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Familial retinal arterial macroaneurysm

ORPHA:284247· ICD-10 H35.0

Definition

A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood