Echocardiograms may spot early heart disease in Fabry, study finds
Organ had worse function in men with condition than in patients without it
Noninvasive echocardiogram imaging may serve as an early marker for left ventricular hypertrophy (LVH), a disease of the left heart muscle, in adults with Fabry disease, a study suggests.
Imaging measurements could reliably distinguish Fabry patients among individuals with LVH, with Fabry men, in particular, showing markedly worse heart function than LVH patients without Fabry, the data showed.
“This is a clinically relevant distinction and has implications for the imaging assessment of patients with LVH,” researchers wrote in the study, “Differentiating Anderson-Fabry Disease from Other Causes of Left Ventricular Hypertrophy: Novel Insights from Left Atrial Strain Imaging,” which was published in the Journal of the American Society of Echocardiography.
Detecting Fabry among LVH patients can support early diagnosis, treatment
Heart problems in Fabry disease are most commonly present as LVH — a condition marked by thicker walls of the left ventricle, the heart’s main pumping chamber.
LVH can be caused by factors other than Fabry, including cardiovascular disease, high blood pressure, obesity, diabetes, and heart valve problems. Therefore, detecting Fabry among people with LVH can help support an early diagnosis and treatment regimen.
Left atrial strain, or LAS, is an echocardiogram measurement that has emerged as a valuable noninvasive biomarker of left ventricular function, enabling the detection of early heart disease.
The ability of LAS to detect Fabry disease among people with LVH remains unclear, so scientists from Australia, Japan, and South Korea collected 2D echocardiographic data from the Asia-Pacific Fabry Imaging Registry.
The team examined echocardiograms from 52 individuals with LVH and Fabry, alongside 52 sex-matched adults with mild to moderate LVH without Fabry. About half of each group were men (54%). Thirty-six healthy individuals, matched in age to the Fabry patients, served as the control group. Both Fabry patients and controls were significantly younger than patients with LVH who did not have Fabry.
“Although previous studies have highlighted differences in [left atrial] strain between [Fabry] (both with and without LVH) and healthy volunteers, ours is the first to extend this to a comparison to a group with mild-moderate LVH from non-[Fabry] causes,” the team noted.
Distinction in LASr values could serve as early marker for Fabry
From the echocardiograms, the team extracted LAS data comprising the three phases of left atrial function: reservoir (LASr), conduit (LAScd), and contractile (LASct).
LASr is the capacity of the left atrium, the heart’s upper chamber, to store oxygenated blood from the lungs while the left ventricle is pumping. LAScd refers to passive blood flow from the left atrium into the left ventricle. LASct is the left atrium contraction that pushes the final volume of blood into the left ventricle. Lower values (as a percentage) reflect worse heart function.
According to the analysis, mean LASr values from Fabry patients were lower than those in the non-Fabry LVH group (28.4% vs. 32.8%). Those values were significantly worse compared with controls (42.3%).
The central finding from our work is that [left atrial] strain parameters measured by 2D echocardiography are more impaired in male [Fabry] patients with LVH when compared to patients with non-[Fabry]-related LVH.
Men with Fabry appeared to drive these differences, with LASr values lower than those of non-Fabry men with LVH (26.3% vs. 34.2%). Both male groups also showed worse LASr values compared with male controls (46.3%). In comparison, women with LVH, with or without Fabry, generated similar LASr values.
“Male [Fabry] patients, despite being younger, displayed a greater reduction in LASr when compared to both the mild-moderate non-[Fabry] LVH and [healthy control] groups,” the team wrote. “This distinction in LASr values could potentially serve as an early marker for [Fabry].”
LAScd was similar between Fabry and non-Fabry LVH patients (19.3% vs. 20.1%), but still significantly worse than controls (29.5%). For LASct, Fabry patients had significantly lower values (9.6%) than both non-Fabry LVH patients (13.1%) and healthy controls (12.8%).
LAScd and LASct values trended toward abnormality in Fabry men, but the difference didn’t reach statistical significance, meaning the result could have arisen by chance. In women, both LASr and LAScd were similarly impaired in Fabry and non-Fabry LVH patients compared with female controls.
A statistical analysis revealed that LASr data from 20 participants in each group were highly consistent and reliable, with low variability.
“The central finding from our work is that [left atrial] strain parameters measured by 2D echocardiography are more impaired in male [Fabry] patients with LVH when compared to patients with non-[Fabry]-related LVH,” the researchers wrote. “LASr is a potential tool for suspecting [Fabry] diagnosis when assessing male patients with increased wall thickening and a clinical suspicion of [Fabry].”
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