Introduction Filamins interconnect actin filaments and form a broad network in cardiac and skeletal muscle cells by anchoring membrane proteins to the cytoskeleton. Filamin C, encoded by the FLNC gene, is one of three filamin-related proteins and binds to several proteins in the Z-disc of the sarcomere. Mutations in FLNC were initially associated with skeletal myofibrillar myopathy but are now recognized as associated with dilated and arrhythmogenic cardiomyopathy phenotypes, with autosomal dominant inheritance and an estimated penetrance of 92–97%, and […]

Abstract Cardiomyopathies, myocardial diseases without other causative factors like hypertension or coronary artery disease, were once considered rare but have seen increased diagnoses due to improved imaging and clinical awareness. Recent categorizations based on predominant phenotypes, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, non-dilated left ventricular cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy highlight their complexity. Phenotype characterization is challenging due to overlapping features among different cardiomyopathies, making genetic testing indispensable, offering insights into etiology, risks, and guiding treatments. Advancements […]

Introduction Twenty years ago, the Human Genome Project made history by announcing the sequencing of 92% of the human genome through the development of modern genetic sequencing techniques. In 2022, the complete sequencing of human DNA was announced. This knowledge made it possible to better understand how genetics influences the functioning of the human body and, at the same time, facilitated the identification of genetic variants that can cause diseases. In the field of cardiology, genetic study assists the assessment […]

Abstract Precision Medicine is an innovative clinical approach that uses a wide range of data to assess patients, including genetic and molecular information. Thanks to technological advances and cost reductions, new technologies have been incorporated into clinical practice, such as next-generation sequencing methods. Recently, clinical guidelines have recommended the use of genetic tests in patients with cardiomyopathies, which can have a major impact on etiological diagnosis, prognosis, treatment, and family screening. Furthermore, biomarkers obtained by means of imaging tests, wearables, […]

Over the past years, the recognition of cardiac involvement due to deposition of amyloid substances has received greater emphasis. Cardiac amyloidosis (CA), as it is known, has been shown to be a more prevalent cause of heart failure with preserved ejection fraction than in previous decades, although diagnosis remains a constant challenge. With advances in pathophysiological knowledge of this disease, as well as relevant advances in diagnostic methods, particularly in the field of cardiovascular imaging, there has been a significant […]