Aynı Olguda İki Nadir Hastalık: Jarcho-Levin Sendromu ve Kompleks Kardiyak Patoloji

Öz

Jarcho-Levin sendromu, ilk kez 1938 yılında solunum yetmezliğine neden olan yengeç şeklinde göğüs kafesi deformitesi ve çeşitli vertebral anomaliler olarak tariflendi. Daha sonraları hastalığın diğer organ sistemlerini de etkilediği görüldü. Sendromun spondilotorasik displazi (STD) ve spondilokostal dizostozis (SCD) olmak üzere 2 farklı fenotipi vardır. Sendromun spondilotorasik displazi fenotipi daha mortal seyreder. Toraks deformitelerinin hafif olduğu SCD tipinde ise eşlik eden kompleks kalp anomalileri prognozu bozar. Bu yazıda, Fallot tipinde çift çıkışlı sağ ventrikül defekti ve SCD fenotipinde bir Jarcho-Levin sendromu olgusu sunulmuştur. Literatürde daha önce benzer özellikte olgu bildirilmemiştir.

Anahtar Kelimeler

• Jarcho-Levin sendromu, spondilokostal displazi, kompleks kardiyak patoloji

TWO RARE DISEASES IN THE SAME PATIENT: JARCHO-LEVIN SYNDROME AND COMPLEX CARDIAC PATHOLOGY

Öz

Jarcho-Levin Syndrome is first described in 1938 as crab-shaped thorax deformity and several vertebral anomalies causing respiratory distress. Later on, it is disclosed that other systems are also involved in the syndrome. There are two fenotypes of the disorder namely spondylothoracic dysplasia (STD) and spondylocostal dysostosis (SCD). The prognosis of STD is more fatal. In SCD type, which thorax deformities are milder, accompanying complex cardiac deformities make the prognosis worse. Here we report a rare case of SCD type Jarcho-Levin syndrome associated with Fallot type double outlet right ventricule defect. This is the first such case in the literature

Anahtar Kelimeler

• Jarcho-Levin syndrome, spondylocostal dysplasia, complex cardiac pathology

Kaynakça

1. Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, council on car- diovascular disease in the young: endorsed by the American Academy of Pediatrics. Circulation 2007;115:3015-3038.
2. Vázquez-López ME, López-Conde MI, Somoza-Rubio C, Pérez-Pacín R, Morales-Redondo R, González-Gay MA. Anomalies of vertebra and ribs: Jarcho Levin syndrome. Description of a case and literature review. Joint Bone Spine. 2005;72: 275-277.
3. Angelini P. Embryology and Congenital Heart Diseae. Texas Herat Instute Journal 1995:22;1-12
4. Seo JW, Chi JG, Park IA, Lee SK, Yoon YS, Yang SW. Double outlet right Ventricle, Taussig-Bing Type, an autopsy case. K J Path 1983;17:165- 170.