Related Experiment Video
Updated: Jun 3, 2025
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy
Kolja Lau1,2, Victoria Sokalski1,2, Lora Lorenz1,2
1Department of Internal Medicine I, Universitätsklinikum Würzburg, Würzburg, BY, Germany.
Insights
Electronic health record (EHR) screening effectively identified undiagnosed Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM). Family screening then uncovered additional FD cases, enabling timely treatment and follow-up for at-risk individuals.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Hypertrophic cardiomyopathy (HCM) can be caused by genetic conditions like Fabry disease (FD), a lysosomal storage disorder.
- FD prevalence in high-risk HCM populations is significant (0.3%-11.8%), yet diagnosis is often delayed due to rarity and varied symptoms.
- Early FD diagnosis is critical for initiating available treatments, particularly for heart-specific variants that may lack typical FD signs.
Purpose of the Study:
- To identify patients with undiagnosed Fabry disease (FD) within a hypertrophic cardiomyopathy (HCM) cohort.
- To assess the efficacy of using electronic health records (EHR) for detecting FD in patients with unexplained left ventricular hypertrophy (LVH)/HCM.
- To evaluate the potential for broader application of this screening method in high-risk populations.
Main Methods:
- A retrospective search of EHR identified 2824 patients with LVH or HCM between 2000-2020.
- Patients were excluded based on age, other cardiomyopathies, significant valvular disease, malignancy, or prior FD testing.
- Eligible patients received invitations for FD genetic testing.
Main Results:
- Out of 198 eligible patients, 55 underwent genetic testing, with a 48% response rate.
- One patient (1.8%) was diagnosed with FD due to the p.N215S variant.
- Subsequent family screening identified six additional FD cases, leading to four initiating FD-specific therapies.
Conclusions:
- EHR-based genetic testing is effective for identifying FD in patients with unexplained LVH/HCM.
- Family screening is crucial for detecting at-risk relatives and initiating timely management.
- This approach demonstrates potential for uncovering treatable genetic conditions in high-risk cohorts, with future efforts focusing on automating EHR searches.
Background And Aims:
Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.8%. Early diagnosis of FD is crucial due to available treatments, but its rarity and diverse symptoms complicate identification. Heart-specific FD variants often lead to late diagnoses due to the absence of typical FD symptoms. This prospective study (NCT04943991) was conducted to identify patients with undiagnosed FD using electronic health records (EHR) at a German tertiary-care hospital.
Methods:
Over 20 years (2000-2020), 2824 patients with 'left ventricular hypertrophy (LVH)' or 'hypertrophic cardiomyopathy (HCM)' were identified by full-text search. Exclusion criteria were age over 85, other diagnosed cardiomyopathies, significant valvular heart disease, death, active malignancy and prior FD testing. The remaining patients received an invitation for FD genetic testing.
Results:
Of the 2824 identified patients, 2626 (93%) fulfilled the exclusion criteria. Among the 198 included patients, 96 responded, and 55 underwent genetic testing, yielding a response rate of 48% and a testing rate of 28%. In one patient (1.8% of tested), FD was diagnosed with the p.N215S variant. Subsequent family screening revealed six additional FD cases, with four initiating FD-specific therapies. Comprehensive clinical evaluations were conducted in five of the seven identified patients.
Conclusions:
Genetic testing of patients with unexplained LVH/HCM using EHR is effective for identifying FD. Subsequent family screening further identified at-risk individuals, promoting regular follow-ups and if needed FD-specific therapies. This approach highlights the potential for broader application in high-risk populations to uncover treatable genetic conditions. The next phase should focus on automating the executed search process.
Trial Registration Number:
NCT04943991.
More Related Videos
09:05Transthoracic Speckle Tracking Echocardiography for the Quantitative Assessment of Left Ventricular Myocardial Deformation
Published on: October 20, 2016
10:33Assessment of Right Ventricular Structure and Function in Mouse Model of Pulmonary Artery Constriction by Transthoracic Echocardiography
Published on: February 3, 2014
Related Concept Videos
01:25Ultrasound II: Endoscopic Ultrasound and FibroScan
Endoscopic Ultrasound (EUS):
01:20Imaging Studies for Cardiovascular System II:Types of Echocardiography
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for...
01:17Imaging Studies for Cardiovascular System I:Echocardiography
Indications: Echocardiography is utilized to diagnose heart failure, valve disorders, and myocardial infarction. It also assesses cardiac structures' size, shape, and motion,...