Navigating the Intersection of Complex Anatomy and Extreme Physiology in Adult Congenital Heart Disease

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

The human heart is made up of three layers of tissue that are surrounded by the pericardium, a membrane that protects and confines the heart. The outermost layer, closest to the pericardium, is the epicardium. The pericardial cavity separates the pericardium from the epicardium. Beneath the epicardium is the myocardium, the middle layer, and the endocardium, the innermost layer. There are four chambers of the heart: the right atrium, the right ventricle, the left atrium, and the left ventricle.

The heart is a hollow, muscular organ approximately the size of a fist, consisting of four chambers. It is enclosed in the pericardium, a fibrous sac with two layers: the visceral and parietal pericardium, separated by a fluid-filled space containing serous fluid to reduce friction.
The heart has three layers: the innermost endocardium, the muscular myocardium, and the outer epicardium, all working together for optimal cardiac function.
Chambers of the Heart
The heart is made up of four...

Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...

The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...