None listed
Conditions
Interventions
None listed
Sponsors
Korea University Anam Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Inclusion criteria 1. Conventional screening criteria: severe left ventricular hypertrophy or suspicious of HCM (Interventricular septal thickness >13mm in transthoracic echocardiography) 2. Unexplained left ventricular hypertrophy (left ventricular mass index = 115 g/m2 in men, = 95 g/m2 in women) With at least one of following criteria - Diastolic dysfunction Diastolic dysfunction is diagnosed by American Society of Echocardiography recommendation. ? At least 2 positive findings as followings: 1) Averaged E/e’ >14 2) Septal e’ <7cm/sec 3) Tricuspid regurgitant peak velocity >2.9m/sec 4) Left atrial volume index >34 ml/m2 ? Restrictive pattern of diastolic dysfunction [E/A ratio=2], which is suspected to infiltrative disease of cardiac muscle - Abnormal electrocardiography (ECG) findings with associated with Fabry disease, including short PR (<120ms), abnormal P-Q interval or QRS width, bradyarrhythmia or ventricular arrhythmia. 3. Family members of index patients
Exclusion criteria
Exclusion criteria: Exclusion criteria 1. Left ventricular hypertrophy which is caused by other mechanisms, including aortic stenosis, hypertension or diabetes. 2. Multiple myeloma 3. Congenital heart disease 4. Previous cardiac surgery
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The prevalence of Fabry disease in real clinical practice;The prevalence of cardiac manifestations of Fabry disease;Presence of the gene mutation and its prognostic role | — |
Secondary
| Measure | Time frame |
|---|---|
| Cardiovascular events, composites of all events and death;To evaluate the exact prevalence of subgroups of Fabry disease who are not suspicious by HCM (interventricular septal thickness >13mm) but have left ventricular hypertrophy by left ventricular mass index with restrictive physiology or with electrical abnormality. In other words, to provide the proportion of undiagnosed Fabry disease patients due to selection bias only using severe LVH or HCM in previous studies.;To provide the fine criteria for high risk group to measure GL-3 enzyme activities;In addition, it remains to be determined how the mutation-negative patients with definitively decreased GL-3 enzyme activities can be diagnosed with Fabry disease. | — |
Countries
Korea, Republic of
Contacts
Public ContactJong-Il Choi
Korea University Anam Hospital
Outcome results
None listed