Journal of Clinical & Experimental Pathology
Open Access

Cardiomyopathy is a set of disorders that affect the heart muscle (myocardium) and affect cardiac function. It can be identified by anatomical and functional degradation of the heart, which leads to heart failure, arrhythmias, and possibly sudden cardiac stroke. Cardiomyopathy can occur at any age, but it is particularly difficult because it can progress without symptoms at first and have serious implications if left untreated. The syndrome is of great interest in both clinical and experimental pathology due to its complicated etiologies, variable presentations, and the involvement of molecular and cellular systems which cause the disease. Cardiomyopathy is essentially categorized into five primary categories, each with specific pathological characteristics, causes, and clinical consequences.

Dilated Cardiomyopathy (DCM)

The most common form of cardiomyopathy is DCM, which can be identified by an expanded and weakening left ventricle that is unable to properly pump blood. This results in a lower ejection fraction and eventual heart failure. Genetic mutations, viral infections, autoimmune illnesses, and toxic exposure (for example, alcohol or chemotherapy) are all possible causes.

Hypertrophic Cardiomyopathy (HCM)

In this situation, the heart muscle thickens abnormally, especially in the left ventricle. The thickening heart muscle limits the chamber's size and obstructs blood flow, resulting in symptoms like shortness of breath and chest pain. HCM is frequently hereditary and caused by mutations in sarcomeric proteins like myosin.

Restrictive Cardiomyopathy (RCM)

RCM is characterized by cardiac muscle stiffening, which inhibits the heart's ability to expand and fill with blood. Impaired pulmonary circulation causes heart failure with maintained ejection fraction. It may be idiopathic or due to systemic illnesses such as amyloidosis, sarcoidosis, or hemochromatosis.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

This kind mainly affects the right ventricle, where fatty or fibrous tissue replaces normal myocardium, resulting in arrhythmias and premature death. ARVC is frequently inherited and associated to mutations in genes that code for desmosomal proteins, which provide structural integrity to cardiomyocytes.

Unclassified cardiomyopathies

This category covers uncommon variants such as Left Ventricular Non-Compaction Cardiomyopathy (LVNC) and stress-induced (Takotsubo) cardiomyopathy. LVNC is distinguished by trabeculations in the left ventricular myocardium, whereas Takotsubo cardiomyopathy is frequently the result of extreme emotional or physical stress.

Depending on the kind, cardiomyopathy has a number of pathophysiologic mechanisms. Genetic alterations provide an important influence, especially in hypertrophic, dilated, and arrhythmogenic cases. These mutations frequently affect genes that encode structural proteins found in the heart muscle (such as sarcomeric or desmosomal proteins), resulting in mechanical dysfunction, cellular signaling changes, and decreased elasticity. Impaired systolic function in dilated cardiomyopathy is commonly caused by cardiac fibrosis, inflammatory processes, and aberrant calcium handling in cardiomyocytes. Hypertrophic cardiomyopathy, on the other hand, is caused by hypercontractility and myocardial fiber disarray, which interferes with electrical communication and results in arrhythmias. Restrictive cardiomyopathy is often caused by the influx of aberrant substances such as amyloid fibrils or iron, which stiffens the myocardium and hinders its capacity to relax. Similarly, in arrhythmogenic cardiomyopathy, cardiomyocyte death and subsequent replacement with fibrofatty tissue block normal electrical transmission and contractile function.

Patients with cardiomyopathy may be asymptomatic in the early stages, but as the disease advances, symptoms such as heart failure, arrhythmias, and thromboembolic events develop. Echocardiography is the recognized standard for evaluating heart shape and function, including detecting ventricular dilatation, wall thickness, and aberrant motions. Cardiac MRI can reveal extra information on tissue properties, fibrosis, and scarring. Electrocardiogram (ECG) Identifies electrical problems such as arrhythmias and conduction blockages. Genetic screening for hereditary cardiomyopathies can help detect particular mutations and guide treatment and family counseling. Blood tests, such as B-type Natriuretic Peptide (BNP) and troponin levels can help determine the severity of heart failure or myocardial injury. In some situations, a biopsy of heart tissue may be necessary to diagnose specific infiltrative illnesses (such as amyloidosis) or myocarditis. Cardiomyopathy is a wide classification of cardiac muscle illnesses that have a major influence on patients' quality of life and survival. The transition from asymptomatic to severe heart failure or sudden cardiac death needs early identification and care. The study of cardiomyopathy in clinical and experimental pathology is critical for improving our understanding of cardiac disorders. Pathology helps to develop new diagnostics, therapies, and preventive strategies for patients by analyzing histopathology, molecular genetics, biomarker identification, and experimental models.