Peer-reviewed article
Severe renovascular hypertension in an infant with a SMAD3 gene variant.
Marianna Lichosik, Agata Błażejczyk, Andrzej Biełanowicz, Jan Koziej, Łukasz Obrycki et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a clinical case report describing a single 4-year-old boy with severe high blood pressure caused by renal artery narrowing and a genetic variant in the SMAD3 gene. The child developed heart muscle thickening and was treated with medications and a minimally invasive procedure. The report suggests that genetic testing should be considered in children with early-onset high blood pressure and heart complications.
Key points
- A 4-year-old with severe renovascular hypertension and left ventricular hypertrophy was found to have a SMAD3 gene variant
- The patient was treated with intensive pharmacotherapy and percutaneous intravascular intervention
- Early onset hypertension and organ damage should prompt genetic evaluation
Limitations
This is a single case report describing one child's clinical presentation and treatment, so it cannot demonstrate whether approaches are effective more broadly or provide generalizable evidence about outcomes. The study does not evaluate an intervention's effectiveness against a comparison group or population.
Abstract
INTRODUCTION: Renal artery stenosis is one of the severe secondary hypertension (HTN) causes in children and may lead to hypertension-mediated organ damage (HMOD), including left ventricle hypertrophy (LVH). CASE REPORT/TREATMENT: We describe a case of a 4-year-old boy with severe renovascular HTN and LVH during infancy. Genetic testing revealed variant of unknown significance in SMAD3, a gene linked to Loeys-Dietz syndrome. The patient was treated with intensive pharmacotherapy and percutaneous intravascular intervention. CONCLUSIONS: Early onset of HTN and HMOD should prompt consideration of genetic evaluation to aid diagnosis and management. In this case, a heterozygous SMAD3 variant coexisted with renal artery stenosis without the development of aortic aneurysms.