Taiwan Registry of Hypertrophic Cardiomyopathy (THIC) Research Synopsis

Summary

Hypertrophic cardiomyopathy (HCM) is hallmarked by the presence of left ventricular hypertrophy (LVH) and may present various symptoms including arrhythmia and heart failure. Mutations in the genes related to sarcomeric proteins and metabolic disorders are known causes of HCM. However, it remains required to further explore the prevalence of HCM in the context of Taiwanese' genetic background. Additionally, certain rare diseases that affect the heart, including Fabry disease, cardiac amyloidosis, may present LVH, which makes precise diagnosis among HCM and these diseases more challenging. In this TSOC multi-center registry, we aim to systematically evaluate the clinical, genetic, biochemical features,prevalence, and possible natural course of HCM and relevant rare diseases such as Fabry disease in Taiwan. In the meanwhile, we may also generate the specific "red-flag" signs of Fabry disease in Taiwan.

Eligibility

Inclusion Criteria:

1. Presence of left ventricular hypertrophy (LVH) on echo/CMRI:
2. maximal interventricular septal (IVST) and/or posterior wall thickness (PWT) ≥13 mm,
3. apical wall thickness ≥15 mm or a ratio of apical to basal LV wall thickness of ≥ 1.3 at end-diastole, OR
4. maximal LV wall thickness ≥ 15mm of ANY OTHER PART
5. Male and female adult age ≥ 20 year-old
6. Patients willing to comply with and sign the informed consent

Exclusion Criteria:

1. Patients refuse or unable to give informed consent
2. Patients unlikely to comply with the protocol or unable to understand the nature and possible consequences of the program
3. Co-arctation of the aorta, severe aortic stenosis, or severe LV pressure overload
4. Athletic heart
5. Non-compaction cardiomyopathy

Conditions2

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