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CASE REPORT article
Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1527544
This article is part of the Research Topic Case Reports in Cardiovascular Genetics and Systems Medicine: 2024 View all 12 articles
Case report: A novel Variant of the TTN gene and Two other rare Variants in a Chinese patient with Dilated Cardiomyopathy
Provisionally accepted- Department of Cardiology, Chest Hospital, Tianjin University, Tianjin Key Laboratory of Cardiovascular Emergency and Critical Care, Tianjin Municipal Science and Technology Bureau, Tianjin, China
Around 30% to 50% of total Dilated cardiomyopathy (DCM) is estimated to be caused by genetic factors. Titin (TTN) is the most common disease gene accounting for 20%-25% of the genetic causes. Many of the DCM causing TTN mutations are heterozygous truncating variants (TTNtv) that include frameshift, nonsense, and essential splice site mutations. SCN5A mutations are known to be associated with arrhythmias and the pathogenic variants in the low-density lipoprotein receptor (LDLR) are known to cause familial hypercholesterolemia. Here, we report a case of DCM with a novel TTN variant, as well as 2 other rare variants in the SCN5A gene and LDLR gene. It is rare for a patient to have three rare genetic variations and this finding may expand the genetic map of DCM and TTN and would be important for future studies on the genetic and disease relationships between DCM and TTN.
Keywords: TTN gene mutation, dilated cardiomyopathy, rare variants, left ventricular reverse remodeling, case report
Received: 13 Nov 2024; Accepted: 17 Mar 2025.
Copyright: © 2025 Han, Zhang and Geng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ying-Yi Zhang, Department of Cardiology, Chest Hospital, Tianjin University, Tianjin Key Laboratory of Cardiovascular Emergency and Critical Care, Tianjin Municipal Science and Technology Bureau, Tianjin, China
Jie Geng, Department of Cardiology, Chest Hospital, Tianjin University, Tianjin Key Laboratory of Cardiovascular Emergency and Critical Care, Tianjin Municipal Science and Technology Bureau, Tianjin, China
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