High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
Abstract: Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is potentially cardiotoxic. High-sensitive cardiac troponin I (hs-cTnI) is widely used to monitor potential cardiac contraindications or side effects of GRT, but reference data in healthy newborns are limited and lacking in neonates with SMA. The aim of this study is to determine the range of pre-therapeutic hs-cTnI concentrations in neonates with SMA and to provide guidance for the assessment of these values.
Methods: Hs-cTnI levels, genetic and clinical data of 30 newborns (age range 2–26 days) with SMA were retrospectively collected from 6 German neuromuscular centers. In addition, hs-cTnI levels were measured in 16 neonates without SMA.
Results: The median hs-cTnI concentration in neonates with SMA was 39.5 ng/L (range: 4–1205). In 16 newborns with SMA, hs-cTnI levels were above the test-specific upper reference limit (URL). Exploratory statistical analysis revealed no relevant correlation between hs-cTnI levels and gender, gestational age, mode of delivery, SMN2 copy number, symptoms of SMA or abnormal cardiac findings.
Discussion: Our results suggest higher hs-cTnI plasma levels in newborns with and without SMA compared to assay-specific reference values generated in adults. Given the wide range of hs-cTnI values in neonates with SMA, hs-cTnI levels must be determined before treatment in each patient and post-treatment elevations should be interpreted in the context of the course rather than as individual values
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Frontiers in pediatrics. - 11 (2023) , 1259293, ISSN: 2296-2360
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
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Universität
- (when)
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2023
- Creator
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Johannsen, Jessika
Weiss, Deike
Driemeyer, Joenna
Olfe, Jakob Justus
Stute, Fridrike
Müller, Ferdinand
Schütt, Marion
Trollmann, Regina
Kölbel, Heike
Schara, Ulrike
Kirschner, Janbernd
Pechmann, Astrid
Blaschek, Astrid
Horber, Veronka
Denecke, Jonas
- DOI
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10.3389/fped.2023.1259293
- URN
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urn:nbn:de:bsz:25-freidok-2416528
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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25.03.2025, 1:53 PM CET
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Johannsen, Jessika
- Weiss, Deike
- Driemeyer, Joenna
- Olfe, Jakob Justus
- Stute, Fridrike
- Müller, Ferdinand
- Schütt, Marion
- Trollmann, Regina
- Kölbel, Heike
- Schara, Ulrike
- Kirschner, Janbernd
- Pechmann, Astrid
- Blaschek, Astrid
- Horber, Veronka
- Denecke, Jonas
- Universität
Time of origin
- 2023
Other Objects (12)
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Costs of illness of spinal muscular atrophy: a systematic review
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Novel modifiers for inherited neurodegenerative disorders : spinal muscular atrophy and ataxia
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Pattern of pareses in 5q-spinal muscular atrophy
Diagnosis and management of spinal muscular atrophy : : Part 2
Evaluation of a case management to support families with children diagnosed with spinal muscular atrophy - protocol of a controlled mixed-methods study
Defective Mitochondria Contribute to Impaired Translation in Spinal Muscular Atrophy
Cytoskeletal dysregulation in the motoneuron disease Spinal Muscular Atrophy (SMA)
Molecular mechanisms of cytoskeletal dysregulations in Spinal Muscular Atrophy (SMA)
Costs of illness of spinal muscular atrophy: a systematic review
Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy
J wave syndromes in patients with spinal and bulbar muscular atrophy
Novel modifiers for inherited neurodegenerative disorders : spinal muscular atrophy and ataxia
Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes
Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Pattern of pareses in 5q-spinal muscular atrophy
Diagnosis and management of spinal muscular atrophy : : Part 2
Evaluation of a case management to support families with children diagnosed with spinal muscular atrophy - protocol of a controlled mixed-methods study
Defective Mitochondria Contribute to Impaired Translation in Spinal Muscular Atrophy
Cytoskeletal dysregulation in the motoneuron disease Spinal Muscular Atrophy (SMA)
Molecular mechanisms of cytoskeletal dysregulations in Spinal Muscular Atrophy (SMA)
Costs of illness of spinal muscular atrophy: a systematic review
Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy
J wave syndromes in patients with spinal and bulbar muscular atrophy
Novel modifiers for inherited neurodegenerative disorders : spinal muscular atrophy and ataxia