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Introduction <p>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).</p> Case report/treatment <p>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 <i>SMAD3</i>, a gene linked to Loeys-Dietz syndrome. The patient was treated with intensive pharmacotherapy and percutaneous intravascular intervention.</p> Conclusions <p>Early onset of HTN and HMOD should prompt consideration of genetic evaluation to aid diagnosis and management. In this case, a heterozygous <i>SMAD3</i> variant coexisted with renal artery stenosis without the development of aortic aneurysms.</p>

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Severe renovascular hypertension in an infant with a SMAD3 gene variant

  • 期刊论文

  • 发表日期：

    2026年3月17日

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  • Marianna Lichosik,
  • Agata Błażejczyk,
  • Andrzej Biełanowicz,
  • Jan Koziej,
  • Łukasz Obrycki,
  • Mieczysław Litwin

摘要

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.