Hypertrophic Cardiomyopathy: A Cardiovascular Challenge Becoming a Contemporary Treatable Disease

Abstract

Hypertrophic cardiomyopathy is one of the most common genetic inherited diseases of myocardium, which is caused by mutation in genes encoding proteins for the cardiac sarcomere. It is the most frequent cause of sudden death in young people and trained athletes. All diagnostic methods, including heart catheterization, transthoracic and transesophageal echocardiography, magnetic resonance imaging, genetic counseling and tissue biopsy are required for risk and therapy stratification and should be individualized depending on phenotype and genotype. Current therapy has not been tested adequately. Beta-blockers and verapamil can cause hypotension which can make hypertrophic cardiomyopathy worse. Disopyramide has been inadequately studied, and mavacamten was only studied in small trials. More definitive trials are currently ongoing. Novel invasive and noninvasive diagnostics, medical therapies, interventional and surgical approaches tend to influence the natural history of the disease, favoring a better future for this patient population.

Norepinephrine and Dobutamine-Induced Dynamic Left Ventricular Outflow Tract Obstruction Caused by Systolic Anterior Motion

“…SAM was first observed in individuals with asymmetric hypertrophic cardiomyopathy (HCM) in the 1960s and was considered one of the classic symptoms of the disease. HCM is the leading cause of sudden cardiac death, and the implantation of an implantable cardioverter-defibrillator (ICD) is seen as appropriate when patients exhibit any of the following risk factors: a history of sudden death in immediate family members, a maximal LV wall thickness of ≥ 30 mm, or a recent unexplained syncopal event [ 3 , 12 ]. However, SAM and LVOTO are not only associated with HCM but also occur in many diseases such as elongated MV leaflets [ 13 ] and can even be found in individuals with structurally normal hearts [ 2 ].…”

“…However, SAM and LVOTO are not only associated with HCM but also occur in many diseases such as elongated MV leaflets [13] and can even be found in individuals with structurally normal hearts [2]. SAM and LVOTO can both develop independently under different clinical conditions, including LV hypertrophy (hypertrophy or sigmoid septum), reduced LV chamber size (due to dehydration, haemorrhage, or diuresis) and mitral valve defects (redundant, long anterior leaflets) and hypercontraction (stress, using inotropes, angiotensin-converting enzyme inhibitor (ACE-I), digitalis or effects of catecholamines) [3,4]. Acute MI with symptoms of SAM and dynamic LVOTO has also been documented recently [4][5][6].…”

“…Both phenomena are associated with increased mortality [ 2 ]. SAM has four grades: grade 0 (non-existing), grade 1 (deviation > 5 mm (M-mode), grade 2 (non-holosystolic contact to ventricular septum) and grade 3 (holosystolic contact to ventricular septum) [ 3 ]. SAM may also arise in post-myocardial infarction (MI) patients and patients undergoing mitral valve repair or with adverse risk factors such as hypovolemia or catecholamine overexposure [ 2 ].…”