Mitral Valve Neurofibrom In A Patient With Neurofibromatosis Type 1

Mitral Valve Neurofibrom In A Patient With Neurofibromatosis Type 1; A Rare Condition
Nadir Bir Durum: Nörofibromatozis Tip 1 Li Bir Olguda Mitral Kapakta Nörofibrom
Ali Rıza Akyüz1, Levent Korkmaz1, Turhan Turan1, Burak Akşan2
1 Trabzon Ahi Evren Göğüs Kalp ve Damar Cerrahisi Eğitim ve Araştırma Hastanesi, Kardiyoloji
Kliniği, Trabzon, Türkiye
2 Akçaabat Haçkalı Baba Devlet Hastanesi, Dermatoloji Kliniği, Trabzon, Türkiye
Keywords: Neurofibroma, mitral valve, echocardiography.
Anahtar Kelimeler: Nörofibrom, mitral kapak, ekokardiyografi.
Geliş Tarihi: 24.03.2016 - Kabul Tarihi: 12.04.2016
Uzm. Dr. Ali Rıza Akyüz
Trabzon Ahi Evren Göğüs Kalp ve Damar Cerrahisi
Eğitim ve Araştırma Hastanesi, Kardiyoloji Kliniği,
Trabzon, Türkiye
E-mail: dralirizaakyuz@gmail.com
A 53 year old female patient with NF-1 was evaluated because of shortness of breath. Physical
examination revealed numerous café-au-lait macules (Fig. 1 Panel A), cutaneous neurofibromas over
her whole body (Figure 1 Panel B) and axillary freckles (Fig. 1 Panel C). During cardiac examination,
3/6 systolic murmur was detected on mitral focus. Echocardiography revealed moderate mitral
regurgitation. In order to detailed examination, Transesophageal echocardiography was performed. It
showed moderate mitral regurgitation(Fig. 2) and 6x8 mm anterior mitral valve nodule (Fig. 1 Panel
D). Taken into account of patients’ cutaneous neurofibromas, we assumed that nodule on mitral valve
might be a neurofibrom. Further examination with CT or MRI was suggested but patient refused.
Figure 1
Numerous café-au-lait macules (Panel A arrow), cutaneous neurofibromas (Panel B) and axillary
freckles (Panel C), Transesophageal echocardiography demonstrates anterior mitral neurofibrom
(Panel D arrow)
Figure 2
Transesophageal echocardiography demonstrates mitral regurgitation