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<p>Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in <i>SMAD4</i> gene suggesting Myhre syndrome. Hypertension was controlled with three anti-hypertensive agents and vascular intervention is planned. It is characterized by a multisystem connective tissue disorder associated with progressive fibrosis of skin, cardiovascular, musculoskeletal, gastrointestinal and respiratory systems. This case highlights the need for recognizing syndromic features in children with renovascular hypertension.</p>

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Thick skin and thicker arteries: case report on a rare cause of hypertension

  • 期刊论文

  • 发表日期：

    2025年1月27日

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  • Georgie Mathew,
  • Srinivasavaradan Govindarajan,
  • Swathi Kiran Shiri,
  • Deepthi RV,
  • Gurijala Phaneendra Rao,
  • Indira Agarwal

摘要

Renovascular hypertension is the second leading cause of hypertension. Twenty-seven genes have been attributed to monogenic renovascular hypertension at present. We present a 15-year-old boy with facial dysmorphism, thick skin and renovascular hypertension with a novel gain-of-function variant in SMAD4 gene suggesting Myhre syndrome. Hypertension was controlled with three anti-hypertensive agents and vascular intervention is planned. It is characterized by a multisystem connective tissue disorder associated with progressive fibrosis of skin, cardiovascular, musculoskeletal, gastrointestinal and respiratory systems. This case highlights the need for recognizing syndromic features in children with renovascular hypertension.