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Cardiomyopathy With Restrictive Physiology in Sickle Cell Disease
Open accessAbstract
Objectives The aim of this study was to identify a unifying cardiac pathophysiology that explains the cardiac pathological features in sickle cell disease (SCD).Background Cardiopulmonary complications, the leading cause of adult death in SCD, are associated with heart chamber dilation, diastolic dysfunction, elevated tricuspid regurgitant jet velocity (TRV), and pulmonary hypertension. However, no unifying cardiac pathophysiology has been identified to explain these findings.Methods In a 2-part study, we first examined patients with SCD who underwent screening echocardiography during steady state at our institution. We then conducted a meta-analysis of cardiac studies in SCD.Results In the 134 patients with SCD studied (median age 11 years), significant enlargement of the left atrial volume was present (z-score 3.1, p = 0.002), shortening fraction was normal (37.6 ± 4.7%), and lateral and septal ratios of mitral velocity to early diastolic velocity of the mitral annulus (E/e') were severely abnormal in 8% and 14% of patients, respectively, indicating impaired diastolic function. Both TRV and lateral E/e' correlated with enlarged left atrial volume in SCD (p = 0.003 and p = 0.006, respectively). Meta-analysis of 68 studies confirmed significant left atrial diameter enlargement in patients with SCD compared with controls, evidence of diastolic dysfunction and enlarged left ventricular end-diastolic dimension with normal shortening fraction. The majority of patients with catheter-confirmed pulmonary hypertension had mild pulmonary venous hypertension consistent with restrictive cardiac physiology.Conclusions Patients with SCD have a unique form of cardiomyopathy with restrictive physiology that is superimposed on hyperdynamic physiology and is characterized by diastolic dysfunction, left atrial dilation, and normal systolic function. This combination results in mild, secondary, pulmonary venous hypertension and elevated TRV. Sudden death is common in other forms of restrictive cardiomyopathy. Our finding of this unique restrictive cardiomyopathy may explain the increased mortality rates and sudden death seen in patients with SCD with mildly elevated TRV.
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“Recent studies in SCD mice further highlight the importance of diastolic dysfunction in SCD, and myocardial fibrosis is reported to occur both in these mice and in patients (the latter measured by extracellular volume using cardiac MRI imaging) (197–199).”
From Pathophysiology of Sickle Cell Disease (2019) · cites this paper as [198]
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Haemodynamic definitions and updated clinical classification of pulmonary hypertension
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Pathophysiology of Sickle Cell Disease
Sundd, P., Gladwin, M. T., & Novelli, E. M. (2019) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012418-012838 · Cited by 813
Intravascular hemolysis and the pathophysiology of sickle cell disease
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Metadata
- Authors
- Niss, O., Quinn, C. T., Lane, A., Daily, J., Khoury, P. R., Bakeer, N., Kimball, T. R., Towbin, J. A., Malik, P., & Taylor, M. D.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- Corresponding author
- Niss, Omar
- ORCID
- Venue
- JACC: Cardiovascular Imaging
- Publisher
- Elsevier BV
- Published
- 2016-03
- Volume
- 9
- Issue
- 3
- Pages
- 243-252
- ISSN
- 1876-7591 (ISSN-L)
- 1936-878X
- PMC
- PMC4788530
- OpenAlex
- W2276952480
- Cited by
- 142
- References
- 52
- Citations by year
- 2026: 12 · 2025: 9 · 2024: 10 · 2023: 15 · 2022: 16 · 2021: 15 · 2020: 10 · 2019: 20 · 2018: 10 · 2017: 15 · 2016: 9
- FWCI
- 2.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- JACC. Cardiovascular imaging (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Amgen
- Eli Lilly and Company
- National Institutes of Health (5u01hl117709-05, UL1TR001425)
- National Heart, Lung, and Blood Institute (U01-HL117709, UO1-HL117709, R01HL112603)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Function and Risk Factors
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Keywords
- sickle cell disease, restrictive cardiomyopathy, diastolic dysfunction, left atrial enlargement, tricuspid regurgitation velocity, pulmonary venous hypertension, pulmonary hypertension, left ventricular end-diastolic diameter, sudden death, cardiac pathophysiology
- MeSH terms
- Adolescent, Anemia, Sickle Cell, Child, Female, Humans, Hypertension, Pulmonary, Male, Cardiomyopathies, Predictive Value of Tests, Prognosis, Pulmonary Veins, Retrospective Studies, Risk Factors, Tricuspid Valve, Venous Pressure, Echocardiography, Doppler, Ventricular Function, Right, Atrial Function, Left, Hypertrophy, Left Ventricular, Ventricular Dysfunction, Left, Arterial Pressure
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