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Nörofibromatozis Tip 1’de Kalp Tutulumu

Year 2015, Volume: 5 Issue: 1, 0 - 0, 27.02.2015

Sevil Bilir Goksugur Zehra Karataş Mervan Bektaş Sıddıka Halıcıoğlu Emine Demirbaş Çakır Nadir Goksugur Sevil Bilir Goksugur

Abstract

Nörofibromatozis Tip 1 (NF 1) öncelikle deri, sinir sistemi ve kas iskelet sistemini tutan multisistemik bir hastalıktır. Cafe-au-lait lekeleri ve çillenme gibi deri bulguları, iskelet displazileri ve iyi veya kötü huylu sinir sistemi tümörleri ile karakterizedir. Kardiyovasküler sistem nadiren etkilenir. NF 1’deki kardiak tutulumun başlıca klinik özellikleri; konjenital kalp defektleri, kardiyomiyopati, renal arter stenozu ve hipertansiyondur. Mitral kapak prolapsusu (MVP) genellikle Marfan sendromu, Ehler-Danlos sendromu ve mukopolisakkaridozis gibi hastalıklarda görülür. NF1 ile MVP birlikteliği ise oldukça nadirdir. Üfürüm duyulması nedeniyle kliniğimize gönderilen hastanın fizik muayenesinde cildinde yaygın cafe-au-lait lekeleri, skolyozu, apekste midsistolik klik ile birlikte 2/6 geç sistolik üfürümü ve hafif düzeyde zeka geriliği mevcuttu. Ekokardiyografik incelemede mitral kapak prolapsusu ve mitral yetmezlik tespit edildi. NF1 ile kardiyovasküler hastalıkların birlikteliği nadir görüldüğü için bu vakayı sunmak istedik.

References

  • Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Towers Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.
  • Utine GE. RASopathies: Neuro-Cardio-Facio-Cutaneous Syndromes. Türkiye Klinikleri J Pediatr Sci 2011;7(2):92-8.
  • Hamilton SJ, Allard MF, Friedman JM. Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet 2001;100(2):95-9.
  • Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, et al. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis 2011;6:18.
  • Tang SC, Lee MJ, Jeng JS, Yip PK. Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke. J Neurol Sci 2006;243(1-2):53-5.
  • Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet. 2000;95(2):108-17.
  • Tedesco MA, Di Salvo G, Natale F, Pergola V, Calabrese E, Grassia C, et al. The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J 2002;143(5):883-8.
  • Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, Macedo TA, Stanson A. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007;46(3):475-84.
  • Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G, et al. Cardiac characterization of 16 patients with large NF1 gene deletions. Clin Genet. 2013;84(4):344-9.
  • Smith A, Araoz PA, Kirsch J. Coronary arterial aneurysms in neurofibromatosis 1: case report and review of the literature. J Thorac Imaging 2009;24(2):129-31.
  • Xu J, Ismat FA, Wang T, Lu MM, Antonucci N, Epstein JA. Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. Circ Res 2009;105(3):304-11.
  • Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H. The genetics of mitral valve prolapse. Clin Genet 2007;72(4):288-95.
  • Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, Aydogan U, Omeroglu RE, Dindar A. Cardiovascular abnormalities in Williams syndrome: 20 years experience in Istanbul. Acta Cardiol 2012;67(6):649-55.
  • Chaudhry SP, Frishman WH. Myotonic dystrophies and the heart. Cardiol Rev 2012;20(1):1-3.
  • Leal GN, de Paula AC, Leone C, Kim CA. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 2010;20(3):254-61.
  • Bensaid J, Gueret P, Virot P, Vergnoux H, Lacroix P, Thiry M. Recklinghausen's disease and mitral valve prolapse. Presse Med 1986;15(30):1424.
  • Saltık S, Başgül ŞS. Nörofibromatozis Tip 1 Tanılı Çocuklarda Annelerin Değerlendirmesine Göre Yaşam Kalitesi. Türk Psikiyatri Dergisi 2013;24(1):25-34.
  • Coulston J, Thekkudan J, Ibrahim MF. A quadricuspid aortic valve in a patient with neurofibromatosis type 1. J Heart Valve Dis 2005;14(5):703-4.
  • Kanter RJ, Graham M, Fairbrother D, Smith SV. Sudden cardiac death in young children with neurofibromatosis type 1. J Pediatr 2006;149(5):718-20.
  • Fedakar R, Akan O, Eren B, Türkmen N, Erol O. NF1 olgusunda ilginç kardiak ve pulmoner patoloji. Adli Tıp Dergisi 2005;19(1):14-7.
  • Payne JM, Pickering T, Porter M, Oates EC, Walia N, Prelog K, North KN. Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study. Am J Med Genet A 2014;164(3):661-5.
  • Cairns AG, North KN. Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 2008;79:1165-70.
  • Goksugur N, Gurel S. Neurofibromatosis of nipple-areola complex. Breast J. 2011;17(4):424.

