AI Article Synopsis
- Arrhythmogenic right ventricular dysplasia (ARVD) primarily affects the right ventricle but can also involve both ventricles, characterized by the replacement of heart muscle with fibrofatty tissue.
- Many genetic cases of ARVD are linked to mutations in the plakophilin-2 (PKP-2) gene, which is crucial for cell adhesion.
- A case study highlights a male patient diagnosed with ARVD through genetic testing after experiencing heart failure and arrhythmias, eventually leading to a heart transplant, emphasizing the importance of early detection for better management and outcomes.
Article Abstract
Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disease that predominantly affects the right ventricle; however, biventricular involvement is increasingly being recognized. Fibrofatty tissue replacement is a central feature of ARVD. The majority of the identified genes, including protein plakophilin-2 (PKP-2), involved in cell-to-cell adhesion, can be seen in most genetic cases. Clinically, affected individuals present with palpitations, syncope, or sudden death due to ventricular arrhythmias, such as ventricular tachycardia (VT) or fibrillation, with symptomatic heart failure usually only in later stages. In this study, we present a male patient with ARVD who underwent a genetic test that revealed ARVD with PKP-2 mutation after multiple admissions for heart failure and arrhythmias. He ultimately underwent orthotopic heart transplantation (OHT). Early detection is important for further management, risk stratification, and reduced hospitalization in patients with ARVD.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9185999 | PMC |
| http://dx.doi.org/10.7759/cureus.24872 | DOI Listing |
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