The DOI matches its Crossref record; 52 of the 52 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Meta-analysis in clinical trials
DerSimonian, R., & Laird, N. (1986) · Controlled Clinical Trials · doi:10.1016/0197-2456(86)90046-2 · Cited by 39,552
Quantifying heterogeneity in a meta‐analysis
Higgins, J. P. T., & Thompson, S. G. (2002) · Statistics in Medicine · doi:10.1002/sim.1186 · Cited by 36,763
Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography
Nagueh, S. F., Appleton, C. P., Gillebert, T. C., Marino, P. N., Oh, J. K., Smiseth, O. A., Waggoner, A. D., Flachskampf, F. A., Pellikka, P. A., & Evangelista, A. (2009) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2008.11.023 · Cited by 4,367
Survival in Patients with Primary Pulmonary Hypertension
D’Alonzo, G. E., Barst, R. J., Ayres, S. M., Bergofsky, E. H., Brundage, B. H., Detre, K. M., Fishman, A. P., Goldring, R. M., Groves, B. Μ., Kernis, J. T., et al. (1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-115-5-343 · Cited by 3,488
Recommendations for the evaluation of left ventricular diastolic function by echocardiography
Nagueh, S. F., Appleton, C. P., Gillebert, T. C., Marino, P. N., Oh, J. K., Smiseth, O. A., Waggoner, A. D., Flachskampf, F. A., Pellikka, P. A., & Evangelisa, A. (2008) · European Journal of Echocardiography · doi:10.1093/ejechocard/jep007 · Cited by 3,351
Pulmonary Hypertension as a Risk Factor for Death in Patients with Sickle Cell Disease
Gladwin, M. T., Sachdev, V., Jison, M. L., Shizukuda, Y., Plehn, J. F., Minter, K., Brown, B., Coles, W. A., Nichols, J. S., Ernst, I., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa035477 · Cited by 1,325
Kato, G. J., Gladwin, M. T., & Steinberg, M. H. (2007) · Blood Reviews · doi:10.1016/j.blre.2006.07.001 · Cited by 876
Kašner, M., Westermann, D., Paul Steendijk, A., Gaub, R., Wilkenshoff, U. M., Weitmann, K., Hoffmann, W. U., Poller, W. C., Schultheiss, H., Pauschinger, M., et al. (2007) · Circulation · doi:10.1161/circulationaha.106.661983 · Cited by 564
Outcome of Sickle Cell Anemia: A 4-Decade Observational Study of 1056 Patients
Powars, D. R., Chan, L. S., Hiti, A., Ramicone, E., & Johnson, C. (2005) · Medicine · doi:10.1097/01.md.0000189089.45003.52 · Cited by 558
A Hemodynamic Study of Pulmonary Hypertension in Sickle Cell Disease
Parent, F., Bachir, D., Inamo, J., Lionnet, F., Driss, F., Loko, G., Habibi, A., Bennani, S. L., Savale, L., Adnot, S., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1005565 · Cited by 511
Flagged first, then by citations
Cited by
Sorted by citations
Items 101–142 of 142
Pulmonary Hypertension in Children with Sickle Cell Disease: a Review of the Current Literature
Harrington, J. K., & Krishnan, U. (2019) · Current Pediatrics Reports · doi:10.1007/s40124-019-00188-3 · Cited by 1
A study of left ventricular diastolic dysfunction in patients of sickle cell disease
Shah, M., & Kothari, P. (2022) · International Journal of Advances in Medicine · doi:10.18203/2349-3933.ijam20220780 · Cited by 1
Grützediek, K., Fischer, R., Kurio, G. H., Boeckelmann, L., Bleeke, M., Hagar, R. W., Tahir, E., Grosse, R., Weyhmiller, M., Adam, G., et al. (2023) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.28623 · Cited by 1
Cardiovascular disease in Sickle cell: mechanisms, diagnostics and therapeutic advances
