NÖROFİBROMATOZİS TİP 1’DE KALP TUTULUMU

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

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

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

Keywords

Nörofibromatozis Tip 1, Mitral kapak proplapsusu, Mitral yetmezlik

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