Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association

Context: Dysplastic pulmonary valve stenosis is a less common variety of valvular pulmonary stenosis. It is known to be part of Noonan syndrome. Bony hand anomalies in patients of pulmonary stenosis are very rare. Case report: A 50-year-old lady, with no significant past history, presented with slowly progressive breathlessness and fatigue, and had progressed from NYHA class 1 to 2 over 2 years. She had unilateral absent first metacarpal and diagnosed on workup to have dysplastic pulmonary valve stenosis and was treated with balloon valvuloplasty. Conclusion: Dysplastic pulmonary valve stenosis can rarely be associated with bony hand anomalies like absent first metacarpal.