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Published on: October 26, 2020
Severe renovascular hypertension in an infant with a SMAD3 gene variant
Marianna Lichosik1, Agata Błażejczyk2, Andrzej Biełanowicz2
1Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730, Warsaw, Poland.
Insights
This case highlights a young boy with severe hypertension and left ventricle hypertrophy due to renal artery stenosis. Genetic testing identified a SMAD3 variant, emphasizing the need for early genetic evaluation in pediatric hypertension.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Nephrology
Background:
- Renal artery stenosis is a significant cause of secondary hypertension in children.
- This condition can lead to hypertension-mediated organ damage, such as left ventricle hypertrophy.
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.
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