Severe renovascular hypertension in an infant with a SMAD3 gene variant.
Marianna Lichosik, Agata Błażejczyk, Andrzej Biełanowicz et al.
✦ AI-curated · Sources linked
Case in brief
A boy described at age 4 had severe renovascular hypertension beginning in infancy, with left ventricular hypertrophy as hypertension-mediated organ damage. Evaluation identified renal artery stenosis and a heterozygous SMAD3 variant of unknown significance; SMAD3 is linked to Loeys-Dietz syndrome. No aortic aneurysms had developed. Management included intensive pharmacotherapy and percutaneous intravascular intervention.
What made this case unusual
The SMAD3 variant coexisted with renal artery stenosis and severe early-onset hypertension, but without aortic aneurysms; its significance remained uncertain.
Diagnostic / clinical pearl
Severe hypertension and target-organ damage beginning early in life should prompt consideration of genetic evaluation to support diagnosis and management.