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

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.