Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy

Qilu Hospital of Shandong University627 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

627

Conditions

Hypertrophic Cardiomyopathy Left Ventricular Hypertrophy Fabry Disease

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

diagnosis of Fabry disease

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.

Time frame: 1 year