Abstract
Familial myxomas constitute 7 % of the total myxoma population exhibiting Mendelian autosomal dominant inheritance. We present a rare case of autosomal dominant benign familial myxoma occurring in three generations of the family operated successfully at our institute. A 40-year-old female presented with chest pain and palpitation, was diagnosed with left atrial myxoma, and was operated in 1993. After 2 years of surgery, the patient developed recurrent myxoma, and excision was done in 1995. A 22-year-old son complained of dyspnoea and chest pain. On evaluation, 5.6 × 2.6 cm right atrial myxoma attached to the roof of the right atrium was found, and the patient underwent myxoma excision in 2007. A 3-year-old granddaughter suffered from right hemiplegia. Echocardiography revealed left atrial myxoma 3 cm × 2 cm pedunculated lesion causing diastolic obstruction of mitral inflow. Operated patients in all three generations and other siblings have been genetically screened. On genetic evaluation, all diseased had autosomal dominant single-gene defect or microdeletion. Atrial myxomas presented at earlier age successively and in more aggressive form in these three generations.
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