2020
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation 2020, 141: 1872-1884. PMID: 32372669, PMCID: PMC7286080, DOI: 10.1161/circulationaha.119.044934.Peer-Reviewed Original ResearchConceptsLV late gadolinium enhancementLate gadolinium enhancementSevere ventricular arrhythmiasAcute myocardial injuryMyocardial injuryRight ventricular cardiomyopathyVentricular arrhythmiasGadolinium enhancementVentricular cardiomyopathyEjection fractionSevere arrhythmiasFrequent premature ventricular contractionsPathogenic plakophilin-2 mutationNormal LV systolic functionLeft ventricle ejection fractionRight ventricular ejection fractionPositron emission tomography scanArrhythmogenic right ventricular cardiomyopathyNormal ventricular functionLV systolic functionVentricle ejection fractionVentricular ejection fractionEmission tomography scanSmall case seriesPlakophilin-2 mutations
2019
Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation
Ng R, Manring H, Papoutsidakis N, Albertelli T, Tsai N, See CJ, Li X, Park J, Stevens TL, Bobbili PJ, Riaz M, Ren Y, Stoddard CE, Janssen PM, Bunch TJ, Hall SP, Lo YC, Jacoby DL, Qyang Y, Wright N, Ackermann MA, Campbell SG. Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation. JCI Insight 2019, 5 PMID: 31194698, PMCID: PMC6675562, DOI: 10.1172/jci.insight.128643.Peer-Reviewed Original Research