Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Ribeiro, Erlane Marques; Brusius-Facchin, Ana Carolina; Leistner-Segal, Sandra; Silva, Carlos Antônio Bruno da; Schwartz, Ida Vanessa Döederlein

doi:10.1016/j.ymgmr.2014.09.003

Cited by 9 publications

(2 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In some case reports, a presenting manifestation was the key to the suspicion of MPS [12][13][14]. In those cases, MPS-related signs and symptoms were already present (see Table 1), although the diagnosis was not considered before.…”

Section: Clinical Suspicion and High-risk Groupsmentioning

confidence: 99%

Diagnosis of Mucopolysaccharidoses

et al. 2020

Self Cite

View full text Add to dashboard Cite

The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as leukocytes) providing a final diagnosis, while others (such as dried blood spots) still being considered as screening methods. The identification of variants in the specific genes that encode each MPS-related enzyme is helpful for diagnosis confirmation (when needed), carrier detection, genetic counseling, prenatal diagnosis (preferably in combination with enzyme assays) and phenotype prediction. Although the usual diagnostic flow in high-risk patients starts with the measurement of urinary GAGs, it continues with specific enzyme assays and is completed with mutation identification; there is a growing trend to have genotype-based investigations performed at the beginning of the investigation. In such cases, confirmation of pathogenicity of the variants identified should be confirmed by measurement of enzyme activity and/or identification and/or quantification of GAG species. As there is a growing number of countries performing newborn screening for MPS diseases, the investigation of a low enzyme activity by the measurement of GAG species concentration and identification of gene mutations in the same DBS sample is recommended before the suspicion of MPS is taken to the family. With specific therapies already available for most MPS patients, and with clinical trials in progress for many conditions, the specific diagnosis of MPS as early as possible is becoming increasingly necessary. In this review, we describe traditional and the most up to date diagnostic methods for mucopolysaccharidoses.

show abstract

Section: Clinical Suspicion and High-risk Groupsmentioning

confidence: 99%

Diagnosis of Mucopolysaccharidoses

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

“… Diffuse and general thickening of MV and subvalvular structures, restrictive motion of leaflets may suggest MPS. Ribeiro (2014) [ 102 ] III-A 6 F Anasarca and pneumonia Severe MR; rupture of chordae; LV dilation Biological prosthesis ns Mild AR and normalised LV function; Died at 13 from aspiration pneumonia - Marwick (1992) [ 103 ] VI 25 F Progressive exertional dyspnoea MV rigidity, with commissural fusion; MS: 0.83 cm 2 , ΔP 18 mmHg 2 M Starr–Edwards 6120 MV: thickened, nodular, and calcified Moderate AS at 3 yr F/U; Improved functioning Valve involvement similar to rheumatic fever with nodular thickening along free margin and shortening of chordae. Cardiac involvement should be considered in progressive dyspnoea.…”

Section: Table A1mentioning

confidence: 99%

Surgical Management of Valvular Heart Disease in Mucopolysaccharidoses: A Review of Literature

2022

View full text Add to dashboard Cite

Mucopolysaccharidoses are extremely rare diseases that are frequently presenting with structural heart problems of the aortic and mitral valve in combination with myocardial dysfunction. In a substantial proportion, this leads to heart failure and is a leading cause of death in these patients. As this glycosaminoglycan degradation defect is associated with other conditions strongly influencing the perioperative risk and choice of surgical technique, multidisciplinary planning is crucial to improve short- and long-term outcomes. The extensive variance in clinical presentation between different impaired enzymes, and further within subgroups, calls for personalised treatment plans. Enzyme replacement therapies and bone marrow transplantation carry great potential as they may significantly abrogate the progress of the disease and as such reduce the clinical burden and improve life expectancy. Nevertheless, structural heart interventions may be required. We reviewed the existing literature of the less than 50 published cases regarding surgical management, technique, and choice of prostheses. Although improvement in therapy has shown promising results in protecting valvar tissue when initiated in infancy, concerns regarding stability of this effect and durability of biological prostheses remain.

show abstract