AIMS: Myocardial scar detected by cardiovascular magnetic resonance has been associated with sudden cardiac death in dilated cardiomyopathy (DCM). Certain genetic causes of DCM may cause a malignant arrhythmogenic phenotype. The concepts of arrhythmogenic left ventricular (LV) cardiomyopathy (ALVC) and arrhythmogenic DCM are currently ill-defined. We hypothesized that a distinctive imaging phenotype defines ALVC. METHODS AND RESULTS: Eighty-nine patients with DCM-associated mutations [desmoplakin (DSP) n = 25, filamin C (FLNC) n = 7, titin n = 30, lamin A/C n = 12, bcl2-associated athanogene 3 n = 3, RNA binding motif protein 20 n = 3, cardiac sodium channel NAv1.5 n = 2, and sarcomeric genes n = 7] were comprehensively phenotyped. Clustering analysis resulted in two groups: 'DSP/FLNC genotypes' and 'non-DSP/FLNC'. There were no significant differences in age, sex, symptoms, baseline electrocardiography, arrhythmia burden, or ventricular volumes between the two groups. Subepicardial LV late gadolinium enhancement with ring-like pattern (at least three contiguous segments in the same short-axis slice) was observed in 78.1% of DSP/FLNC genotypes but was absent in the other DCM genotypes (P < 0.001). Left ventricular ejection fraction (LVEF) and global longitudinal strain were lower in other DCM genotypes (P = 0.053 and P = 0.015, respectively), but LV regional wall motion abnormalities were more common in DSP/FLNC genotypes (P < 0.001). DSP/FLNC patients with non-sustained ventricular tachycardia (NSVT) had more LV scar (P = 0.010), whereas other DCM genotypes patients with NSVT had lower LVEF (P = 0.001) than patients without NSVT. CONCLUSION: DSP/FLNC genotypes cause more regionality in LV impairment. The most defining characteristic is a subepicardial ring-like scar pattern in DSP/FLNC, which should be considered in future diagnostic criteria for ALVC. Published on behalf of the European Society of Cardiology. All rights reserved.
AIMS: Myocardial scar detected by cardiovascular magnetic resonance has been associated with sudden cardiac death in dilated cardiomyopathy (DCM). Certain genetic causes of DCM may cause a malignant arrhythmogenic phenotype. The concepts of arrhythmogenic left ventricular (LV) cardiomyopathy (ALVC) and arrhythmogenic DCM are currently ill-defined. We hypothesized that a distinctive imaging phenotype defines ALVC. METHODS AND RESULTS: Eighty-nine patients with DCM-associated mutations [desmoplakin (DSP) n = 25, filamin C (FLNC) n = 7, titin n = 30, lamin A/C n = 12, bcl2-associated athanogene 3 n = 3, RNA binding motif protein 20 n = 3, cardiac sodium channel NAv1.5 n = 2, and sarcomeric genes n = 7] were comprehensively phenotyped. Clustering analysis resulted in two groups: 'DSP/FLNC genotypes' and 'non-DSP/FLNC'. There were no significant differences in age, sex, symptoms, baseline electrocardiography, arrhythmia burden, or ventricular volumes between the two groups. Subepicardial LV late gadolinium enhancement with ring-like pattern (at least three contiguous segments in the same short-axis slice) was observed in 78.1% of DSP/FLNC genotypes but was absent in the other DCM genotypes (P < 0.001). Left ventricular ejection fraction (LVEF) and global longitudinal strain were lower in other DCM genotypes (P = 0.053 and P = 0.015, respectively), but LV regional wall motion abnormalities were more common in DSP/FLNC genotypes (P < 0.001). DSP/FLNC patients with non-sustained ventricular tachycardia (NSVT) had more LV scar (P = 0.010), whereas other DCM genotypes patients with NSVT had lower LVEF (P = 0.001) than patients without NSVT. CONCLUSION: DSP/FLNC genotypes cause more regionality in LV impairment. The most defining characteristic is a subepicardial ring-like scar pattern in DSP/FLNC, which should be considered in future diagnostic criteria for ALVC. Published on behalf of the European Society of Cardiology. All rights reserved.
Authors: Alberto Cipriani; Giulia Mattesi; Riccardo Bariani; Annagrazia Cecere; Nicolò Martini; Laura De Michieli; Stefano Da Pozzo; Simone Corradin; Giorgio De Conti; Alessandro Zorzi; Raffaella Motta; Manuel De Lazzari; Barbara Bauce; Sabino Iliceto; Cristina Basso; Domenico Corrado; Martina Perazzolo Marra Journal: Eur Radiol Date: 2022-07-05 Impact factor: 5.315
Authors: Eric D Smith; Neal K Lakdawala; Nikolaos Papoutsidakis; Gregory Aubert; Andrea Mazzanti; Anthony C McCanta; Prachi P Agarwal; Patricia Arscott; Lisa M Dellefave-Castillo; Esther E Vorovich; Kavitha Nutakki; Lisa D Wilsbacher; Silvia G Priori; Daniel L Jacoby; Elizabeth M McNally; Adam S Helms Journal: Circulation Date: 2020-05-06 Impact factor: 29.690
Authors: Marta Gigli; Davide Stolfo; Sharon L Graw; Marco Merlo; Caterina Gregorio; Suet Nee Chen; Matteo Dal Ferro; Alessia PaldinoMD; Giulia De Angelis; Francesca Brun; Jean Jirikowic; Ernesto E Salcedo; Sylvia Turja; Diane Fatkin; Renee Johnson; J Peter van Tintelen; Anneline S J M Te Riele; Arthur A M Wilde; Neal K Lakdawala; Kermshlise Picard; Daniela Miani; Daniele Muser; Giovanni Maria Severini; Hugh Calkins; Cynthia A James; Brittney Murray; Crystal Tichnell; Victoria N Parikh; Euan A Ashley; Chloe Reuter; Jiangping Song; Daniel P Judge; William J McKenna; Matthew R G Taylor; Gianfranco Sinagra; Luisa Mestroni Journal: Circulation Date: 2021-09-30 Impact factor: 29.690
Authors: Anna Gaertner; Julia Bloebaum; Andreas Brodehl; Baerbel Klauke; Katharina Sielemann; Astrid Kassner; Henrik Fox; Michiel Morshuis; Jens Tiesmeier; Uwe Schulz; Ralph Knoell; Jan Gummert; Hendrik Milting Journal: Genes (Basel) Date: 2021-06-08 Impact factor: 4.096
Authors: Leila Rouhi; Siyang Fan; Sirisha M Cheedipudi; Aitana Braza-Boïls; Maria Sabater Molina; Yan Yao; Matthew J Robertson; Cristian Coarfa; Juan R Gimeno; Pilar Molina; Priyatansh Gurha; Esther Zorio; Ali J Marian Journal: Cardiovasc Res Date: 2022-05-06 Impact factor: 13.081