Fabry Disease, Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Conditions
Brief summary
The purpose of this study was to understand the epidemiological status of Fabry in patients with hypertrophic cardiomyopathy or left ventricular hypertrophy through multi-center early identification of high-risk patients in cardiology according to high-risk profiles, supplemented by DBS (dried blood disc) screening tools, and to explore the screening and diagnosis methods of patients with Fabry disease in cardiology, so as to promote the early identification, diagnosis and treatment of Fabry in cardiology.
Interventions
None listed
Sponsors
Qilu Hospital of Shandong University
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Meet diagnostic criteria for hypertrophic cardiomyopathy (HCM) in adults (age ≥ 18 years):Imaging of one or more left ventricular segments reveals a maximum end-diastolic ventricular wall thickness of ≥15 mm or end-diastolic ventricular septal thickness or posterior left ventricular wall thickness of ≥13 mm on either cardiac imaging at rest.
Exclusion criteria
* 1\. Identification of hypertrophic cardiomyopathy caused by mutations in pathogenic genes; 2. Identify the cause of left ventricular hypertrophy (LVH); 3. Aortic valve or mitral valve lesions that can cause hemodynamic changes.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| diagnosis of Fabry disease | 1 year | Clinicians can identify high-risk patients in cardiology at an early stage according to the high-risk profile developed in this study, supplemented by the DBS (dried blood disc) screening tool, and diagnose and treat Fabry disease as early as possible through the established screening pathway for high-risk patients with Fabry disease in cardiology. |
Countries
China
Contacts
Primary ContactXinyu Zhang
Outcome results
None listed