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NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU

Year 2015, Volume: 5 Issue: 2, 84 - 89, 01.06.2015

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. Kardiyovas- küler sistem nadiren etkilenir. NF 1’deki kardiak tutulumun başlıca klinik özellikleri; kon- jenital kalp defektleri, kardiyomiyopati, renal arter stenozu ve hipertansiyondur. Mitral kapak prolapsusu (MVP) genellikle Marfan sendromu, Ehler-Danlos sendromu ve muko- polisakkaridozis gibi hastalıklarda görülür. NF1 ile MVP birlikteliği ise oldukça nadirdir. Üfürüm duyulması nedeniyle kliniğimize gönderilen hastanın fizik muayenesinde cildin- de yaygın cafe-au-lait lekeleri, skolyozu, apekste midsistolik klik ile birlikte 2/6 geç sisto- lik 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.

Anahtar kelimeler: Nörofibromatozis Tip 1, Mitral kapak proplapsusu, Mitral yetmezlik

ABSTRACT

Neurofibromatosis (NF) Type 1 is a multisystem disorder, affecting primarily the skin, nervous and musculoskeletal systems. It is characterized by cutaneous findings, such as café-au-lait spots and freckling, by skeletal dysplasias, and by the benign or malignant nervous system tumors. Cardiovasculer system is rarely involved. Congenital heart defects, cardiomyopathy, renal artery stenosis, hypertension are main clinical features of cardiovascular involvement in NF1. Mitral valve prolapse (MVP) is usually seen in Marfan syndrome, Ehlers-Danlos syndrome and mucopolysaccharidosis. NF 1 overlap with MVP is very rare. The patient was referred our clinic because of heart murmur. And she had café-au-lait spots on her skin, scoliosis, mid-to-late systolic click at the apex, late systolic
2/6 murmur and mild mental retardation on her physical examination. Echocardiogram revealed that mitral valve prolapse and mitral valve insufficieny. We aimed to present this case because of cardiovasculer diseases overlap with NF is a rare condition..

Key words: Mitral valve insufficieny, Mitral valve prolapse, Neurofibromatosis Type 1

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(2):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 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: 2, 84 - 89, 01.06.2015

Abstract

Neurofibromatosis (NF) Type 1 is a multisystem disorder, affecting primarily the skin, nervous and musculoskeletal systems. It is characterized by cutaneous findings, such as café-au-lait spots and freckling, by skeletal dysplasias, and by the benign or malignant nervous system tumors. Cardiovasculer system is rarely involved. Congenital heart defects, cardiomyopathy, renal artery stenosis, hypertension are main clinical features of cardiovascular involvement in NF1. Mitral valve prolapse (MVP) is usually seen in Marfan syndrome, Ehlers-Danlos syndrome and mucopolysaccharidosis. NF 1 overlap with MVP is very rare. The patient was referred our clinic because of heart murmur. And she had café-au-lait spots on her skin, scoliosis, mid-to-late systolic click at the apex, late systolic 2/6 murmur and mild mental retardation on her physical examination. Echocardiogram revealed that mitral valve prolapse and mitral valve insufficieny. We aimed to present this case because of cardiovasculer diseases overlap with NF is a rare condition

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(2):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 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

Zehra Karataş This is me

Sevil Bilir Göksügür This is me

Mervan Bektaş This is me

Sıddıka Halıcıoğlu This is me

Emine Demirbaş Çakır This is me

Nadir Göksügür This is me

Publication Date June 1, 2015
Published in Issue Year 2015 Volume: 5 Issue: 2

Cite

APA Karataş, Z., Göksügür, S. B., Bektaş, M., Halıcıoğlu, S., et al. (2015). NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU. Bozok Tıp Dergisi, 5(2), 84-89.
AMA Karataş Z, Göksügür SB, Bektaş M, Halıcıoğlu S, Çakır ED, Göksügür N. NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU. Bozok Tıp Dergisi. June 2015;5(2):84-89.
Chicago Karataş, Zehra, Sevil Bilir Göksügür, Mervan Bektaş, Sıddıka Halıcıoğlu, Emine Demirbaş Çakır, and Nadir Göksügür. “NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU”. Bozok Tıp Dergisi 5, no. 2 (June 2015): 84-89.
EndNote Karataş Z, Göksügür SB, Bektaş M, Halıcıoğlu S, Çakır ED, Göksügür N (June 1, 2015) NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU. Bozok Tıp Dergisi 5 2 84–89.
IEEE Z. Karataş, S. B. Göksügür, M. Bektaş, S. Halıcıoğlu, E. D. Çakır, and N. Göksügür, “NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU”, Bozok Tıp Dergisi, vol. 5, no. 2, pp. 84–89, 2015.
ISNAD Karataş, Zehra et al. “NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU”. Bozok Tıp Dergisi 5/2 (June 2015), 84-89.
JAMA Karataş Z, Göksügür SB, Bektaş M, Halıcıoğlu S, Çakır ED, Göksügür N. NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU. Bozok Tıp Dergisi. 2015;5:84–89.
MLA Karataş, Zehra et al. “NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU”. Bozok Tıp Dergisi, vol. 5, no. 2, 2015, pp. 84-89.
Vancouver Karataş Z, Göksügür SB, Bektaş M, Halıcıoğlu S, Çakır ED, Göksügür N. NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU. Bozok Tıp Dergisi. 2015;5(2):84-9.
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