Advanced heart imaging spots hidden disease risk in Gaucher early on
Technique called STE may be 'valuable tool' for detecting abnormalities
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Adults with Gaucher disease type 1 may develop subtle signs of heart dysfunction long before they experience symptoms or show abnormalities on standard heart tests, according to a small new study from Turkey.
The researchers found that an advanced heart imaging scan — an ultrasound technique called speckle-tracking echocardiography, or STE — could detect early changes in heart muscle function even when standard tests of the organ appeared largely normal.
Moreover, one STE-derived measure, called left ventricular global longitudinal strain (LV GLS), which reflects how well the heart’s main pumping chamber contracts with each beat, emerged as a strong predictor of worsening disease severity over time, the team reported.
Noting that “cardiac involvement may remain clinically silent for years” in Gaucher type 1, the researchers called the heart imaging scan a “robust and independent predictor of increasing disease severity.”
“STE may therefore represent a valuable tool for early detection of subclinical [heart] involvement and risk stratification in this rare disease population,” the team wrote.
The study, “Left Ventricular Global Longitudinal Strain as an Early Predictor of Disease Severity Progression in Gaucher Disease Type 1,” was published in the journal Echocardiography.
Standard testing not sensitive enough for use in Gaucher
A genetic disease, Gaucher results from a deficiency of glucocerebrosidase, an enzyme that helps break down fatty substances inside cells. When the enzyme is missing or dysfunctional, these substances accumulate in organs and tissues, particularly the liver, spleen, and bone marrow. This in turn leads to the disease’s hallmark symptoms, which are enlargement of the liver and spleen, blood abnormalities, and bone problems.
The disease is classified into three types based on age at symptom onset, disease progression, and the presence of neurological symptoms. Gaucher disease type 1, the most common form of the condition, does not affect the nervous system, unlike type 2 and type 3.
While heart complications are considered uncommon in Gaucher type 1, cases involving the heart have been reported. Researchers say early heart involvement may be underrecognized because standard heart tests, including conventional echocardiography, are not always sensitive enough to detect subtle abnormalities in heart muscle (myocardial) function during the early stages of disease.
STE, which tracks heart muscle deformation at each heartbeat, has emerged as a promising tool for detecting abnormalities in the heart’s left and right pumping chambers, known as the ventricles. According to researchers, there’s potential for the use of STE earlier than conventional heart tests.
To investigate whether this advanced heart imaging is, in fact, effective in detecting early changes, a team mostly from the Gazi University Faculty of Medicine in Ankara conducted a study involving 15 adults with Gaucher type 1 and 15 healthy volunteers of similar age and sex.
All participants underwent conventional echocardiography and STE. Patients were also evaluated using the Disease Severity Scoring System (DS3), which measures Gaucher severity based on factors such as organ enlargement, blood abnormalities, and bone involvement.
About 60% of the patients, who had a mean age of 29, were women. These individuals had been diagnosed with Gaucher at a mean age of 18 and had been receiving enzyme replacement therapy, a standard disease treatment, for a mean of 10 years. None reported symptoms of heart disease.
STE detected subtle abnormalities standard tests missed
Conventional echocardiography revealed no significant differences between the groups, the researchers noted. Measures of heart structure and standard indicators of left and right ventricular function were largely similar between the groups.
The picture changed, however, when researchers examined heart muscle motion using STE. Compared with healthy volunteers, people with Gaucher had significantly lower LV GLS values, suggesting abnormalities in left ventricular myocardial function. Patients also had lower right ventricular global longitudinal strain (RV GLS) and right ventricular free-wall longitudinal strain values, which measure how effectively the right side of the heart contracts during each heartbeat.
Together, these findings pointed to subtle myocardial abnormalities affecting both sides of the heart despite otherwise normal results on conventional cardiac tests, the researchers noted.
The team then examined which factors were linked to worsening disease severity over time. Among all the factors evaluated, LV GLS emerged as the only independent predictor of worsening disease severity. Specifically, poorer LV GLS values were tied to a greater likelihood of worsening DS3 scores over time.
By contrast, treatment duration, conventional measures of heart function, and right ventricular strain measurements on STE did not independently predict worsening disease severity.
“These findings indicate that subclinical left ventricular myocardial dysfunction, as assessed by LV GLS, is a stronger predictor of DS3 score worsening than conventional echocardiographic parameters or treatment duration in [Gaucher disease],” the researchers wrote.
According to the team, the findings suggest that STE may be able to identify early signs of heart involvement before they become apparent on conventional echocardiography. The results also “highlight the potential value of strain echocardiography” for identifying patients at higher risk of disease progression and for monitoring heart involvement over time, the researchers concluded.
