LEOPARD syndrome

Erdenen F., Guerel M. S., Canoez M. j. B., Guenel S., Canoez B., Uludag A.

NOBEL MEDICUS, cilt.3, sa.3, ss.35-38, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 3 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1093/eurheartj/ehm282
  • Dergi Adı: NOBEL MEDICUS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.35-38
  • İstanbul Üniversitesi Adresli: Evet

Özet

The LEOPARD syndrome is a dysmorphogenetic and multisystem cardio-cutaneous syndrome. A 32-year-old female is presented with multiple lentigines, hypertrophic obstructive cardiomyopathia (HOCM), tight bundle branch block, mitral valve stenosis and insufficiency, scoliosis, ocular hypertelorism, gynocologic pathologies and iron deficiency anemia. Hyperthrophic cardiomyopathy was treated by septal ablation two years ago. Hyperthrophic cardiomyopathy was also diagnosed in her sister without lentigines and there was no family history of LEOPARD syndrome in the family. Patients with lentiginous lesions must be considered for systemic disease and should be investigated for cardiac disorders.