Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction

Pediatric Blood & Cancer
Thomas D RyanKasiani C Myers

Abstract

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 (ε(cc)) is a measure of cardiac performance that may identify dysfunction when standard measures are normal. Patients with SDS were identified and the echocardiographic database queried. Cardiac anatomy and function were recorded, and ε(cc) was measured retrospectively. 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, ε(cc) was decreased in 4/12 studies prior to HSCT. In two patients, ε(cc) was abnormal both before and after HSCT, in one, ε(cc) changed from normal to abnormal after HSCT, and in one, ε(cc) 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. While EF was normal in all patients with SDS, ε(cc) was abnormal in 33% prior to HSCT and 33%...Continue Reading

References

Sep 1, 1984·Acta paediatrica Scandinavica·E Savilahti, J Rapola
Jun 13, 2009·Journal of the American College of Cardiology·Edward T H Yeh, Courtney L Bickford
Jul 27, 2010·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Laurens P KoopmanLuc Mertens
Nov 26, 2010·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Laurens P KoopmanMark K Friedberg
Mar 12, 2011·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Karen A MarcusLivia Kapusta
Apr 14, 2011·Cardiology in the Young·Liliane KopelSilvia G Lage
Nov 19, 2011·European Heart Journal Cardiovascular Imaging·Otto A SmisethHelge Skulstad
May 15, 2012·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Joseph T PoteruchaBenjamin W Eidem
Nov 21, 2012·International Journal of Cardiology·Quentin HauetJean Donadieu
Jan 29, 2013·Hematology/oncology Clinics of North America·Kasiani C MyersAkiko Shimamura
Jun 14, 2013·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Edythe B ThamRichard B Thompson
Oct 8, 2013·Circulation. Cardiovascular Imaging·Olga H Toro-SalazarKan N Hor
Sep 10, 2014·European Heart Journal Cardiovascular Imaging·Koen AmelootMarion Delcroix
Dec 24, 2014·Journal of the American College of Cardiology·Jae K Oh, Barry A Borlaug

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