Work

Case Report: A novel variant of the TTN gene and two other rare variants in a Chinese patient with dilated cardiomyopathy

Year: 2025

Type: article

Abstract: Genetic factors are estimated to cause approximately 30%-50% of dilated cardiomyopathy (DCM) cases, with Titin (TTN) being the most commonly implicated gene, accounting for 20%-25% of genetic causes. Many DCM-causing TTN mutations are heterozygous truncating variants, including frameshift, non-sense, and essential splice site mutations. SCN5A mutations are associated with arrhythmias, while pathogenic variants in the low-density lipoprotein receptor (LDLR) gene are associated with familial hypercholesterolemia. Here, we report a case of DCM with a novel TTN variant, as well as two rare variants in the SCN5A and LDLR genes. It is rare for a patient to have three rare genetic variations and this may expand the genetic map of DCM and TTN, offering important insights for future studies on their genetic and disease relationships.

Source: Frontiers in Cardiovascular Medicine

DOI: 10.3389/fcvm.2025.1527544

Authors: Shan Han, Ying-Yi Zhang, Jie Geng

Institutions: Tianjin University, Tianjin Chest Hospital

Language: English

Topic: Cardiomyopathy and Myosin Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801