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Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been...

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Autores principales: Kampmann, Christoph, Abu-Tair, Tariq, Gökce, Seyfullah, Lampe, Christina, Reinke, Jörg, Mengel, Eugen, Hennermann, Julia B., Wiethoff, Christiane M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017658/
https://www.ncbi.nlm.nih.gov/pubmed/27610627
http://dx.doi.org/10.1371/journal.pone.0162612
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author Kampmann, Christoph
Abu-Tair, Tariq
Gökce, Seyfullah
Lampe, Christina
Reinke, Jörg
Mengel, Eugen
Hennermann, Julia B.
Wiethoff, Christiane M.
author_facet Kampmann, Christoph
Abu-Tair, Tariq
Gökce, Seyfullah
Lampe, Christina
Reinke, Jörg
Mengel, Eugen
Hennermann, Julia B.
Wiethoff, Christiane M.
author_sort Kampmann, Christoph
collection PubMed
description BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia. MATERIAL AND METHODS: In this observational study, serial cardiac examinations were performed in 54 patients with MPS IVA who were followed at the Children’s Hospital of the Mainz Medical University (Mainz, Germany) between 1991 and 2014 (follow-up 1–24 years; median 5.8 years). Results were compared with data from a large central European cohort of more than 2000 healthy infants and children. RESULTS: None of the patients had arterial hypertension, but 4% had evidence of increased pulmonary artery pressure. Patients developed aortic root extension up to 6.9 standard deviations above normal. Left-sided valve leaflet thickening occurred in 26 patients (five with valve disease). Patients had lower left ventricular dimensions (z: –1.02±0.1), lower stroke volumes (z: –2.3±0.17), lower left ventricular mass (z: –1.5±0.21), but higher wall thickness (z: +0.8±0.16), and higher work index (z: +2.5±0.2) compared to healthy control subjects. Cardiac output was preserved by an increase in heart rate of 21%. Sixty % of patients showed impaired diastolic filling; heart rate (99.0±1.8 vs. 92.0±2.1 bpm), age (18.0±1.8 vs. 14.2±1 years), and cardiothoracic ratio (61.6±3.6% vs. 55±4.2%) of these patients were higher compared to those with normal filling. CONCLUSIONS: The results of this study suggest an age-progressive disproportion of the intra-thoracic organs of patients with MPS IVA, which is accompanied by aortic root extension and thickened left ventricles, with reduced stroke volumes, impaired diastolic filling patterns, and increased heart rates.
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spelling pubmed-50176582016-09-27 Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome) Kampmann, Christoph Abu-Tair, Tariq Gökce, Seyfullah Lampe, Christina Reinke, Jörg Mengel, Eugen Hennermann, Julia B. Wiethoff, Christiane M. PLoS One Research Article BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia. MATERIAL AND METHODS: In this observational study, serial cardiac examinations were performed in 54 patients with MPS IVA who were followed at the Children’s Hospital of the Mainz Medical University (Mainz, Germany) between 1991 and 2014 (follow-up 1–24 years; median 5.8 years). Results were compared with data from a large central European cohort of more than 2000 healthy infants and children. RESULTS: None of the patients had arterial hypertension, but 4% had evidence of increased pulmonary artery pressure. Patients developed aortic root extension up to 6.9 standard deviations above normal. Left-sided valve leaflet thickening occurred in 26 patients (five with valve disease). Patients had lower left ventricular dimensions (z: –1.02±0.1), lower stroke volumes (z: –2.3±0.17), lower left ventricular mass (z: –1.5±0.21), but higher wall thickness (z: +0.8±0.16), and higher work index (z: +2.5±0.2) compared to healthy control subjects. Cardiac output was preserved by an increase in heart rate of 21%. Sixty % of patients showed impaired diastolic filling; heart rate (99.0±1.8 vs. 92.0±2.1 bpm), age (18.0±1.8 vs. 14.2±1 years), and cardiothoracic ratio (61.6±3.6% vs. 55±4.2%) of these patients were higher compared to those with normal filling. CONCLUSIONS: The results of this study suggest an age-progressive disproportion of the intra-thoracic organs of patients with MPS IVA, which is accompanied by aortic root extension and thickened left ventricles, with reduced stroke volumes, impaired diastolic filling patterns, and increased heart rates. Public Library of Science 2016-09-09 /pmc/articles/PMC5017658/ /pubmed/27610627 http://dx.doi.org/10.1371/journal.pone.0162612 Text en © 2016 Kampmann et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Kampmann, Christoph
Abu-Tair, Tariq
Gökce, Seyfullah
Lampe, Christina
Reinke, Jörg
Mengel, Eugen
Hennermann, Julia B.
Wiethoff, Christiane M.
Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title_full Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title_fullStr Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title_full_unstemmed Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title_short Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)
title_sort heart and cardiovascular involvement in patients with mucopolysaccharidosis type iva (morquio-a syndrome)
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017658/
https://www.ncbi.nlm.nih.gov/pubmed/27610627
http://dx.doi.org/10.1371/journal.pone.0162612
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