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Page 1
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies.
Paldino A, Dal Ferro M, Stolfo D, Gandin I, Medo K, Graw S, Gigli M, Gagno G, Zaffalon D, Castrichini M, Masè M, Cannatà A, Brun F, Storm G, Severini GM, Lenarduzzi S, Girotto G, Gasparini P, Bortolotti F, Giacca M, Zacchigna S, Merlo M, Taylor MRG, Mestroni L, Sinagra G. Paldino A, et al. J Am Coll Cardiol. 2022 Nov 22;80(21):1981-1994. doi: 10.1016/j.jacc.2022.08.804. J Am Coll Cardiol. 2022. PMID: 36396199 Free PMC article.
RESULTS: Survival analysis revealed that SCD/MVA events occurred more frequently in patients without a DCM phenotype and in carriers of DSP, PKP2, LMNA, and FLNC variants. However, after adjustment for age and sex, genotype-based classification, but not phenotype-based cla …
RESULTS: Survival analysis revealed that SCD/MVA events occurred more frequently in patients without a DCM phenotype and in carriers of DSP, …
Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.
Pergola V, Trancuccio A, Kukavica D, Mazzanti A, Napolitano C, Scilabra GG, Steele K, Memmi M, Gambelli P, Sugamiele A, Latini AC, Pisani N, Mazzotta G, Bloise R, Morini M, Marino M, Priori SG. Pergola V, et al. Circulation. 2025 Jul 29;152(4):233-245. doi: 10.1161/CIRCULATIONAHA.124.073475. Epub 2025 May 23. Circulation. 2025. PMID: 40406876 Free article.
RESULTS: We included 533 DGV carriers (59% male; median [interquartile range] age, 39 [22-54] years) from 214 families: 503 of 533 (94%) had a single DGV (212 [40%] PKP2, 160 [30%] DSP, 97 [18%] DSG2, 34 [6%] DSC2) and 30 of 533 (6%) double DGVs. Overall, 83 of 533 (16%) e …
RESULTS: We included 533 DGV carriers (59% male; median [interquartile range] age, 39 [22-54] years) from 214 families: 503 of 533 (94%) had …
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L, Hu Y, Saguner AM, Bauce B, Liu Y, Shi A, Guan F, Chen Z, Bueno Marinas M, Wu L, Foltran D, Hermida A, Fressart V, Pinci S, Celeghin R, Chen Z, Zhang B, Lin Y, Liu X, Cason M, Martini M, Rigato I, Brunckhorst C, Biller R, Basso C, Yang B, Zhao X, Cadrin-Tourigny J, Gasperetti A, James CA, Zhou X, Gandjbakhch E, Pilichou K, Duru F, Hu S. Chen L, et al. Circulation. 2025 Apr 29;151(17):1213-1230. doi: 10.1161/CIRCULATIONAHA.124.072226. Epub 2025 Mar 24. Circulation. 2025. PMID: 40123482
During follow-up, end-stage heart failure (P<0.001) and malignant ventricular arrhythmias (P=0.004) were significantly more frequent in multiple-variant compared with single-variant carriers. Compared with PKP2 patients, DSG2/DSC2 patients exhibited a significantly high …
During follow-up, end-stage heart failure (P<0.001) and malignant ventricular arrhythmias (P=0.004) were significantly more frequent in m …
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H, Anderson JL, Brody JA, Halford JL, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LSB, Risch L, Gula LJ, Kwee LC, Chaffin MD, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RAJ, Gabriel S, Knight S, Furukawa T, Blackwell TW, Nauffal V, Wang X, Min YI, Yoneda ZT, Laksman ZWM, Bezzina CR, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Benjamin EJ, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Rienstra M, Chung MK, S Olesen M, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJF, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y; Regeneron Genetics Center; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Holm H, Stefansson K, … See abstract for full author list ➔ Choi SH, et al. Nat Genet. 2025 Mar;57(3):548-562. doi: 10.1038/s41588-025-02074-9. Epub 2025 Mar 6. Nat Genet. 2025. PMID: 40050430
In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and KDM5B. We further identified associations between AF and rare structural variants owing to deletions in CTNNA3 and duplications of GATA4. .. …
In burden tests of rare coding variation, we identified novel associations between AF and the genes MYBPC3, LMNA, PKP2, FAM189A2 and …
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy.
Tsui H, van Kampen SJ, Han SJ, Meraviglia V, van Ham WB, Casini S, van der Kraak P, Vink A, Yin X, Mayr M, Bossu A, Marchal GA, Monshouwer-Kloots J, Eding J, Versteeg D, de Ruiter H, Bezstarosti K, Groeneweg J, Klaasen SJ, van Laake LW, Demmers JAA, Kops GJPL, Mummery CL, van Veen TAB, Remme CA, Bellin M, van Rooij E. Tsui H, et al. Sci Transl Med. 2023 Mar 22;15(688):eadd4248. doi: 10.1126/scitranslmed.add4248. Epub 2023 Mar 22. Sci Transl Med. 2023. PMID: 36947592
Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the genetic basis of ACM is well characterized, the underlying disease-driving mechanisms remain unresolved. ...Additional proteomics analyses identif …
Many patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 (PKP2). Although the geneti …
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk.
