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

    Research output: Contribution to journalArticleScientificpeer-review

    16 Citations (Scopus)

    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
    Number of pages7
    JournalPediatric Blood and Cancer
    Volume51
    Issue number4
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

    Fingerprint

    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.
    @article{e3d03be2b22d496c87242edbfd742bdd,
    title = "Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation",
    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.",
    keywords = "bone marrow failure, cardiology, cardiotoxicity, neutropenia, stem cell transplantation",
    author = "Sanna Toiviainen-Salo and Olli Pitk{\"a}nen and Miia Holmstr{\"o}m and Juha Koikkalainen and Jyrki L{\"o}tj{\"o}nen and Kirsi Lauerma and Merki Taskinen and Erkki Savilahti and Jeffrey Smallhorn and Outi M{\"a}kitie and Sari Kivist{\"o}",
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    volume = "51",
    pages = "461 -- 467",
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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 -

    Toiviainen-Salo S, Pitkänen O, Holmström M, Koikkalainen J, Lötjönen J, Lauerma K et al. Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation. Pediatric Blood and Cancer. 2008;51(4):461 - 467. https://doi.org/10.1002/pbc.21686