Cardiac abnormalities in patients with Hutchinson-Gilford progeria syndrome
Open accessAbstract
Importance: Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare disorder associated with premature death due to cardiovascular events during the second decade of life. However, because of its rarity (107 identified living patients), the natural history of cardiac disease remains uncharacterized. Therefore, meaningful cardiac end points for clinical trials have been difficult to establish. Objective: To examine the course of appearance of cardiac abnormalities in patients with HGPS to identify meaningful cardiac end points for use in future clinical trials. Design, Setting, and Participants: In this prospective, cross-sectional, observational study, 27 consecutive patients with clinically and genetically confirmed classic HGPS were evaluated at a single center for 1 visit from July 1, 2014, through February 29, 2016, before initiation of treatment. Exposure: Classic HGPS. Main Outcomes and Measures: Echocardiography was used to assess ventricular and valve function using standard techniques. Diastolic left ventricular (LV) function was assessed using tissue Doppler imaging. Previously published normative data were used to adjust findings to age and body size. Results: This study included 27 patients (median age, 5.6 years; age range, 2-17 years; 15 [56%] male). Among echocardiographic indicators, LV diastolic dysfunction, defined as a tissue Doppler septal or lateral early velocity z score less than -2, was the most prevalent abnormality, seen in 16 patients (59%). Diastolic dysfunction was seen in all age groups, and its prevalence increased with age, mirroring findings seen during normal aging. Indicators of LV diastolic function were more abnormal in older patients. The z scores for lateral and septal early velocities were lower (r = -0.77, P < .001; and r = -0.66, P < .001, respectively), whereas those for the ratio of early mitral inflow velocity to early diastolic tissue Doppler myocardial velocity were higher (r = 0.80, P < .001; and r = 0.72, P < .001, respectively) in older patients. Other echocardiographic findings, including LV hypertrophy, LV systolic dysfunction, and valve disease, were less prevalent in the first decade and were seen more frequently in the second decade. Conclusions and Relevance: In this largest-to-date cohort of patients with HGPS, LV diastolic dysfunction was the most prevalent echocardiographic abnormality and its prevalence increased with aging. Echocardiographic indicators of LV diastolic function may be useful end points in future clinical trials in this patient population.
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Patients with Hutchinson-Gilford progeria suffer from myocardial infarction or stroke in the absence of classical risk factors at the mean age of 13 years.
“Patients with HGS suffer from myocardial infarction or stroke in the absence of classical risk factors at the mean age of 13 years.128”
From Senescence-induced inflammation: an important player and key therapeutic target in atherosclerosis (2020) · cites this paper as [128]
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- Authors
- Prakash, A., Gordon, L. B., Kleinman, M. E., Gurary, E. B., Massaro, J., D’Agostino, R., Kieran, M. W., Gerhard-Herman, M., & Smoot, L.
- Affiliations
- Boston Children's Hospital (US)
- Boston University (US)
- Department of Cardiovascular Medicine, Brigham and Women’s Hospital, Boston, Massachusetts
- Corresponding author
- Prakash, Ashwin
- ORCID
- Venue
- JAMA Cardiology
- Publisher
- American Medical Association (AMA)
- Published
- 2018-04-01
- Volume
- 3
- Issue
- 4
- Pages
- 326
- ISSN
- 2380-6583 (ISSN-L)
- PMC
- PMC5875332
- OpenAlex
- W2792203963
- Cited by
- 98
- References
- 33
- Citations by year
- 2026: 4 · 2025: 18 · 2024: 12 · 2023: 18 · 2022: 6 · 2021: 11 · 2020: 13 · 2019: 12 · 2018: 4
- FWCI
- 3.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA Cardiology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (UL1TR001102)
- National Heart, Lung, and Blood Institute (RC2HL101631)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Function and Risk Factors
- Keywords
- Hutchinson-Gilford progeria syndrome, cardiac anomalies, left ventricular diastolic dysfunction, tissue Doppler imaging, left ventricular hypertrophy, valvular heart disease, premature cardiovascular disease, pediatric patients, cardiac aging, LMNA mutations, premature aging, mitral inflow
- MeSH terms
- Adolescent, Blood Pressure, Child, Child, Preschool, Cross-Sectional Studies, Echocardiography, Electrocardiography, Female, Heart, Heart Murmurs, Humans, Male, Myocardium, Progeria, Prospective Studies, Pulse Wave Analysis
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