Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation

Sanna Toiviainen-Salo (Corresponding Author), Olli Pitkänen, Miia Holmström, Juha Koikkalainen, Jyrki Lötjönen, Kirsi Lauerma, Merki Taskinen, Erkki Savilahti, Jeffrey Smallhorn, Outi Mäkitie, Sari Kivistö

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Abstract

Background

Early studies have suggested increased risk of fatal cardiac complications in infants with Shwachman–Diamond syndrome (SDS), an inherited bone marrow failure syndrome. Patients undergoing stem cell transplantation (STC) have appeared susceptible to organ toxicity, including cardiac involvement.

Procedure

This study assessed anatomical and functional features of the heart in SDS. Eight patients (mean age 24.1 years, range 7–37 years, seven males) with SDS and confirmed SBDS mutations were prospectively assessed for cardiac anatomy, myocardial wall properties, and systolic and diastolic function. The study protocol included conventional echocardiography (n = 8) complemented by exercise Tissue‐Doppler echocardiography (n = 7), and by MRI (n = 6).

Results

No abnormalities in cardiac anatomy or function were observed in baseline clinical assessment, EKG, or conventional echocardiographic and MRI measurements. Myocardial structure and left ventricular (LV) mass were normal. The maximum isovolumic acceleration (IVA) value during exercise in Tissue‐Doppler was significantly lower (P < 0.001), and the right ventricular (RV) ejection fraction (P = 0.02) and peak filling rate (PFR, P = 0.008) at rest in MRI were higher in patients.

Conclusions

Children and young adults with SDS and mutations in SBDS had normal cardiac anatomy and myocardial structure. Subtle RV diastolic function alterations at rest and depressed LV contractility during exercise were observed. Further studies are warranted to evaluate the clinical importance of these findings.

Original languageEnglish
Pages (from-to)461-467
JournalPediatric Blood and Cancer
Volume51
Issue number4
DOIs
Publication statusPublished - 2008
MoE publication typeA1 Journal article-refereed

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Stem Cell Transplantation
Anatomy
Exercise
Echocardiography
Right Ventricular Function
Mutation
Stroke Volume
Young Adult
Electrocardiography
Shwachman syndrome

Keywords

  • bone marrow failure
  • cardiology
  • cardiotoxicity
  • neutropenia
  • stem cell transplantation

Cite this

Toiviainen-Salo, S., Pitkänen, O., Holmström, M., Koikkalainen, J., Lötjönen, J., Lauerma, K., ... Kivistö, S. (2008). Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation. Pediatric Blood and Cancer, 51(4), 461-467. https://doi.org/10.1002/pbc.21686
Toiviainen-Salo, Sanna ; Pitkänen, Olli ; Holmström, Miia ; Koikkalainen, Juha ; Lötjönen, Jyrki ; Lauerma, Kirsi ; Taskinen, Merki ; Savilahti, Erkki ; Smallhorn, Jeffrey ; Mäkitie, Outi ; Kivistö, Sari. / Myocardial function in patients with Shwachman-Diamond syndrome : Aspects to consider before stem cell transplantation. In: Pediatric Blood and Cancer. 2008 ; Vol. 51, No. 4. pp. 461-467.
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abstract = "Background Early studies have suggested increased risk of fatal cardiac complications in infants with Shwachman–Diamond syndrome (SDS), an inherited bone marrow failure syndrome. Patients undergoing stem cell transplantation (STC) have appeared susceptible to organ toxicity, including cardiac involvement. Procedure This study assessed anatomical and functional features of the heart in SDS. Eight patients (mean age 24.1 years, range 7–37 years, seven males) with SDS and confirmed SBDS mutations were prospectively assessed for cardiac anatomy, myocardial wall properties, and systolic and diastolic function. The study protocol included conventional echocardiography (n = 8) complemented by exercise Tissue‐Doppler echocardiography (n = 7), and by MRI (n = 6). Results No abnormalities in cardiac anatomy or function were observed in baseline clinical assessment, EKG, or conventional echocardiographic and MRI measurements. Myocardial structure and left ventricular (LV) mass were normal. The maximum isovolumic acceleration (IVA) value during exercise in Tissue‐Doppler was significantly lower (P < 0.001), and the right ventricular (RV) ejection fraction (P = 0.02) and peak filling rate (PFR, P = 0.008) at rest in MRI were higher in patients. Conclusions Children and young adults with SDS and mutations in SBDS had normal cardiac anatomy and myocardial structure. Subtle RV diastolic function alterations at rest and depressed LV contractility during exercise were observed. Further studies are warranted to evaluate the clinical importance of these findings.",
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Toiviainen-Salo, S, Pitkänen, O, Holmström, M, Koikkalainen, J, Lötjönen, J, Lauerma, K, Taskinen, M, Savilahti, E, Smallhorn, J, Mäkitie, O & Kivistö, S 2008, 'Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation', Pediatric Blood and Cancer, vol. 51, no. 4, pp. 461-467. https://doi.org/10.1002/pbc.21686

