksz CJ, Balerdi M, Garg A, Woolfson P. Cardiac rhythm abnormalities- An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses. Mol Genet Metab. 2020;130(2):133-139. doi:10.1016/j.ymgme.2020.03.005
  • Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr. 1998;157(7):534-538. doi:10.1007/s004310050872
  • Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010;33(4):421-427. doi:10.1007/s10545-010-9113-7
  • Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology. 2002;98(1-2):18-20. doi:10.1159/000064674
  • Papakonstantinou E, Karakiulakis G. The 'sweet' and 'bitter' involvement of glycosaminoglycans in lung diseases: pharmacotherapeutic relevance. Br J Pharmacol. 2009;157(7):1111-1127. doi:10.1111/j.1476-5381.2009.00279.x
  • Gewitz MH, Baltimore RS, Tani LY, et al. Revision of the Jones Criteria for the diagnosis of acute rheumatic fever in the era of Doppler echocardiography: a scientific statement from the American Heart Association [published correction appears in Circulation. 2020 Jul 28;142(4):e65. doi: 10.1161/CIR.0000000000000889]. Circulation. 2015;131(20):1806-1818. doi:10.1161/CIR.0000000000000205
  • Nappi F, Spadaccio C, Moon MR. A management framework for left sided endocarditis: a narrative review. Ann Transl Med. 2020 Dec;8(23):1627. doi: 10.21037/atm-20-4439. PMID: 33437826; PMCID: PMC7791223
  • Shmueli H, Thomas F, Flint N, Setia G, Janjic A, Siegel RJ. Right-Sided Infective Endocarditis 2020: Challenges and Updates in Diagnosis and Treatment. J Am Heart Assoc. 2020;9(15):e017293. doi:10.1161/JAHA.120.017293
  • Sherwood DJ, Adams MC, Mazzella AJ, Abid A, Prasada S, Muenzer J, Johnson SM, Yeung M. Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement. JACC Case Rep. 2021 Dec 15;3(18):1891-1894. doi: 10.1016/j.jaccas.2021.10.013. PMID: 34984346; PMCID: PMC8693276
  • Wipperman J, Goerl K. Carpal Tunnel Syndrome: Diagnosis and Management. Am Fam Physician. 2016;94(12):993-999.
  • Padua L, Cuccagna C, Giovannini S, et al. Carpal tunnel syndrome: updated evidence and new questions. Lancet Neurol. 2023;22(3):255-267. doi:10.1016/S1474-4422(22)00432-X
  • Koç Yekedüz M, Köse E, İnci A, et al. Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?. Pediatr Neurol. 2024; 155:171-176. doi:10.1016/j.pediatrneurol.2024.03.032
  • Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis. Dev Med Child Neurol. 2016;58(11):1172-1179. doi:10.1111/dmcn.13127

Mukopolisakkaridozlu Hastalarda Karpal Tünel Sendromu ile Kardiyak Tutulumun İlişkisi

Yıl 2024, Cilt: 34 Sayı: 5, 733 - 739, 31.10.2024
https://doi.org/10.54005/geneltip.1519915

