# A case report of isolated arrhythmogenic left ventricular cardiomyopathy: phenotypes, diagnosis, and treatment

## TL;DR

A 55-year-old man with isolated arrhythmogenic left ventricular cardiomyopathy was diagnosed and treated using imaging, genetic testing, and surgery.

## Contribution

This case report highlights the importance of multimodal diagnosis and effective treatment strategies for IALVC.

## Key findings

- The patient had apical fibrofatty displacement confirmed by imaging and pathology.
- TTN1 c.17617 C>A mutation was identified as the genetic cause.
- Symptoms improved with ICD, ablation, and aneurysm resection.

## Abstract

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.

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.

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.