Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction
| Autor: | Joan Moore, Thomas J. Ryan, Erica Goodridge, Leann Mount, Audrey Anna Bolyard, Barbara Otto, Amanda L. Jones, Clifford Chin, Richard E. Harris, Joshua J. Sticka, Akiko Shimamura, John L. Jefferies, Kasiani C. Myers, Michael D. Taylor, Stella M. Davies |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male medicine.medical_specialty genetic structures Adolescent Lipomatosis Heart Ventricles Cardiomyopathy Article Ventricular Dysfunction Left Young Adult Internal medicine Medicine Humans Exocrine pancreatic insufficiency Child Bone Marrow Diseases Retrospective Studies Shwachman–Diamond syndrome Ejection fraction business.industry Bone marrow failure Infant Retrospective cohort study Hematology medicine.disease Prognosis Shwachman-Diamond Syndrome Oncology Echocardiography Heart failure Child Preschool Pediatrics Perinatology and Child Health Cardiology Exocrine Pancreatic Insufficiency Female business Follow-Up Studies |
| Zdroj: | Pediatric bloodcancer. 62(7) |
| ISSN: | 1545-5017 |
| Popis: | Background Shwachman–Diamond Syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure and exocrine pancreatic dysfunction. Heart failure has been described in patients with SDS. Circumferential strain (ecc) is a measure of cardiac performance that may identify dysfunction when standard measures are normal. Procedures Patients with SDS were identified and the echocardiographic database queried. Cardiac anatomy and function were recorded, and ecc was measured retrospectively. Results From 1995–2013, 27 patients with biallelic SBDS mutations confirming the diagnosis of SDS were identified at our institution: 14 had at least one echocardiogram available; 10 underwent HSCT, with echocardiograms available in nine. Ejection fraction (EF) was normal in all 14 patients evaluated; however, ecc was decreased in 4/12 studies prior to HSCT. In two patients, ecc was abnormal both before and after HSCT, in one, ecc changed from normal to abnormal after HSCT, and in one, ecc was normal after HSCT despite being abnormal prior. Echocardiogram reports were also available for six patients in the North American SDS registry, all with normal EF. Conclusions While EF was normal in all patients with SDS, ecc was abnormal in 33% prior to HSCT and 33% of those who had undergone HSCT. This suggests that SDS is associated with systolic dysfunction. Further studies are needed to define the incidence of dysfunction in this group and the progression to heart failure. Pediatr Blood Cancer 2015;62:1228–1231. © 2015 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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