Hypertrophic Cardiomyopathy Disease Summary

Overview

Hypertrophic cardiomyopathy (HCM) is a genetically determined cardiac disorder characterized by hypertrophy, often of the left ventricle (LV), with non-dilated ventricular chambers and no other cardiac, systemic, or metabolic disease (eg aortic stenosis, thyroid disease, or hypertension) capable of producing the extent of hypertrophy manifested by the patient, as stated in the Introduction section.

Hypertrophic cardiomyopathy is the most common form of genetic cardiovascular disorder, occurring in one out of 500 individuals regardless of gender or race. A detailed discussion about the prevalence of hypertrophic cardiomyopathy is in the Epidemiology section.

Hypertrophic cardiomyopathy results from mutations in one of the cardiac sarcomere protein genes that encode the parts of the apparatus for contraction. Discussion in these cardiac sarcomere protein genes is in the Etiology section.

The Pathophysiology section states that the link between left ventricular hypertrophy (LVH) and the characteristic histopathologic features of the hypertrophic cardiomyopathy, such as myofibrillar disarray and expanded interstitial space due to fibrosis, leads to the development of diastolic dysfunction, which is commonly observed in patients with hypertrophic cardiomyopathy. 

Hypertrophic Cardiomyopathy_Disease Summary

History and Physical Examination

The Clinical Presentation section describes the clinical features that may be present in patients with hypertrophic cardiomyopathy.  

The History section discusses the different information needed in the assessment of patients with hypertrophic cardiomyopathy, while the Physical Examination section explains the importance of a thorough cardiac examination and evaluation of other extracardiac signs that may suggest phenotypic mimics.

Diagnosis

Discussion in genetic testing and cardiac biopsy in the diagnosis of hypertrophic cardiomyopathy is in the Laboratory Tests and Ancillaries section. 

The Imaging section explains the different modalities that help in the confirmation of hypertrophic cardiomyopathy, such as echocardiography, cardiac magnetic resonance imaging (MRI) or computed tomography (CT) scan, and coronary angiography.

Other investigations, such as 12-L electrocardiography (ECG), Holter monitor or exercise test, and cardiac catheterization, are also discussed in this section. Other conditions or phenotypic mimics that need to be ruled out in the diagnosis of hypertrophic cardiomyopathy are listed in the Differential Diagnosis section.

Management

General therapy principles and management of hypertrophic cardiomyopathy are in the Principles of Therapy section.

The Pharmacological Therapy section discusses in detail the different treatment options for hypertrophic cardiomyopathy, such as beta-blockers, calcium channel blockers, Disopyramide, and Mavacamten.

The Nonpharmacological section includes things to educate the family about the management of hypertrophic cardiomyopathy and discussions on lifestyle modification.

Invasive therapies and treatment options that should be considered in patients with hypertrophic cardiomyopathy are in the Surgery section.

The Monitoring section identifies indications for follow-up in patients with hypertrophic cardiomyopathy.

The Prognosis section explains the possible course and outcomes of patients with hypertrophic cardiomyopathy.

The Complications section discusses sudden cardiac death that may arise during the course of hypertrophic cardiomyopathy.