Related Experiment Video
Updated: Jul 4, 2025
Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
Published on: April 21, 2014
A case report of isolated arrhythmogenic left ventricular cardiomyopathy: phenotypes, diagnosis, and treatment
Yang Lan1, Lai Wei2, Cuizhen Pan3
1Department of Cardiology, Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, 180 Fenglin Rd, Shanghai 200032, China.
Insights
Isolated arrhythmogenic left ventricular cardiomyopathy (IALVC) is a rare genetic heart condition. Early diagnosis via multimodal imaging and genetic analysis, alongside treatments like ICD implantation, improves patient outcomes.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Isolated arrhythmogenic left ventricular cardiomyopathy (IALVC) is a hereditary condition where heart muscle is replaced by fibrous and adipose tissue.
- This condition primarily affects the left ventricle, distinguishing it from other forms of arrhythmogenic cardiomyopathy.
Observation:
- A 55-year-old male presented with chest pain and palpitations, experiencing ventricular tachycardia and T-wave inversion.
- Diagnostic workup included coronary angiography, echocardiography revealing ventricular aneurysm, and cardiac MRI confirming IALVC.
- Whole exome sequencing identified a TTN1 c.17617 C>A mutation, confirming the genetic basis of the disease.
Findings:
- Multimodal imaging and histopathology confirmed IALVC with apical fibrofatty displacement.
- The TTN1 gene mutation was identified as the likely cause of the patient's condition.
- The patient's symptoms significantly improved following treatment.
Implications:
- This case underscores the importance of integrating imaging, genetic, and pathological data for accurate IALVC diagnosis.
- Effective management strategies include implantable cardioverter defibrillator (ICD) implantation, radiofrequency ablation, and surgical resection of ventricular aneurysms.
- Understanding the clinical presentation and treatment outcomes of IALVC contributes to improved patient care and disease management.
Background:
Isolated arrhythmogenic left ventricular cardiomyopathy (IALVC) is a hereditary cardiomyopathy that is characterized by the replacement of left ventricular (LV) cardiomyocytes with fibrous and adipose tissue.
Case Summary:
A 55-year-old male patient presented with recurrent chest pain and palpitations characterized by episodes of monomorphic ventricular tachycardia and T-wave inversion. Coronary angiography was conducted to rule out myocardial ischaemia as the cause of chest pain. Echocardiography results revealed ventricular aneurysm formation at the apex of the left ventricle. Structural alterations of the cardiac magnetic resonance were consistent with the diagnosis of arrhythmogenic left ventricular cardiomyopathy with LV alterations without right ventricular involvement. Pathological staining of the lesion area further confirmed the diagnosis of IALVC. The TTN1 c.17617 C>A mutation in arrhythmogenic cardiomyopathy was identified using whole exome sequencing. His symptoms improved by the treatments including implantable cardioverter defibrillator (ICD) implantation, radiofrequency ablation, and ventricular aneurysm resection.
Discussion:
The patient presented with IALVC with apical fibrofatty displacement and underwent surgical management, highlighting the importance of multimodal imaging, gene analysis, and histopathological findings for timely diagnosis, and emphasizing the benefits of life-saving therapy, including ICD implantation, radiofrequency ablation, and ventricular aneurysm resection. These findings contribute to a deeper understanding of the clinical presentation and outcome of IALVC.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
09:16Isolation and Characterization of Cardiac Mesenchymal Stromal Cells from Endomyocardial Bioptic Samples of Arrhythmogenic Cardiomyopathy Patients
Published on: February 28, 2018
