Redefining Aging: A Tale of Hutchinson-Gilford Progeria Syndrome

J Assoc Physicians India. 2024 Oct;72(10):91-92. doi: 10.59556/japi.72.0702.

Abstract

The Hutchinson-Gilford syndrome, or progeria, is a rare genetic syndrome characterized by dwarfism, premature aging,and premature affection of the circulatory system (cardiovascular and cerebrovascular). Diagnosis is based on typical clinical and radiological features and confirmed by demonstration of mutation in the Lamin A gene. Our patient presented with heart failure with reduced ejection fraction secondary to degenerative valvular heart disease. He developed in-hospital bilateral anterior circulation watershed infarct and eventually succumbed to the illness. The present case is reported due to its rarity. It also intends to describe the pattern of cerebrovascular arteriopathy.

Publication types

  • Case Reports

MeSH terms

  • Aging / physiology
  • Fatal Outcome
  • Heart Failure / diagnosis
  • Heart Failure / etiology
  • Heart Failure / physiopathology
  • Humans
  • Male
  • Progeria* / diagnosis
  • Progeria* / genetics