A CASE OF POLAND SYNDROME WITH MITRAL VALVE PROLAPSE, MITRAL AND TRICUSPID VALVE INSUFFICIENCY: A CASE REPORT

Year 2012, Volume: 6 Issue: 2, 54 - 56, 21.08.2012

Tülay Tos

Abstract

Poland syndrome is characterised by unilateral absence or hypoplasia of the pectoralis muscle, and ipsilateral hand and digit anomalies. Other associated anomalies are ipsilateral rib anomalies, and hypoplasia or aplasia of mammary tissue. This syndrome occurs in approximately 1/30.000 live births. Here we describe an 8 years 5 months old girl patient with Poland syndrome and multiple cardiac defects. She was referred to the department of medical genetics because of congenital cardiac malformations and chest deformity on the left. She has also scoliosis and simian variant on her left hand. X-ray imaging demonstrated absence of 4th-6th ribs on the left. Echocardiographic examination revealed mitral valve prolapse, mitral valve insufficiency, and tricuspid valve insufficiency. Congenital cardiac defects are not common features of Poland syndrome. To the best of our knowledge; this is the first case report of Poland syndrome associated with cardiac valve defects.

Keywords

Poland syndrome, mitral valve prolapse, mitral valve insufficiency, tricuspid valve insufficiency

POLAND SENDROMU İLE BİRLİKTE MİTRAL KAPAK PROLAPSUSU, MİTRAL VE TRİKÜSPİT KAPAK YETMEZLİĞİ: BİR OLGU SUNUMU

Abstract

Poland sendromu pektoralis major ve minör kaslarının yokluğu ve beraberinde aynı tarafta el ve parmak anomalileri ile karakterize bir sendromdur. Eşlik eden diğer bulgular ipsilateral olarak kostaların hipoplazisi veya tam yokluğu ve meme dokusunun hipoplazisi veya tam yokluğu olabilir. Canlı doğumlarda görülme sıklığı 1/30.000’dir. Bu olguda 8 yaş 5 aylık bir kız çocuğu sunulmaktadır. Konjenital kalp hastalığı ve göğüs deformitesi nedeniyle polikliniğimize refere edilen hastanın göğüs kafesinin sol tarafında deformite vardı. Fizik muayenesinde sol kotlarında eksiklik görüldü. Hastamızda ek olarak skolyoz ve sol elinde simian varyantı saptandı. Göğüs grafisinde 4.-6. kostaların bulunmadığı tespit edildi. Ekokardiyografik incelemede ise mitral valv prolapsusu, mitral kapak ve triküspit kapak yetmezliği saptandı. Poland sendromunda konjenital kalp hastalığı sık görülen bir durum değildir. Literatürde bugüne kadar Poland sendromu ile kalp kapak anomalileri arasında bir ilişki gösterilmemiştir.

Dr. Tülay TOS
Dr. Muhammed Yunus ALP
Dr. Reşat DOĞUSAN

Keywords

Poland sendromu, mitral kapak prolapsusu, mitral yetmezlik, triküspit yetmezlik

References

• 1. Poland A. Deficiency of the pectoral muscle. Guys Hosp Rep 1841; 6:191.
• 2. Fokin AA, Robicsek F. Poland’s syndrome revisited. Ann Thorac Surg 2002; 74:2218-25.
• 3. Moir CR, Johnson CH. Poland’s syndrome. Sem in Ped Surg 2008; 17:161166.
• 4. Darian VB, Argenta LC, Pasyk KA. Familial Poland’s syndrome. Ann Plast Surg 1989; 23:531-7.
• 5. Stevens DB, Fink BA, Prevel C. Poland’s syndrome in one identical twin. J Pediatr Orthop 2000; 20:392-5.
• 6. Bavinck JN, Weaver DD. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. Am J Med Genet 1986; 23:903-18.
• 7. Ravitch MM. Poland’s syndrome. In: Ravitch MM, ed. Congenital deformities of the chest wall and their opera- tive correction. Philadelphia, London, Toronto: WB Saunders; 1977: 233–71.
• 8. Samant AR, Sridhar S, Desser KB, Benchimol A. Association of atrial septal defect with Poland’s syndrome. Am Heart J 1983; 106:159-61.
• 9. Assadi FK, Salem M. Poland syndrome associated with renal agenesis. Pediatr Nephrol 2002; 17:269-71.