Right ventricular function in late-onset Pompe disease.

Area of Science:

• Cardiology
• Genetics
• Metabolic Diseases

Background:

• Pompe disease (glycogen storage disease type II) is an inherited autosomal recessive disorder.
• Right ventricular (RV) function is a key predictor of clinical outcomes in heart failure patients.
• Assessing RV function is vital for managing Pompe disease, particularly its late-onset forms.

Purpose of the Study:

• To characterize the RV function in adult patients with late-onset Pompe disease.
• To compare RV function parameters between Pompe disease patients and a control group.
• To determine if RV systolic function is impaired in late-onset Pompe disease.

Main Methods:

• Retrospective analysis of clinical and Doppler-echocardiographic data.
• Inclusion of ten adult late-onset Pompe disease patients and seven controls.
• Utilized Doppler echocardiography, Doppler tissue imaging, and tricuspid annular plane systolic excursion (TAPSE) measurements.

Main Results:

• No significant differences were observed in TAPSE, peak systolic RV velocity (Sm), or peak early diastolic RV velocity (Ea) between Pompe disease patients and controls.
• Left ventricular ejection fraction (LVEF) and LV end-diastolic diameter were similar between the groups.
• RV systolic function was found to be preserved in the studied cohort of late-onset Pompe disease patients.

Conclusions:

• RV systolic function appears to be preserved in patients with late-onset Pompe disease.
• Doppler echocardiography and related techniques are valuable for assessing RV function in Pompe disease.
• Further research may explore long-term RV function changes and their clinical implications in Pompe disease.