Haroun, E., Agrawal, A., Arockiam, A. D., Dahdah, J. E., Kassab, J. T., Nakhla, M., Helou, M. C. E., Sanaka, H., Zalaquett, Z., Kaur, S., et al. (2025) · Heart · doi:10.1136/heartjnl-2025-325837 · Cited by 1
Akinsete, A. M., Kalejaiye, O. O., Fakile, U. O., Adelabu, Y. A., Adeyemo, T. A., Ogbenna, A. A., Bamigboye, T. G., Aziken-john, B. N., Enegbuma, A., Olayiwola, Z., et al. (2026) · Hemoglobin · doi:10.1080/03630269.2026.2614371 · Cited by 1
Sickle cell related cardiomyopathy and cardiovascular autonomic dysfunction
Hartnett, J., Connolly, N., Quinn, S., Murphy, R. T., Tuohy, E., Curtain, J. P., Mogensen, J., Kenny, R. A., & Maree, A. O. (2026) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2026.1756623 · Cited by 2
The Cardiomyopathy of Sickle Cell Disease
Niss, O., & Quinn, C. T. (2016) · InTech eBooks · doi:10.5772/64321 · Cited by 1
Self-citationKim, M. J., Lee, G., Lima, G., Mukarram, O., Crooks, S., Marshall, K., & Kim, A. S. (2024) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2024.08.006 · Cited by 1
Pulmonary Hypertension in Sickle Cell Disease: Current Controversies and Clinical Practices
Savale, L., Humbert, M. J. C., & Klings, E. S. (2020) · Respiratory medicine · doi:10.1007/978-3-030-52787-7_8 · Cited by 1
Albakri, A. (2019) · Clinical and Medical Investigations · doi:10.15761/cmi.1000188
Menon, N., & Frei‐Jones, M. J. (2020) · Springer eBooks · doi:10.1007/978-3-030-49980-8_5
Complications chroniques au cours de la drépanocytose chez l’adulte
Morabito, A., & Jeune, S. L. (2021) · La Presse Médicale Formation · doi:10.1016/j.lpmfor.2021.09.019
Niss, O., Quinn, C. T., Daily, J. A., Khoury, P. R., Bakeer, N., Kimball, T. R., Towbin, J. A., Malik, P., & Taylor, M. D. (2016) · JACC. Cardiovascular imaging · doi:10.1016/j.jcmg.2016.05.010
Self-citationSmerling, J., Burns, J., Haimed, A., Ganigara, M., Appiah‐Kubi, A., Aygün, B., Mitchell, E., & Dhar, A. (2022) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2022.101517
Cladis, F. P., Blasiole, B., Anixter, M. B., Cain, J. G., & Davis, P. J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-323-42974-0.00031-8
Pérez, V. D. J. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734628296.793561120
Bull, T. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734628296.793568450
The Relationship between Sickle Cell Disease and Pulmonary Hypertension in Adults
Alabdo, M., Hussein, F., & Marouf, B. (2022) · International Journal of Medical Science · doi:10.14445/23939117/ijms-v9i2p101
The Relationship between Sickle Cell Disease and Pulmonary Hypertension in Adults
Alabdo, M., Hussein, F., & Marouf, B. (2022) · International Journal of Medical Science · doi:10.14445/23939117/ijms-v9i1p103
Wagdy, R. M., Fathy, A., Elnekidy, A., Salaheldin, G., Nazir, H. F., Fahmy, R., Elkafrawy, H., & Elkafrawy, F. R. (2023) · Research Square · doi:10.21203/rs.3.rs-2786311/v1
Sickle Cell Disease and the HeartPreprint
Akivis, Y., Seidman, I., Salciccioli, L. F., McFarlane, S. I., Wengrofsky, P., Muthu, J., Budzikowski, A. S., Khatun, N., & John, S. (2023) · Research Square · doi:10.21203/rs.3.rs-3040535/v1
Concurrent Spinal Trauma in Patients with Traumatic Head Injury: A Seven-Year Retrospective Analysis
He, W., & Pan, J. (2023) · Medical Science Monitor · doi:10.12659/msm.939215
Lemos, F. M. C. F., Ribeiro, M. L., & Martins, W. D. A. (2023) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2023.101677
Sickle cell disease: causes, treatments and the patient experience
