Cardiomyopathy – Top USMLE Diseases

Cardiomyopathy refers to a group of myocardial diseases associated with structural changes of the heart muscles (myocardium) and impaired systolic and/or diastolic function in the absence of other heart disorders (coronary artery disease, hypertension, valvular disease, and congenital heart disease). The list of causes is extensive, ranging from familial disorders to underlying diseases and infections. Patients often present with chest pain, dyspnea, palpitations, and/or syncope. Some patients may be completely asymptomatic, while others may present with sudden cardiac death as the first sign of an underlying condition. Diagnosis is made through the use of ECG and cardiac imaging such as echocardiography and cardiac MRI. Management involves medications typically used to treat heart failure, as well as implantable devices. In severe cases, heart transplantation may be necessary.

Hypertrophic cardiomyopathy (HCM) is the most commonly inherited cardiomyopathy, which is characterized by an asymmetric increase in thickness (hypertrophy) of the left ventricular wall, diastolic dysfunction, and often left ventricular outflow tract obstruction. Hypertrophic cardiomyopathy is caused by various gene mutations affecting the contractile components of the heart, known as sarcomeres. Inheritance of HCM is typically autosomal dominant, although sporadic mutations also occur. Patients may be asymptomatic, present with dyspnea and chest pain or suffer sudden cardiac death without prior symptoms. Diagnosis is made based on ECG, echocardiography, stress test, and cardiac MRI. Symptomatic HCM is typically treated with beta-blockers as the 1st-line therapy. Additional management depends on the presence of left ventricular outflow tract obstruction.

The cardiovascular exam is one of the most important parts of the physical. You will repeat this exam throughout your training and perform it on almost every patient in a hospital or a clinic. This part of the physical evaluates the heart and peripheral blood vessels (both arteries and veins). We use the stethoscope to auscultate, the fingers and palm to palpate and the eyes to observe.