Year 2015, Volume: 5 Issue: 1, 0 - 0, 27.02.2015

Sevil Bilir Goksugur Zehra Karataş Mervan Bektaş Sıddıka Halıcıoğlu Emine Demirbaş Çakır Nadir Goksugur Sevil Bilir Goksugur

Abstract

References

  • Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Towers Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.
  • Utine GE. RASopathies: Neuro-Cardio-Facio-Cutaneous Syndromes. Türkiye Klinikleri J Pediatr Sci 2011;7(2):92-8.
  • Hamilton SJ, Allard MF, Friedman JM. Cardiac findings in an individual with neurofibromatosis 1 and sudden death. Am J Med Genet 2001;100(2):95-9.
  • Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, et al. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis 2011;6:18.
  • Tang SC, Lee MJ, Jeng JS, Yip PK. Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke. J Neurol Sci 2006;243(1-2):53-5.
  • Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M, et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet. 2000;95(2):108-17.
  • Tedesco MA, Di Salvo G, Natale F, Pergola V, Calabrese E, Grassia C, et al. The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J 2002;143(5):883-8.
  • Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, Macedo TA, Stanson A. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007;46(3):475-84.
  • Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G, et al. Cardiac characterization of 16 patients with large NF1 gene deletions. Clin Genet. 2013;84(4):344-9.
  • Smith A, Araoz PA, Kirsch J. Coronary arterial aneurysms in neurofibromatosis 1: case report and review of the literature. J Thorac Imaging 2009;24(2):129-31.
  • Xu J, Ismat FA, Wang T, Lu MM, Antonucci N, Epstein JA. Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction. Circ Res 2009;105(3):304-11.
  • Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H. The genetics of mitral valve prolapse. Clin Genet 2007;72(4):288-95.
  • Ergul Y, Nisli K, Kayserili H, Karaman B, Basaran S, Koca B, Aydogan U, Omeroglu RE, Dindar A. Cardiovascular abnormalities in Williams syndrome: 20 years experience in Istanbul. Acta Cardiol 2012;67(6):649-55.
  • Chaudhry SP, Frishman WH. Myotonic dystrophies and the heart. Cardiol Rev 2012;20(1):1-3.
  • Leal GN, de Paula AC, Leone C, Kim CA. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 2010;20(3):254-61.
  • Bensaid J, Gueret P, Virot P, Vergnoux H, Lacroix P, Thiry M. Recklinghausen's disease and mitral valve prolapse. Presse Med 1986;15(30):1424.
  • Saltık S, Başgül ŞS. Nörofibromatozis Tip 1 Tanılı Çocuklarda Annelerin Değerlendirmesine Göre Yaşam Kalitesi. Türk Psikiyatri Dergisi 2013;24(1):25-34.
  • Coulston J, Thekkudan J, Ibrahim MF. A quadricuspid aortic valve in a patient with neurofibromatosis type 1. J Heart Valve Dis 2005;14(5):703-4.
  • Kanter RJ, Graham M, Fairbrother D, Smith SV. Sudden cardiac death in young children with neurofibromatosis type 1. J Pediatr 2006;149(5):718-20.
  • Fedakar R, Akan O, Eren B, Türkmen N, Erol O. NF1 olgusunda ilginç kardiak ve pulmoner patoloji. Adli Tıp Dergisi 2005;19(1):14-7.
  • Payne JM, Pickering T, Porter M, Oates EC, Walia N, Prelog K, North KN. Longitudinal assessment of cognition and T2-hyperintensities in NF1: an 18-year study. Am J Med Genet A 2014;164(3):661-5.
  • Cairns AG, North KN. Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 2008;79:1165-70.
  • Goksugur N, Gurel S. Neurofibromatosis of nipple-areola complex. Breast J. 2011;17(4):424.
There are 23 citations in total.

Details

Journal Section Case Report
Authors

Sevil Bilir Goksugur

Zehra Karataş This is me

Mervan Bektaş This is me

Sıddıka Halıcıoğlu This is me

Emine Demirbaş Çakır This is me

Nadir Goksugur

Sevil Bilir Goksugur

Publication Date February 27, 2015
Published in Issue Year 2015 Volume: 5 Issue: 1

Cite

APA Goksugur, S. B., Karataş, Z., Bektaş, M., Halıcıoğlu, S., et al. (2015). Nörofibromatozis Tip 1’de Kalp Tutulumu. Bozok Tıp Dergisi, 5(1).
AMA Goksugur SB, Karataş Z, Bektaş M, Halıcıoğlu S, Demirbaş Çakır E, Goksugur N, Goksugur SB. Nörofibromatozis Tip 1’de Kalp Tutulumu. Bozok Tıp Dergisi. February 2015;5(1).
Chicago Goksugur, Sevil Bilir, Zehra Karataş, Mervan Bektaş, Sıddıka Halıcıoğlu, Emine Demirbaş Çakır, Nadir Goksugur, and Sevil Bilir Goksugur. “Nörofibromatozis Tip 1’de Kalp Tutulumu”. Bozok Tıp Dergisi 5, no. 1 (February 2015).
EndNote Goksugur SB, Karataş Z, Bektaş M, Halıcıoğlu S, Demirbaş Çakır E, Goksugur N, Goksugur SB (February 1, 2015) Nörofibromatozis Tip 1’de Kalp Tutulumu. Bozok Tıp Dergisi 5 1
IEEE S. B. Goksugur, “Nörofibromatozis Tip 1’de Kalp Tutulumu”, Bozok Tıp Dergisi, vol. 5, no. 1, 2015.
ISNAD Goksugur, Sevil Bilir et al. “Nörofibromatozis Tip 1’de Kalp Tutulumu”. Bozok Tıp Dergisi 5/1 (February 2015).
JAMA Goksugur SB, Karataş Z, Bektaş M, Halıcıoğlu S, Demirbaş Çakır E, Goksugur N, Goksugur SB. Nörofibromatozis Tip 1’de Kalp Tutulumu. Bozok Tıp Dergisi. 2015;5.
MLA Goksugur, Sevil Bilir et al. “Nörofibromatozis Tip 1’de Kalp Tutulumu”. Bozok Tıp Dergisi, vol. 5, no. 1, 2015.
Vancouver Goksugur SB, Karataş Z, Bektaş M, Halıcıoğlu S, Demirbaş Çakır E, Goksugur N, Goksugur SB. Nörofibromatozis Tip 1’de Kalp Tutulumu. Bozok Tıp Dergisi. 2015;5(1).
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