Vnitr Lek 2024, 70(6):376-383 | DOI: 10.36290/vnl.2024.075

New approaches in the diagnosis of hypertrophic cardiomyopathy

Miloš Kubánek

Klinika kardiologie, Institut klinické a experimentální medicíny, Praha

Hypertrophic cardiomyopathy (HCM) represents a heterogeneous group of diseases. The most common form of HCM is the phenotype of typical sarcomeric form with a hypercontractile left ventricle, impaired diastolic function and variable occurrence of obstruction in the left ventricle. Less frequently is this morphology related to infiltrative or storage diseases of myocardium like cardiac amyloidosis or inborn metabolic diseases (Anderson-Fabry´s disease, glycogenoses, etc). They represent phenocopies of HCM. We aim to describe the diagnostic criteria of HCM and guidelines for detection of obstruction in the left ventricle. In addition, we describe the differential diagnosis of HCM phenocopies, which can be facilitated by identification of clinical warning signs (red-flags). Additional methods for detection of HCM phenocopies represent standardized laboratory screening, complex cardiac magnetic resonance imaging and molecular-genetic genetic testing performed at baseline assessment. The aim of the diagnostic process is thus confirmation of the diagnosis of HCM, elucidation of HCM aetiology and identification of the presence or absence of obstructive pathophysiology in individual HCM cases. This should enable an individualized management of the disease. Finally, familial screening of HCM is discussed.

Keywords: hypertrophic cardiomyopathy, genetic testing, imaging methods.

Accepted: September 19, 2024; Published: October 3, 2024  Show citation