Retinal arterial macroaneurysm with supravalvular pulmonic stenosis

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Alternate names

RAMSVPS ; Familial retinal arterial macroaneurysm; FRAM; Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Definition

Familial retinal arterial macroaneurysm is a rare, genetic cardiac disease characterized by an early onset of retinal artery macro aneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.

NIH genetic and rare disease info

Retinal arterial macroaneurysm with supravalvular pulmonic stenosis is a rare disease.


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