Myocardial function in patients with Shwachman-Diamond syndrome : Aspects to consider before stem cell transplantation. / Toiviainen-Salo, Sanna (Corresponding Author); Pitkänen, Olli; Holmström, Miia; Koikkalainen, Juha; Lötjönen, Jyrki; Lauerma, Kirsi; Taskinen, Merki; Savilahti, Erkki; Smallhorn, Jeffrey; Mäkitie, Outi; Kivistö, Sari.

In: Pediatric Blood and Cancer, Vol. 51, No. 4, 2008, p. 461-467.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Myocardial function in patients with Shwachman-Diamond syndrome

T2 - Aspects to consider before stem cell transplantation

AU - Toiviainen-Salo, Sanna

AU - Pitkänen, Olli

AU - Holmström, Miia

AU - Koikkalainen, Juha

AU - Lötjönen, Jyrki

AU - Lauerma, Kirsi

AU - Taskinen, Merki

AU - Savilahti, Erkki

AU - Smallhorn, Jeffrey

AU - Mäkitie, Outi

AU - Kivistö, Sari

PY - 2008

Y1 - 2008

N2 - Background Early studies have suggested increased risk of fatal cardiac complications in infants with Shwachman–Diamond syndrome (SDS), an inherited bone marrow failure syndrome. Patients undergoing stem cell transplantation (STC) have appeared susceptible to organ toxicity, including cardiac involvement. Procedure This study assessed anatomical and functional features of the heart in SDS. Eight patients (mean age 24.1 years, range 7–37 years, seven males) with SDS and confirmed SBDS mutations were prospectively assessed for cardiac anatomy, myocardial wall properties, and systolic and diastolic function. The study protocol included conventional echocardiography (n = 8) complemented by exercise Tissue‐Doppler echocardiography (n = 7), and by MRI (n = 6). Results No abnormalities in cardiac anatomy or function were observed in baseline clinical assessment, EKG, or conventional echocardiographic and MRI measurements. Myocardial structure and left ventricular (LV) mass were normal. The maximum isovolumic acceleration (IVA) value during exercise in Tissue‐Doppler was significantly lower (P < 0.001), and the right ventricular (RV) ejection fraction (P = 0.02) and peak filling rate (PFR, P = 0.008) at rest in MRI were higher in patients. Conclusions Children and young adults with SDS and mutations in SBDS had normal cardiac anatomy and myocardial structure. Subtle RV diastolic function alterations at rest and depressed LV contractility during exercise were observed. Further studies are warranted to evaluate the clinical importance of these findings.

AB - Background Early studies have suggested increased risk of fatal cardiac complications in infants with Shwachman–Diamond syndrome (SDS), an inherited bone marrow failure syndrome. Patients undergoing stem cell transplantation (STC) have appeared susceptible to organ toxicity, including cardiac involvement. Procedure This study assessed anatomical and functional features of the heart in SDS. Eight patients (mean age 24.1 years, range 7–37 years, seven males) with SDS and confirmed SBDS mutations were prospectively assessed for cardiac anatomy, myocardial wall properties, and systolic and diastolic function. The study protocol included conventional echocardiography (n = 8) complemented by exercise Tissue‐Doppler echocardiography (n = 7), and by MRI (n = 6). Results No abnormalities in cardiac anatomy or function were observed in baseline clinical assessment, EKG, or conventional echocardiographic and MRI measurements. Myocardial structure and left ventricular (LV) mass were normal. The maximum isovolumic acceleration (IVA) value during exercise in Tissue‐Doppler was significantly lower (P < 0.001), and the right ventricular (RV) ejection fraction (P = 0.02) and peak filling rate (PFR, P = 0.008) at rest in MRI were higher in patients. Conclusions Children and young adults with SDS and mutations in SBDS had normal cardiac anatomy and myocardial structure. Subtle RV diastolic function alterations at rest and depressed LV contractility during exercise were observed. Further studies are warranted to evaluate the clinical importance of these findings.

KW - bone marrow failure

KW - cardiology

KW - cardiotoxicity

KW - neutropenia

KW - stem cell transplantation

U2 - 10.1002/pbc.21686

DO - 10.1002/pbc.21686

M3 - Article

VL - 51

SP - 461

EP - 467

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

SN - 1545-5009

IS - 4

ER -