Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: An echocardiographic study

Monaldi Arch Chest Dis 2021 Aug 9. doi: 10.4081/monaldi.2021.1767.

PMID: 34461699

Domenico Galzerano, Seemi Saba, Abdullah Al Sergani

Highlights: A systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation.

Abstract

Background: Mucopolysaccharidoses are an uncommon inherited lysosomal storage disorder that account for less than 0.1% of all genetic diseases. Penetrance varies greatly, and clinically ranging from severe fetal-neonatal forms to milder disorders detected in adults. The majority of patients have had cardiac problems since pediatric age, however there are a few patients who have had attenuated disease detected in their adolescent or adult years. The current treatments for these illnesses include hematopoietic stem cell transplantation and enzyme replacement therapy.

Objective: Mucopolysaccharidoses patients are living longer than they have in the past thanks to these treatments. Despite the fact that enzyme replacement therapy has been shown to reduce left ventricular mass in individuals with cardiomyopathy, its efficacy in treating valve defects has yet to be proven. Furthermore, an increasing number of adolescent and adult patients diagnosed with MPS are being followed up in the adult echocardiographic laboratory, thanks to current therapy, improved understanding, and the introduction of new technologies. Indeed, there is a gap in the medical literature for a thorough descriptive study detailing the echocardiographic aspects of valve involvement and their progression in adolescent and adult patients, which was the goal of our study.

Results and Conclusions: Our findings revealed that all valves are affected, with the mitral valve having the highest prevalence when compared to pediatric age. The echocardiographic signs of MPS differ from those of other adolescent and adult valvular disorders, and understanding them can help you prevent a misdiagnosis. Our findings also imply that, in our age group, the progression of cardiac involvement slows after the start of therapy. More research on a wider population is needed to corroborate our findings.

Keywords: Mucopolysaccharidoses, lysosomal storage disease, echocardiography, cardiac involvement