A common pediatric presentation of an unusual disease: non-compaction cardiomyopathy

Abstract

Background: Shortness of breath is a very common presentation at the pediatric emergency department, but making a diagnosis based on it is very challenging for physicians because of the numerous differential diagnoses, including respiratory and cardiac causes. Case Presentation: Herein, we describe the case of a 2-month-old patient who presented to our emergency department in October 2017 with shortness of breath for 3 weeks duration. She was diagnosed as having lower respiratory tract infection; a cardiac murmur was incidentally found, which turned out to be a very rare congenital cardiac disease: left ventricular non-compaction cardiomyopathy (LVNC). She was treated with anti-failure medications but unfortunately died before cardiac transplant. Conclusion: As demonstrated by this case, non-compaction cardiomyopathy can be easily missed and misdiagnosed because of its rarity and diverse symptoms on presentation. Since corresponding treatment modalities are lacking, the prevention of associated complications is the primary goal of LVNC management.