A novel PRKAR1A gene mutation in a young patient with cardiac myxoma

Abstract

Myxomas are the most common clinically detected primary cardiac tumours, located predominantly in the left atrium. They occur sporadically in 90% of cases, especially women with mean age of 50 years. About 7% of cardiac myxomas occur in a setting wherein these tumors occur at atypical or multiple sites in young patients with extra-cardiac manifestations as well. This is designated as Carney’s complex, which may be familial or sporadic. Genetic studies have confirmed that these multi-systemic manifestations are a result of mutations in the gene located at 17q22-24 coding protein kinase A, regulatory subunit 1-α (PRKAR-1-α). We report a case of recurrent (tumours detected at the ages of 12 and 20 years), multifocal myxomas with associated facial pigmentations and mucocutaneous angiomyxomas in a 20-year-old male. Screening for mutations in our patient by Sanger sequencing on whole genome amplified DNA revealed a heterozygous deletion at c.353_356delTACC as confirmed using forward and reverse primers. This has not been reported in PRKAR-1-α mutation database. Such a mutation was not seen in the immediate family members, indicating the sporadic nature of occurrence.