Cardiology Conference-CVC 2026

Amyloidosis and rare cardiomyopathies represent a heterogeneous group of cardiac disorders, often stemming from abnormal protein accumulation or underlying genetic mutations that compromise myocardial structure and function. In cardiac amyloidosis, deposition of transthyretin (ATTR) or light-chain (AL) amyloid proteins within the myocardium produces ventricular stiffening, impaired diastolic filling, and progressive heart failure. Other uncommon cardiomyopathies—such as hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy—are frequently genetic in origin, though certain cases arise within the context of metabolic disturbances.

Prompt recognition of these diseases is essential, as they may progress rapidly, precipitating heart failure, complex arrhythmias, or even sudden cardiac death. Diagnostic evaluation typically involves echocardiography, cardiac magnetic resonance imaging, nuclear scintigraphy, genetic testing, and, in select cases, endomyocardial biopsy.

Management strategies are tailored to the underlying etiology and the extent of cardiac involvement. Amyloidosis therapies may include disease-modifying agents, chemotherapy for AL amyloidosis, and emerging transthyretin stabilizers for ATTR, in conjunction with conventional heart failure regimens. For other rare cardiomyopathies, management may consist of pharmacologic treatment, lifestyle interventions, deployment of implantable devices (such as ICDs or pacemakers), and, in severe cases, consideration of cardiac transplantation.

Optimal patient outcomes are achieved through multidisciplinary care, engaging cardiologists, hematologists, geneticists, and cardiac surgeons. By integrating early diagnostic strategies, targeted therapies, and vigilant longitudinal monitoring, clinicians can enhance survival, preserve cardiac function, and improve quality of life in patients with amyloidosis and rare cardiomyopathies.