Redefining Aging: A Tale of Hutchinson–Gilford Progeria Syndrome

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.

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Journal
Journal of the Association of Physicians of India
Published
2024-10-01
DOI
https://doi.org/10.59556/japi.72.0702
Primary Topic
Nuclear Structure and Function
Type
article
Field-Weighted Citation Impact
0.00
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article

Redefining Aging: A Tale of Hutchinson–Gilford Progeria Syndrome

Shivam Mirg, Sangeeta Pednekar
Journal of the Association of Physicians of India
Nuclear Structure and Function
article

Redefining Aging: A Tale of Hutchinson–Gilford Progeria Syndrome

Shivam Mirg, Sangeeta Pednekar
article en

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.

Journal of the Association of Physicians of IndiaVol. 72(10)
Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College (IN), All India Institute of Medical Sciences (IN)
Good health and well-being
Openalex Percentile: Top 84%
Nuclear Structure and Function
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