Öz

Giriş / Amaç: Mukopolisakkaridozlar (MPS) progresif, multisistemik tutulumla giden bir hastalık grubudur ve bu sistem tutulumları arasında bir ilişki olup olmadığı bilinmemektedir. Bu çalışmada, MPS hastalarında kardiyak tutulum ile karpal tünel sendromu (KTS) arasında ilişki olup olmadığını araştırmayı amaçladık.
Yöntem: Çalışma, 12 Mayıs 2023 ile 30 Haziran 2024 tarihleri arasında, retrospektif başlangıçlı prospektif bir çalışma olarak gerçekleştirildi. MPS Tip I, II, IV A ve VI tanısı enzimatik ve genetik olarak konulmuş olan, KTS taraması için elektromiyografi ve kardiyak tutulum açısından transtorasik ekokardiyografi tetkiki yapılan 2-20 yaş arası hastalar çalışmaya alındı.
Bulgular: Çalışmaya 26 MPS hastası dahil edildi. Hastaların yaş ortalamaları 128±58 ay idi. Hastaların 21 (% 80.8)’inde kardiyak tutulum mevcuttu. Kalp kapak tutulumu hastaların 20 (%76.9)’sinde mevcuttu. Çalışmamızda MPS hastalarımızın 14 (%53.8)’ünde KTS olduğunu tespit ettik. KTS, MPS tip I, II ve VI hastalarının tamamında vardı, MPS tip IV A hastalarının ise hiçbirinde yoktu. Yapılan istatistiksel analizler sonucunda, MPS Tip IV A olma durumu KTS olmayan grupta, KTS olan gruba göre istatistiksel olarak anlamlı derecede yüksekti (p<0.001). Kardiyak tutulum varlığı, aort ve mitral kapakların birlikte tutulumu ve kalp kapak tutulum şiddeti, KTS olan grupta KTS olmayan gruba göre istatistiksel olarak anlamlı derecede yüksek saptandı (sırasıyla, p=0.007, p=0.005, p=0.009).
Sonuç: Çalışmamızda, kalp kapak tutulumu başta olmak üzere kardiyak tutulumu olan hastalarda KTS’nin daha sık olduğunu bulduk. Özellikle kardiyak tutulumu olan MPS hastalarında KTS taramasının yapılması gerektiğini öneriyoruz.

