| Literature DB >> 35221561 |
Ganapathy Subramaniam Krishnan1, Dhruva Sharma2, Neha Sharma3, Anitha Chandrashekhar1.
Abstract
Ichthyosis refers to a comparatively rare group of skin disorders which may present with associated cardiomyopathy. We report a case of an 11-year-old female child who presented with ichthyosis and associated dilated cardiomyopathy. Genetic testing revealed mutation in the RBCK1 gene. She was successfully managed with heart transplantation. The purpose of the case report is to embark on the association between the skin and heart, the role of desmosomes, and the cutaneous manifestations of life-threatening cardiac disease. Cutaneous manifestations should not be escaped, as some of which could be a marker for sudden cardiac death and appropriate corrective actions can potentially save life. © Indian Association of Cardiovascular-Thoracic Surgeons 2021.Entities:
Keywords: Cardiac transplantation; Desmosomes; Dilated cardiomyopathy; Ichthyosis
Year: 2022 PMID: 35221561 PMCID: PMC8857379 DOI: 10.1007/s12055-021-01262-6
Source DB: PubMed Journal: Indian J Thorac Cardiovasc Surg ISSN: 0970-9134