Intracardiac myxoma of unusual topography and rare clinical presentation in the context of congenital polymalformative syndrome: a case report

Rare congenital syndromes of ectrodactyly and ectodermal dysplasia have been described in the literature with various atypical plurisystemic malformations. However, cardiac involvement has rarely been described and the presence of right atrial myxoma has never been reported. This clinical case demonstrates the possible association between rare congenital syndromes of ectrodactyly and ectodermal dysplasia with the development of intracardiac myxoma. The potential tumorigenic role of variants in tumour suppressor genes, involved in urinary tract and limb development, may explain the onset of cardiac myxoma in the context of ectrodactyly and ectodermal dysplasia syndrome.