Poland Syndrome and Association with Atrial Septal Defect and Pulmonary Stenosis; A two Case Report

Congenital unilateral absence of pectoralis muscles in combination with ipsilateral brachysyndactyly is the most acceptable definition of Poland syndrome. This very rare syndrome has been reported in association with various malignancies and deformities including cardiovascular anomalies. To our knowledge, pulmonary stenosis associated with Poland's syndrome has not been described previously in literature, and there are a few articles about atrial septal defect (ASD) in combination with this syndrome either. We present the first report of Poland syndrome associated with pulmonary valve stenosis and another case of Poland syndrome with ASD. We discuss common etiologic factors of this rare syndrome. Case history: Case one: The first patient is a 23 month old boy with Poland syndrome presentation such as absence of pectoralis major of right hemi-thorax, nipple and subcutaneous hypoplasia and ipsilateral brachysyndactyly. On physical examination, we found a systolic ejection sound in auscultation so that a complete cardiac evaluation was performed. Pulmonary stenosis with 7mm diameter was detected by Color-Doppler echocardiography. Case two: The second patient is a 5 year old girl presenting typical Poland syndrome clinical manifestation. She has congenital right pectoralis major agenesis, Right upper position of nipple and areola was compared to left hemi-thorax, and an ipsilateral hypoplastic hand with syndactyly and short fingers. The 2-dimentional echocardiogram revealed that she is suffering from an Ostium Secundum ASD. Although Poland syndrome is a rare congenital one, it is associated with numerous anomalies and malignancies in the reported articles. The two mentioned cases are the samples of cardiac anomalies associated with this very unique syndrome. According to critical situation of cardiovascular problems, performing a complete cardiovascular evaluation in addition to common medical-surgical treatments seems to be essential for patients with Poland syndrome.