A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

• Main Authors: Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
• Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
• Format: Article
• Published: 2022
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/74905
• Institution: Mahidol University

Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy. The disorder vastly affects infants and young children. Severe neonatal LVNC is relatively rare. The prevalence of genetic defects underlying pediatric and adult-onset LVNC is about 17–40%. Mutations of MY...