Vad OB, Monfort LM, Paludan-Müller C, Kahnert K, Diederichsen SZ, Andreasen L, Lotta LA, Nielsen JB, Lundby A, Svendsen JH, Olesen MS; Geisinger MyCode Community Health Initiative and the Regeneron Genetics Center (RGC) Research Team. Vad OB, et al. JAMA Cardiol. 2024 Aug 1;9(8):732-740. doi: 10.1001/jamacardio.2024.1528. JAMA Cardiol. 2024. PMID: 38922602 Free PMC article.
Rare pLOF variants in 6 genes (TTN, RPL3L, PKP2, CTNNA3, KDM5B, and C10orf71) were associated with AF. Of these, TTN, RPL3L, PKP2, CTNNA3, and KDM5B replicated in an external cohort. ...
Rare pLOF variants in 6 genes (TTN, RPL3L, PKP2, CTNNA3, KDM5B, and C10orf71) were associated with AF. Of these, TTN, RPL3L, PKP2 …
Role of plakophilin-2 expression on exercise-related progression of arrhythmogenic right ventricular cardiomyopathy: a translational study.
Cerrone M, Marrón-Liñares GM, van Opbergen CJM, Costa S, Bourfiss M, Pérez-Hernández M, Schlamp F, Sanchis-Gomar F, Malkani K, Drenkova K, Zhang M, Lin X, Heguy A, Velthuis BK, Prakken NHJ, LaGerche A, Calkins H, James CA, Te Riele ASJM, Delmar M. Cerrone M, et al. Eur Heart J. 2022 Mar 21;43(12):1251-1264. doi: 10.1093/eurheartj/ehab772. Eur Heart J. 2022. PMID: 34932122 Free PMC article.
We investigated transcriptomic changes caused by endurance training in mice deficient in plakophilin-2 (PKP2cKO), a desmosomal protein important for intercalated disc formation, commonly mutated in ARVC and controls. ...Exercise accelerated cardiac dysfunction, an e …
We investigated transcriptomic changes caused by endurance training in mice deficient in plakophilin-2 (PKP2cKO), a desmosomal …
Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics.
Bradford WH, Zhang J, Gutierrez-Lara EJ, Liang Y, Do A, Wang TM, Nguyen L, Mataraarachchi N, Wang J, Gu Y, McCulloch A, Peterson KL, Sheikh F. Bradford WH, et al. Nat Cardiovasc Res. 2023 Dec;2(12):1246-1261. doi: 10.1038/s44161-023-00370-3. Epub 2023 Dec 7. Nat Cardiovasc Res. 2023. PMID: 39196150 Free PMC article.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease characterized by cardiac arrhythmias, in which fibrofatty deposition leads to heart failure, with no effective treatments. Plakophilin 2 (PKP2) is the most frequently muta …
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease characterized by cardiac arrhythmias, in which fibro …
Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC.
Pérez-Hernández M, van Opbergen CJM, Bagwan N, Vissing CR, Marrón-Liñares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L, Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone M, Jensen THL, Qvortrup K, Bundgaard H, Delmar M, Lundby A. Pérez-Hernández M, et al. Circulation. 2022 Sep 13;146(11):851-867. doi: 10.1161/CIRCULATIONAHA.122.060454. Epub 2022 Aug 12. Circulation. 2022. PMID: 35959657 Free PMC article.
More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophilin-2). METHODS: We describe a comprehensive characterization of the ARVC molecular landscape as determined by high-resolution ma …
More than 40% of reported genetic variants linked to ARVC reside in the PKP2 gene, which encodes the PKP2 protein (plakophi …
Family Screening in Relatives at Risk for Plakophilin-2-Associated Arrhythmogenic Right Ventricular Cardiomyopathy.
Muller SA, Asatryan B, Gasperetti A, Cramer MJ, Amin AS, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Oerlemans MIFJ, Tichnell C, Yap SC, Murray B, Zimmerman SL, van Tintelen JP, Calkins H, Te Riele ASJM, James CA. Muller SA, et al. Circulation. 2025 Aug 5;152(5):313-326. doi: 10.1161/CIRCULATIONAHA.125.074058. Epub 2025 Jun 17. Circulation. 2025. PMID: 40525281 Free PMC article.
We aimed to develop a safe, evidence-based plakophilin-2 (PKP2)-specific longitudinal screening algorithm. METHODS: We included 295 relatives (41% male; age 30.9 years [18.0-47.7 years]) with a pathogenic or likely pathogenic PKP2 variant from 145 fami …
We aimed to develop a safe, evidence-based plakophilin-2 (PKP2)-specific longitudinal screening algorithm. METHODS: We …
65 results