Obstructive Hypertrophic Cardiomyopathy Report

The term Hypertrophic Cardiomyopathy refers to an alteration of the left ventricle (one of the four chambers into which the heart is divided), the function of which is to receive oxygenated blood to be pumped into the aorta. In this pathology, in most cases inherited, the ventricular walls thicken and stiffen, without dilating. Hypertrophy can affect any part of the ventricle but is more common in the interventricular septum. Losing their natural elasticity, consequently, the hypertrophic ventricles will no longer be able to adequately accommodate the oxygenated blood coming from the lungs: the result is heart failure due to a reduced flow of blood into the aorta (the main artery of the body).
A subtype of Hypertrophic Cardiomyopathy, the obstructive form, causes a serious impediment to a physiological blood emptying of the left ventricle, due to functional alterations of the mitral valve, located between the left atrium and the left ventricle. This alteration, called "Anterior Systolic Movement" (SAM) causes the flaps of the valve itself to touch the hypertrophic interventricular septum, obstructing the passage of blood to the aorta. Furthermore, a certain amount of blood will tend to return to the atrium (valve regurgitation), resulting in mitral and, therefore, heart failure.
Obstructive Hypertrophic Cardiomyopathy is the most common inherited heart disease and the mode of inheritance of familial forms is autosomal dominant. Numerous mutations responsible for its onset have been discovered in the genes coding for myocardial contractile proteins. The discovery of these mutations is an integral part of diagnostics: the identification of sick subjects carrying certain alterations, in fact, allows them to be searched even in asymptomatic family members or those liable to its future onset.