Open AccessCardiopulmonary assessment of patients diagnosed with Gaucher’s disease type I
Author(s) -
Bjelobrk Marija,
Lakocevic Milan,
Damjanovic Svetozar,
Petakov Milan,
Petrovic Milan,
Bosnic Zoran,
Arena Ross,
Popovic Dejana
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1757
Subject(s) - medicine , ejection fraction , cardiology , ventilation (architecture) , vo2 max , oxygen pulse , respiratory minute volume , pulse pressure , heart rate , blood pressure , respiratory system , heart failure , mechanical engineering , engineering
Background Understanding the basis of the phenotypic variation in Gaucher's disease (GD) has proven to be challenging for efficient treatment. The current study examined cardiopulmonary characteristics of patients with GD type 1. Methods Twenty Caucasian subjects (8/20 female) with diagnosed GD type I (GD‐S) and 20 age‐ and sex‐matched healthy controls (C), were assessed (mean age GD‐S: 32.6 ± 13.1 vs. C: 36.2 ± 10.6, p > .05) before the initiation of treatment. Standard echocardiography at rest was used to assess left ventricular ejection fraction (LVEF) and pulmonary artery systolic pressure (PASP). Cardiopulmonary exercise testing (CPET) was performed on a recumbent ergometer using a ramp protocol. Results LVEF was similar in both groups (GD‐S: 65.1 ± 5.2% vs. C: 65.2 ± 5.2%, p > .05), as well as PAPS (24.1 ± 4.2 mmHg vs. C: 25.5 ± 1.3 mmHg, p > .05). GD‐S had lower weight ( p < .05) and worse CPET responses compared to C, including peak values of heart rate, oxygen consumption, carbondioxide production (VCO 2 ), end‐tidal pressure of CO 2 , and O 2 pulse, as well as HR reserve after 3 min of recovery and the minute ventilation/VCO 2 slope. Conclusions Patients with GD type I have an abnormal CPET response compared to healthy controls likely due to the complex pathophysiologic process in GD that impacts multiple systems integral to the physiologic response to exercise.