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Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis


Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, India

Correspondence Address:
Ganigara Madhusudan
Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Jayanagar 9th Block, Bannerghatta Road, Bangalore 560 069, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.84670

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Year : 2011  |  Volume : 4  |  Issue : 2  |  Page : 204-206

 

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.






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Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Bangalore, India

Correspondence Address:
Ganigara Madhusudan
Department of Pediatric Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences and Research, Jayanagar 9th Block, Bannerghatta Road, Bangalore 560 069, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.84670

Rights and Permissions

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical features that were observed in the patient. All patients with this condition should undergo early and periodic evaluation for cardiovascular diseases. However, the prognosis is poor and management is mainly conservative. There is no proven therapy available. Mortality in this uniformly fatal condition is primarily due to myocardial infarction, strokes or congestive cardiac failure between ages 7 and 21 years due to the rapidly progressive arteriosclerosis involving the large vessels.






[FULL TEXT] [PDF]*


        
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