A Novel Variant of Tuberosclerosis: c.2458A>T p.(Lys820*) in the TSC1 Gene 19th Exon

Abstract

Rhabdomyomas are the most common congenital heart tumors. Rhabdomyomas are hamartomas of myocytes and benign heart tumors. In the postnatal period, it may be asymptomatic, or there may be findings such as murmur, arrhythmia, heart failure, and even hydrops. Echocardiography (ECHO) is a very valuable method in its diagnosis. Rhabdomyomas can regress spontaneously. Rhabdomyoma of the heart is seen in 43-60% of tuberous sclerosis cases. Tuberous sclerosis is an autosomal dominant inherited neurocutaneous disease that causes the development of benign tumors called hamartoma in many systems such as brain, retina, kidneys, heart, skin and lungs. In this article, we wanted to contribute to the literature by presenting a new pathogenic c.2458A> T (p.Lys820Ter) variant that developed de novo in the TSC1 gene by genetic analysis of a patient with multiple cardiac rhabdomyomas.