Kaynakça

  • Patel P, Antoniou G, Clark D, Ketteridge D, Williams N. Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis. J Child Neurol. 2020;35(6):410-417. doi:10.1177/0883073820904481
  • van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis. 2011;34(3):657-669. doi:10.1007/s10545-011-9304-x
  • Parini R, Deodato F. Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations. Int J Mol Sci. 2020;21(8):2975. Published 2020 Apr 23. doi:10.3390/ijms21082975
  • Michaud M, Belmatoug N, Catros F, et al. Mucopolysaccharidoses: quand y penser ? [Mucopolysaccharidosis: A review]. Rev Med Interne. 2020;41(3):180-188. doi: 10.1016/j.revmed.2019.11.010
  • Nørmark MB, Kjaer N, Lund AM. Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS. JIMD Rep. 2017; 36:29-33. doi:10.1007/8904_2016_32
  • Jadhav TM, Kornberg AJ, Peters H, et al. Carpal tunnel syndrome in pediatric mucopolysaccharidoses. Journal of the International Child Neurology Association. 2015; 1:1. https://doi.org/10.17724/jicna.2015.101.
  • Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124(6):e1228-e1239. doi:10.1542/peds.2008-0999
  • Viskochil D, Muenzer J, Guffon N, et al. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017;59(12):1269-1275. doi:10.1111/dmcn.13545
  • Martín-Juste P, Parada-Avendaño I, Gómez-Palacio VE, Gil-Albarova J. Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report. Childs Nerv Syst. 2022;38(8):1651-1653. doi:10.1007/s00381-022-05492-w
  • Yuen A, Dowling G, Johnstone B, Kornberg A, Coombs C. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol. 2007 Mar;22(3):260-3. doi: 10.1177/0883073807300528. PMID: 17621494
  • White K, Kim T, Neufeld JA. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):57-62. doi: 10.3233/PRM-2010-0103. PMID: 21791830.
  • Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8
  • Ryan CS, Conlee EM, Sharma R, Sorenson EJ, Boon AJ, Laughlin RS. Nerve conduction normal values for electrodiagnosis in pediatric patients. Muscle Nerve. 2019 Aug;60(2):155-160. doi: 10.1002/mus.26499. Epub 2019 May 11. PMID: 31032944
  • Boffi L, Russo P, Limongelli G. Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. Ital J Pediatr. 2018;44(Suppl 2):122. Published 2018 Nov 16. doi:10.1186/s13052-018-0560-3.
  • Fesslová V, Corti P, Sersale G, et al. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young. 2009;19(2):170-178. doi:10.1017/S1047951109003576
  • Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke I, Jüngst BK. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur J Pediatr. 1995;154(2):98-101. doi:10.1007/BF01991908
  • Braunlin E, Orchard PJ, Whitley CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol. 2014;23(3):145-151. doi:10.1016/j.carpath.2014.01.001
  • Ayuna A, Stepien KM, Hendriksz CJ, Balerdi M, Garg A, Woolfson P. Cardiac rhythm abnormalities- An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses. Mol Genet Metab. 2020;130(2):133-139. doi:10.1016/j.ymgme.2020.03.005
  • Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr. 1998;157(7):534-538. doi:10.1007/s004310050872
  • Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010;33(4):421-427. doi:10.1007/s10545-010-9113-7
  • Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidoses. Cardiology. 2002;98(1-2):18-20. doi:10.1159/000064674
  • Papakonstantinou E, Karakiulakis G. The 'sweet' and 'bitter' involvement of glycosaminoglycans in lung diseases: pharmacotherapeutic relevance. Br J Pharmacol. 2009;157(7):1111-1127. doi:10.1111/j.1476-5381.2009.00279.x
  • Gewitz MH, Baltimore RS, Tani LY, et al. Revision of the Jones Criteria for the diagnosis of acute rheumatic fever in the era of Doppler echocardiography: a scientific statement from the American Heart Association [published correction appears in Circulation. 2020 Jul 28;142(4):e65. doi: 10.1161/CIR.0000000000000889]. Circulation. 2015;131(20):1806-1818. doi:10.1161/CIR.0000000000000205
  • Nappi F, Spadaccio C, Moon MR. A management framework for left sided endocarditis: a narrative review. Ann Transl Med. 2020 Dec;8(23):1627. doi: 10.21037/atm-20-4439. PMID: 33437826; PMCID: PMC7791223
  • Shmueli H, Thomas F, Flint N, Setia G, Janjic A, Siegel RJ. Right-Sided Infective Endocarditis 2020: Challenges and Updates in Diagnosis and Treatment. J Am Heart Assoc. 2020;9(15):e017293. doi:10.1161/JAHA.120.017293
  • Sherwood DJ, Adams MC, Mazzella AJ, Abid A, Prasada S, Muenzer J, Johnson SM, Yeung M. Mucopolysaccharidosis Type I Diagnosed by Aortic and Mitral Valve Replacement. JACC Case Rep. 2021 Dec 15;3(18):1891-1894. doi: 10.1016/j.jaccas.2021.10.013. PMID: 34984346; PMCID: PMC8693276
  • Wipperman J, Goerl K. Carpal Tunnel Syndrome: Diagnosis and Management. Am Fam Physician. 2016;94(12):993-999.
  • Padua L, Cuccagna C, Giovannini S, et al. Carpal tunnel syndrome: updated evidence and new questions. Lancet Neurol. 2023;22(3):255-267. doi:10.1016/S1474-4422(22)00432-X
  • Koç Yekedüz M, Köse E, İnci A, et al. Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?. Pediatr Neurol. 2024; 155:171-176. doi:10.1016/j.pediatrneurol.2024.03.032
  • Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis. Dev Med Child Neurol. 2016;58(11):1172-1179. doi:10.1111/dmcn.13127
Toplam 30 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri (Diğer)
Bölüm Original Article
Yazarlar

Banu Kadıoğlu Yılmaz 0000-0002-5521-7659

Melih Timuçin Doğan 0000-0003-3565-8606

Onur Bulut 0000-0001-7869-9235

Ahmet Sert 0000-0002-1607-7569

Hüseyin Yılmaz 0000-0002-9971-9669

Erken Görünüm Tarihi 29 Ekim 2024
Yayımlanma Tarihi 31 Ekim 2024
Gönderilme Tarihi 21 Temmuz 2024
Kabul Tarihi 25 Eylül 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 34 Sayı: 5

Kaynak Göster

Vancouver Kadıoğlu Yılmaz B, Doğan MT, Bulut O, Sert A, Yılmaz H. The Relationship Between Carpal Tunnel Syndrome and Cardiac Involvement in Patients with Mucopolysaccharidosis. Genel Tıp Derg. 2024;34(5):733-9.