Klippel Feil syndrome with Endocardial Cushion Defect-A rare case report

Klippel Feil syndrome KFS is a rare anomaly defined as fusion of two or more cervical vertebrae. It is been associated with multiple system anomalies, of which cardiovascular system being less commonly involved or reported. Here we present a case of KFL with a new anomaly of heart, not reported so far. An 18 yr old female was referred with history of NYHA class II dyspnea and restricted neck movements. On Clinical examination she was found to have wide fixed second heart sound, mitral regurgitation with significant restriction of neck movement in lateral flexion and extension. CT scan revealed a block vertebra and a omovertebra. 3D echo showed partial Endocardial Cushion Defect with ostium primum ASD with cleft AML, Grade-II MR, 3mm peri membranous VSD with left to right shunt. Aortogram revealed aortic arch anomaly. A final diagnosis of KFS type 2 with sprengel shoulder with partial ECD with aortic arch anomaly was made in our workup. An early diagnosis, search for anomaly and prompt management could improve the quality of life of the patient. A vigilant search for cardiovascular system anomalies should be mandatory in KFS which could yield less morbidity and mortality in KFS patients.