Obstructive hypertrophic cardiomyopathy (HCM) is a genetic disorder that affects the heart muscle, leading to thickening of the heart's walls, especially in the left ventricle. This thickening can obstruct blood flow from the left ventricle to the rest of the body, leading to symptoms such as chest pain, shortness of breath, and fainting. In some cases, HCM can also lead to serious complications such as heart failure and sudden cardiac death. HCM is caused by mutations in genes that control the growth and function of the heart muscle. While the exact number of genes that can cause HCM is not known, mutations in several genes, including MYH7, MYBPC3, and TNNT2, have been identified as the most common causes of the disorder. There are several high-risk markers associated with HCM that can indicate a greater likelihood of developing serious complications. These markers include:
A history of sudden cardiac death in a first-degree relative (such as a parent or sibling) with HCM.
A family history of HCM, especially in multiple family members.
A thickened left ventricular wall (greater than 15 mm) on echocardiography.
A systolic anterior motion of the mitral valve (SAM), which can occur when the thickened heart muscle pushes the mitral valve into the left ventricular outflow tract, obstructing blood flow.
Abnormal blood flow patterns in the left ventricular outflow tract, as seen on echocardiography.
A history of syncope (fainting) or near syncope, especially if it is related to physical exertion.
A history of severe chest pain, especially if it is related to physical exertion.
A history of heart failure or left ventricular dysfunction. It's important to note that not all individuals with HCM have these high-risk markers, and not all individuals with these markers will develop serious complications. However, individuals with these markers are at a higher risk for serious complications and should be closely monitored by a cardiologist. Treatment for HCM can vary depending on the individual case and can include medication to manage symptoms, such as beta-blockers or calcium channel blockers, as well as lifestyle changes such as avoiding strenuous physical activity and maintaining a healthy diet and exercise program. In some cases, surgery may be necessary, such as septal myectomy or alcohol septal ablation. In conclusion, Obstructive HCM is a genetic disorder that can lead to thickening of the heart's walls and obstruction of blood flow. There are several high-risk markers associated with HCM that can indicate a greater likelihood of developing serious complications, including a family history of HCM, thickening of the left ventricular wall, and abnormal blood flow patterns. Individuals with these markers should be closely monitored by a cardiologist and treated accordingly. Dr. A. Arrazaghi. MD,FRCPC