Genetic Factors Involved in Cardiomyopathies and in Cancer

• Main Authors: María Sabater-Molina, Marina Navarro-Peñalver, Carmen Muñoz-Esparza, Ángel Esteban-Gil, Juan Jose Santos-Mateo, Juan R. Gimeno
• Format: Article
• Language: English
• Published: MDPI AG 2020-06-01
• Series: Journal of Clinical Medicine
• Subjects: cardiomyopathy; cardiotoxicity; arrithmogenic cardiomyopathy; dilated cardiomayopathy; cancer; genetic
• Online Access: https://www.mdpi.com/2077-0383/9/6/1702

Cancer therapy-induced cardiomyopathy (CCM) manifests as left ventricular (LV) dysfunction and heart failure (HF). It is associated withparticular pharmacological agents and it is typically dose dependent, but significant individual variability has been observed. History of prior cardiac disease, abuse of toxics, cardiac overload conditions, age, and genetic predisposing factors modulate the degree of the cardiac reserve and the response to the injury. Genetic/familial cardiomyopathies (CMY) are increasingly recognized in general populations with an estimated prevalence of 1:250. Association between cardiac and oncologic diseases regarding genetics involves not only the toxicity process, but pathogenicity. Genetic variants in germinal cells that cause CMY (LMNA, RAS/MAPK) can increase susceptibility for certain types of cancer. The study of mutations found in cancer cells (somatic) has revealed the implication of genes commonly associated with the development of CMY. In particular, desmosomal mutations have been related to increased undifferentiation and invasiveness of cancer. In this article, the authors review the knowledge on the relevance of environmental and genetic background in CCM and give insights into the shared genetic role in the pathogenicity of the cancer process and development of CMY.