Study finds milder heart issues in late-onset Pompe disease
Review study finds symptoms less specific than in disease's infantile-onset form
Written by |
Heart problems in late-onset Pompe disease appear milder and less specific than in the disease’s infantile-onset form, a review study found.
While heart scans can detect these changes, further research is needed to fully understand them, according to the researchers, who reviewed data from 11 previous studies. “Knowledge of the disease may increase substantially through the application of new imaging and molecular techniques,” they wrote.
The study, “Cardiac magnetic resonance in Pompe disease: a systematic literature review,” was published in La Radiologia Medica.
Pompe disease is caused by the lack of acid alpha-glucosidase (GAA), an enzyme that helps break down glycogen, a stored form of sugar. Without this enzyme, glycogen builds up to toxic levels in cells, especially in muscle cells, leading to Pompe disease symptoms.
In infantile-onset Pompe disease, symptoms usually appear within the first few months of life, whereas in late-onset Pompe disease, they begin after age 1 and continue into adulthood. Heart problems, such as an enlarged heart, are common. However, it remains unclear how often and in what ways the heart is affected in the different types of Pompe disease.
Heart imaging reveals changes
The researchers reviewed records of cardiovascular magnetic resonance (CMR), a type of heart imaging that uses magnetic fields to create detailed pictures of the heart’s structure, from 11 studies. CMR can detect changes that may not be visible with other tests, helping doctors better understand how Pompe disease affects the heart.
Seven studies focused on infantile-onset Pompe disease and four on the late-onset form. Most studies had low evidence levels, meaning their data should be interpreted cautiously. The most common specialized technique used during CMR scans, reported in six studies, was late gadolinium enhancement, which uses a contrast agent to highlight damaged or scarred tissue.
Some studies reported heart muscle thickening (hypertrophy), especially in infantile-onset Pompe disease. For example, in a few cases, both sides of the heart and the wall between them were enlarged. In one adult patient, this thickening caused obstruction of blood flow from the heart.
Some patients, especially those with late-onset Pompe disease, had normal heart size and function. Small areas of abnormal tissue were also detected, sometimes linked to other conditions such as high blood pressure. Enzyme replacement therapy, which provides the enzyme missing in Pompe disease, showed that the heart structure either improved or remained unchanged over time. In one child with infantile-onset disease who received gene therapy, a study reported a reduction in certain heart markers linked to abnormal cardiac function.
Overall, signs of heart problems were much more common and severe in infantile-onset Pompe disease than in late-onset Pompe disease. For example, heart muscle thickening was observed in almost all patients with infantile-onset Pompe disease, but was rarely seen in those with late-onset Pompe.
However, the researchers noted, the available studies were small and varied in quality. Some lacked clear methods or detailed reporting, increasing the risk of bias and potentially making the findings less reliable. “Precisely for this reason, our intent was not to provide generalized conclusions but to map existing evidence as a foundation for future research rather than clinical recommendations,” the researchers wrote.
