Paediatric patient with <i>FLNC</i> and <i>CTNNA3</i> variants presenting with frequent premature ventricular contractions and systolic dysfunction: a case report
We present the case of an 8-year-old male with frequent premature ventricular contractions and mild left ventricular dysfunction, who was found to carry heterozygous variants in both <i>FLNC</i> and <i>CTNNA3</i>. Medical therapy resulted in improved systolic function and reduced arrhythmia burden. This rare combination suggests a potential genotype-phenotype correlation in paediatric arrhythmogenic cardiomyopathy.
Authors
- Hamide Saygılı
- Demet Tosun (ORCID: https://orcid.org/0000-0002-6111-1789)
- Deniz Akbulut (ORCID: https://orcid.org/0000-0001-8216-7610)
- Helen Bornaun
Institutions
- İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Cardiology in the Young
- Published
- 2026-03-27
- DOI
- https://doi.org/10.1017/s104795112611186x
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00