Spurway, A., George, S., Thompson, C., Weeks, S., & Teo, X. Y. (2024) · Pharmaceutical journal/The pharmaceutical journal · doi:10.1211/pj.2023.1.205570
ANÁLISE ACERCA DA FISIOPATOLOGIA DA HIPERTENSÃO PULMONAR ASSOCIADA À ANEMIA FALCIFORME
Freire, R. J. B., Moreira, M. E. D., Schuchmann, A. Z., Noronha, M. V. P., Alves, T. F. R., Gomes, A. L. O. R., Filho, L. D. S., Andrade, A. P. B., Custódio, S. S. F., Júnior, J. I. S., et al. (2024) · Revista Contemporânea · doi:10.56083/rcv4n8-153
Pistoia, L., Meloni, A., Positano, V., Quota, A., Corigliano, E., Messina, G., Renne, S., Zerbini, M., Romani, S., Sinagra, G., et al. (2024) · Diagnostics · doi:10.3390/diagnostics14242816
Manifestations en imagerie de la drépanocytose
Kabas, R. M., Ngom, K., Fornes, M., Elaoud, K., Diabaté, A., & Hoeffel, C. C. (2025) · Journal d imagerie diagnostique et interventionnelle · doi:10.1016/j.jidi.2025.01.002
Review of cardiovascular complications in children with sickle cell disease
Jha, S. K., Ha, L. J., Bassett, M., Silar, A., Gilner, B. L., Gajendran, I., & Marri, P. R. (2025) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2025.101836
Sickle Cell Cardiomyopathy: An Evolving Cardiovascular Phenotype
Ndakotsu, A. K., Asuka, E., Sanusi, M., Nduka, T., Mamoh, U. N., Agu, I., Akhiwu, T. O., & Patel, M. A. (2025) · SN Comprehensive Clinical Medicine · doi:10.1007/s42399-025-01951-y
Martinez, H. R., Ryan, K. A., Absi, M. A., & Towbin, J. A. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-13279-7.00019-5
Self-citationRenal complications in pediatric sickle cell disease: results from a single-center study
Marchesani, S., Antonucci, L., Scaramuzzino, F., Schettini, L., Mauro, M. D., Fini, F., Palumbo, G., & Ceglie, G. (2026) · Annals of Hematology · doi:10.1007/s00277-026-07017-w
Ruther, S. E., Towbin, R. B., Schaefer, C. M., Goncalves, L., & Towbin, A. J. (2026) · Applied Radiology · doi:10.37549/jpcr-25-0039
The many facets of cardiopulmonary complications in sickle cell disease
d’Humières, T., Jeune, S. L., Luna, G. D., Moulin, T., Boyer, L., Derbel, H., Iles, S., Lellouche, N., Fiore, A., Dérumeaux, G., et al. (2026) · Seminars in Hematology · doi:10.1053/j.seminhematol.2026.05.007
Mustafa, A. E. M., & Ali, N. M. T. (2026) · Healthcare · doi:10.3390/healthcare14142180
Seck, M., Kaltam, A. Y. H., Touré, S. A., Bichara-Digui, A. Y., Aboubakar, A. M., Diallo, A. B., Faye, B. F., Dieng, F., Bodian, M., & Diop, S. (2026) · Blood Global Hematology · doi:10.1016/j.bglo.2026.100132
Lesser-known medication safety considerations in sickle cell disease
Galadanci, N., & Kanter, J. (2026) · Expert Opinion on Drug Safety · doi:10.1080/14740338.2026.2719768
Equidade e Representatividade em Imagem Cardiovascular: Um Imperativo Científico, Não Ideológico
Calheiros, E. C., Veloso, J. S., Junior, A. N. A., & Araújo-Filho, J. D. A. B. (2026) · ARQUIVOS BRASILEIROS DE CARDIOLOGIA - IMAGEM CARDIOVASCULAR · doi:10.36660/abcimg.20260094
Equity and Representation in Cardiovascular Imaging: A Scientific Imperative, Not an Ideological One
Calheiros, E. C., Veloso, J. S., Junior, A. N. A., & Araújo-Filho, J. D. A. B. (2026) · ARQUIVOS BRASILEIROS DE CARDIOLOGIA - IMAGEM CARDIOVASCULAR · doi:10.36660/abcimg.20260094i
Zhou, N., Sun, Y., Wei, X., Liang, W., Meng, F., Ge, Z., Sun, M., Cui, X., Zhang, S., Pan, C., et al. (2026) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70323
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
