Background: Imagenomics is an emerging clinical framework that combines advanced imaging and genetic profiling to refine risk stratification and advance precision medicine in the management of ventricular arrhythmias. Case Summary: A 43-year-old woman presented with palpitations and presyncope. Ambulatory electrocardiogram revealed frequent premature ventricular contractions and nonsustained ventricular tachycardia, consistently initiated by a premature ventricular contraction with distinct morphology. Cardiac magnetic resonance scan identified a nonischemic scar in the basal inferolateral segment of the left ventricle, with a protected conduction corridor of heterogeneous tissue within the border zone. Electroanatomic mapping confirmed a critical isthmus that was anatomically colocalized with the cardiac magnetic resonance–defined corridor. Programmed ventricular stimulation induced sustained monomorphic ventricular tachycardia that degenerated into ventricular fibrillation, necessitating implantable cardioverter-defibrillator placement. Genetic analysis revealed a heterozygous, likely pathogenic TECRL variant, associated with catecholaminergic polymorphic ventricular tachycardia type 3. Discussion: This case highlights a composite arrhythmogenic mechanism shaped by myocardial scar substrate, protected conduction architecture, and inherited susceptibility.

Imagenomics and Ventricular Arrhythmia

Borrelli, Alessio;Sciarra, Luigi;Gallina, Sabina;
2025-01-01

Abstract

Background: Imagenomics is an emerging clinical framework that combines advanced imaging and genetic profiling to refine risk stratification and advance precision medicine in the management of ventricular arrhythmias. Case Summary: A 43-year-old woman presented with palpitations and presyncope. Ambulatory electrocardiogram revealed frequent premature ventricular contractions and nonsustained ventricular tachycardia, consistently initiated by a premature ventricular contraction with distinct morphology. Cardiac magnetic resonance scan identified a nonischemic scar in the basal inferolateral segment of the left ventricle, with a protected conduction corridor of heterogeneous tissue within the border zone. Electroanatomic mapping confirmed a critical isthmus that was anatomically colocalized with the cardiac magnetic resonance–defined corridor. Programmed ventricular stimulation induced sustained monomorphic ventricular tachycardia that degenerated into ventricular fibrillation, necessitating implantable cardioverter-defibrillator placement. Genetic analysis revealed a heterozygous, likely pathogenic TECRL variant, associated with catecholaminergic polymorphic ventricular tachycardia type 3. Discussion: This case highlights a composite arrhythmogenic mechanism shaped by myocardial scar substrate, protected conduction architecture, and inherited susceptibility.
File in questo prodotto:
File Dimensione Formato  
2025 JACC CR Martini.pdf

accesso aperto

Tipologia: Documento in Versione Editoriale
Licenza: Creative commons
Dimensione 10.05 MB
Formato Adobe PDF
10.05 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11697/270483
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? ND
social impact