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Pediatrics Genetic and genetic disorders 5f5d9279

Commonest cardiac lesion in tuberous sclerosis is

A
SD
B
VSD
C
Mitral stenosis
D
Rhabdomyoma
High-Yield Explanation
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome with a high incidence of sporadic cases and variable clinical expression. It has an estimated frequency of 1/6000. Major manifestations of TSC include skin lesions in more than 95%, autism and seizures in 85%, kidney disease in 60%, mental retardation in 50%, and cardiac rhabdomyoma in 50%.Mental retardation and autism are more in TSC patients who presents with generalized seizures including infantile spasms in the first 2 years of life. Reference: GHAI Essential pediatrics, 8th edition

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