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January 23, 2025CJC OpenOpen Access

Utilization of Transthoracic Echocardiography and Biochemical Markers in Detecting Cardiomyopathy in Fabry Disease

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Key result

Fabry disease shows progressive LV GLS impairment and rising cardiac biomarkers.

  • n=75

Why the study?

Previous studies evaluating echocardiographic changes in Fabry disease were small and cross-sectional, leaving longitudinal trends linked to physiological and biochemical parameters unquantified.

What are the longitudinal changes in transthoracic echocardiography and biochemical markers in patients with Fabry disease?

Population

75 Fabry disease patients receiving longitudinal follow-up care

Design

Single-centre retrospective study

Authors

ARAshwin RoyQueen Elizabeth Hospital BirminghamSTS. ThompsonUniversity Hospitals Birmingham NHS Foundation TrustJHJames HodsonUniversity of Leeds

Discussion

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Implication

Supports serial GLS and biomarker monitoring in Fabry disease; hypothesis-generating for early intervention trials.

Study Design

Type

Cohort (n=75)

Multicenter

No

Structured PICO

What are the longitudinal changes in transthoracic echocardiography and biochemical markers in patients with Fabry disease?

P
Population
75 patients with Fabry disease receiving longitudinal follow-up care (53% female, 57% on enzyme replacement therapy)
I
Intervention
Longitudinal assessment using transthoracic echocardiography and biochemical markers
O
Outcome
Longitudinal trends in TTE parameters (including GLS, tissue Doppler, RV systolic function, atrial changes, LV mass) and biochemical parameters (hs-TnT, NT-proBNP, urine protein, ACR)surrogate

Longitudinal TTE and biochemical monitoring in Fabry disease reveals gradual, insidious progression of subclinical cardiomyopathy, highlighting the utility of multiparametric endpoints like GLS and biomarkers.

Cite This Study

Roy et al. (2025) conducted a cohort in Fabry disease (n=75). Transthoracic echocardiography and biochemical marker assessment was evaluated on Trends in transthoracic echocardiography parameters and biochemical markers. Longitudinal echocardiographic and biochemical assessment of 75 Fabry disease patients revealed progressive impairment in left ventricular global longitudinal strain and increased cardiac biomarkers.

synapsesocial.com/papers/6a0d6ebc88250cfcc2a4f0cehttps://doi.org/10.1016/j.cjco.2025.01.017

Topics

CardiomyopathyEchocardiographyCardiac amyloidosis
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Echocardiographic determination of left ventricular mass in man. Anatomic validation of the method.1977 · 4,502 citations
  2. 2Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography: An Update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging2016 · 2,510 citations
  3. 3A minimum dataset for a standard adult transthoracic echocardiogram: a guideline protocol from the British Society of Echocardiography2015 · 188 citations
  4. 4Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy2009 · 488 citations
  5. 5Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease2013 · 152 citations