Journal of Rare Cardiovascular Diseases

Background: Dextrocardia, a rare condition occurring in about 1 in 12,000 births, involves the abnormal positioning of the heart. While the exact cause remains unclear, it is believed to result from disruptions during early cardiac development. This case highlights the uncommon association between dextrocardia and a posterior fossa arachnoid cyst, a combination not frequently reported in the literature. Case summary: A 25-year-old female presented with symptoms of exertional dyspnea, orthopnea, paroxysmal nocturnal dyspnea, and fatigue, alongside bilateral peripheral edema. Her physical examination revealed elevated jugular venous pressure, tachycardia, and a systolic murmur, with ascites and lower extremity edema. Chest X-ray showed dextrocardia and cardiomegaly, and a CT scan of the brain identified an arachnoid cyst. Laboratory tests confirmed mild anemia, with normal renal function and serum protein levels. The patient was diagnosed with congestive heart failure and started on appropriate pharmacologic therapy, but she chose not to pursue further treatment for the arachnoid cyst, opting for outpatient follow-up instead. Discussion: The potential genetic association between dextrocardia and arachnoid cysts underscores the importance of comprehensive genetic evaluation in patients with congenital anomalies. While both conditions may be asymptomatic, their co-occurrence may be part of a broader developmental syndrome that warrants further exploration. Understanding the genetic basis of these conditions could provide valuable insights into their pathophysiology, aid in diagnosis, and guide management strategies in affected individuals.