Abstract
BackgroundMucopolysaccharidosis (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 MethodsIn 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.ResultsNone 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.ConclusionsThe 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.
Highlights
Mucopolysaccharidoses (MPSs) are a group of rare inherited lysosomal storage disorders caused by deficiencies of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs)
It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date
Left-sided valve leaflet thickening occurred in 26 patients
Summary
Mucopolysaccharidoses (MPSs) are a group of rare inherited lysosomal storage disorders caused by deficiencies of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). These enzyme deficiencies lead to progressive systemic deposition and storage of GAGs, resulting in multi-organ system dysfunction [1]. Deficiency in the enzyme N-acetylgalactosamine6-sulfatase results in the lack of degradation and consequent storage of keratan sulfate and chondroitin 6-sulfate in various cell compartments (primarily lysosomes) of different organs (primarily cartilage and its extracellular matrix) and leads to incomplete enchondral ossification [3]. Ultimate patient height is usually limited to around 100–130 cm and far below the 3rd percentile for growth. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia
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