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Invited Commentary
April 2018

Left Ventricular Diastolic Dysfunction in Hutchinson-Gilford Progeria Syndrome

Author Affiliations
  • 1Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia
  • 2Cardiology Department, St Vincent’s Hospital, Darlinghurst, New South Wales, Australia
  • 3Faculty of Medicine, University of New South Wales, Kensington, New South Wales, Australia
JAMA Cardiol. 2018;3(4):334-335. doi:10.1001/jamacardio.2017.5377

Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disorder that affects approximately 1 in 4 to 8 million newborn infants.1,2 Affected individuals present with failure to thrive and a progeroid appearance, with progressive manifestation of short stature, bone and joint abnormalities, and subcutaneous fat loss.1,2 This disorder is invariably fatal in the midteenage years owing to myocardial infarction or stroke associated with severe accelerated atherosclerosis. Because of the extreme rarity of HGPS, relatively little is known about the full spectrum and outcomes of cardiovascular complications. In this issue of JAMA Cardiology, Prakash et al3 report the results of echocardiographic analyses undertaken in 27 patients with HGPS who were aged 2 to 17 years. The presence of left ventricular (LV) diastolic dysfunction in nearly two-thirds of the participants was a novel and surprising finding.

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