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Purpose We evaluated the prevalence of cardiovascular abnormalities and the efficacy and safety of enzyme replacement therapy (ERT) in patients with late onset Pompe disease. Methods Ninety patients were randomized 2:1 to ERT or placebo in a double-blind protocol. Electrocardiograms (ECG) and echocardiograms were obtained at baseline and scheduled intervals over the 78-week study period. Baseline cardiovascular abnormalities, and efficacy and safety of ERT were described. Three pediatric patients were excluded. Results Eighty-seven patients were included. Median age was 44 years; 51% were male. At baseline, a short PR interval was present in 10%, 7% had decreased left ventricular systolic function, and 5% had elevated left ventricular mass on echocardiogram (all in mild range). There was no change in cardiovascular status associated with ERT. No significant safety concerns related to ERT were identified. Conclusions Although some patients with late onset Pompe disease had abnormalities on baseline ECG or echocardiogram, those classically seen in infantile Pompe disease, such as significant ventricular hypertrophy, were not noted. Cardiovascular parameters were not impacted by ERT and there were no cardiovascular safety concerns. The cardiovascular abnormalities identified may be related to Pompe disease or other comorbid conditions.

Background While quantitative RV strain analysis may be useful in congenital and acquired heart disease populations with RV failure, a comprehensive, standardized approach is lacking. An 18 segment RV strain analysis obtained from 3 standardized RV apical echo images was used to determine the feasibility, normal values and reproducibility of the method in normal adults. Methods Forty healthy, prospectively-enrolled volunteers with no cardiac history and normal QRS duration received an echo optimized for strain analysis including 3 RV apical views. 2D speckle tracking longitudinal strain analysis was performed on EchoPAC software. Eleven retrospectively-identified subjects with RV disease were included as a pilot population. All had been imaged using the same protocol including the 3 RV apical views. Results All control subjects had normal anatomic morphology and function by echo. Feasibility of the RV strain analysis was good (adequate tracking in 696/720 (97%) of segments). RV global peak systolic strain was −23 ± 2%. Peak strain was highest in the RV free wall and lowest in the septum. Dyssynchrony indices demonstrated no dyssynchrony using LV criteria. Reproducibility of most strain measures was acceptable. This methodology identified important disease not seen in the 4-chamber apical view alone in the pilot population of 11 patients with RV disease. Strain pattern and values were different from the control population indicating differences do exist from normal. Conclusions The 18 segment RV strain analysis is feasible with strain measures falling into discrete ranges in this normal population. Those with RV disease illustrate the potential utility of this approach. These data indicate that this model can be utilized for more detailed studies evaluating abnormal RV populations where its full potential can be assessed.

TAPSE, GLPS, and right-to-left PDA shunting were associated with progression to death/ECMO. RV free wall strain was not associated with the outcome, suggesting that diminished global strain better reflects clinical outcomes in this group. These thresholds may assist in the decision-making to transfer high-risk infants to ECMO centres.

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