Rare and Ultra-Rare Diseases as Causes of Cardiomyopathy

Abstract

Several definitions of rare disease have emphasized the low prevalence of genetic diseases that can affect cardiac tissues and cause high psychosocial suffering due to the challenging diagnostic process and the high costs of complementary tests and specific therapies. In addition, there is the need for referral centers with different medical specialists, as well as nurses, social workers, psychologists, physiotherapists, among other professionals. With the rapid advances in genetics and precision medicine, associated with the emergence of specific therapeutic molecules (orphan drugs), many rare diseases are no longer “hidden” in pages’ footnotes, and their diagnoses cannot be neglected. The first step is to understand their physiopathogenesis, clinical signs and symptoms, and complementary diagnosis tools including genotyping. This review aims to present objective and important information to contribute to the investigation of the cardiovascular involvement in some of the rare genetic diseases.