Research & Literature

Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.

Herbert Pratt C, Potter CS, Fairfield H, et al.

Experimental and molecular pathology 2015; (98(2)):164-72.

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.

Molho-Pessach V, Sheffer S, Siam R, et al.

Pediatric dermatology 2015; (32(5)):641-6 doi:10.1111/pde.12541.

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.

Protonotarios A, Anastasakis A, Panagiotakos DB, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2016; (18(4)):610-6 doi:10.1093/europace/euv061.

Scorpion-related cardiomyopathy: Clinical characteristics, pathophysiology, and treatment.

Abroug F, Souheil E, Ouanes I, et al.

Clinical toxicology (Philadelphia, Pa.) 2015; (53(6)):511-8 doi:10.3109/15563650.2015.1030676.

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.

Polivka L, Bodemer C, Hadj-Rabia S

Journal of medical genetics 2016; (53(5)):289-95 doi:10.1136/jmedgenet-2015-103403.

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Montané LS, Marín OR, Rivera-Pedroza CI, et al.

American journal of medical genetics. Part A 2016; (170(6)):1595-9 doi:10.1002/ajmg.a.37619.

Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy.

Islam AM, Rahman MT, Chowdhury AH

Cardiovascular diagnosis and therapy 2016; (6(5)):462-465 doi:10.21037/cdt.2016.03.07.

Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions.

Walsh R, Cook SA

Clinical chemistry 2017; (63(1)):116-128 doi:10.1373/clinchem.2016.254698.

Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.

Tardif J, Pratte A, Laberge AM

Prenatal diagnosis 2018; (38(1)):67-74 doi:10.1002/pd.5055.

Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

Kim SJ, Ko JM, Shin SH, et al.

Annals of clinical and laboratory science 2017; (47(2)):213-216.

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

Finsterer J, Stöllberger C, Wollmann E, et al.

Molecular genetics and metabolism reports 2016; (8()):1-3 doi:10.1016/j.ymgmr.2016.05.005.

A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Pan Y, Zhao H, Chen A, Huang X

Medicine 2017; (96(36)):e7972 doi:10.1097/MD.0000000000007972.

Scorpion-related cardiomyopathy and acute pulmonary edema in a child who is stung by Leiurus abdullahbayrami.

Dokur M, Dogan M, Yagmur EA

Turkish journal of emergency medicine 2017; (17(3)):104-108 doi:10.1016/j.tjem.2016.12.005.

Harmful Effects of Exercise Intensity and Exercise Duration in Patients With Arrhythmogenic Cardiomyopathy.

Lie ØH, Dejgaard LA, Saberniak J, et al.

JACC. Clinical electrophysiology 2018; (4(6)):744-753 doi:10.1016/j.jacep.2018.01.010.

Prediction of Life-Threatening Ventricular Arrhythmia in Patients With Arrhythmogenic Cardiomyopathy: A Primary Prevention Cohort Study.

Lie ØH, Rootwelt-Norberg C, Dejgaard LA, et al.

JACC. Cardiovascular imaging 2018; (11(10)):1377-1386 doi:10.1016/j.jcmg.2018.05.017.

Pain mechanisms in hereditary palmoplantar keratodermas.

Weinberg RL, Coulombe PA, Polydefkis M, Caterina MJ

The British journal of dermatology 2020; (182(3)):543-551 doi:10.1111/bjd.17880.

Novel desmoplakin mutations in familial Carvajal syndrome.

Yermakovich D, Sivitskaya L, Vaikhanskaya T, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018; (37(4)):263-266.

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.

Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA

The British journal of dermatology 2021; (184(3)):393-400 doi:10.1111/bjd.19144.

Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.

Piriou N, Marteau L, Kyndt F, et al.

ESC heart failure 2020; (7(4)):1520-1533 doi:10.1002/ehf2.12686.

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.

Smith ED, Lakdawala NK, Papoutsidakis N, et al.

Circulation 2020; (141(23)):1872-1884 doi:10.1161/CIRCULATIONAHA.119.044934.

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies.

Popa-Fotea NM, Cojocaru C, Scafa-Udriste A, et al.

Journal of clinical medicine 2020; (9(7)) doi:10.3390/jcm9072111.

Heart Failure With Reduced Ejection Fraction: A Review.

Murphy SP, Ibrahim NE, Januzzi JL

JAMA 2020; (324(5)):488-504 doi:10.1001/jama.2020.10262.

Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy.

Chelko SP, Keceli G, Carpi A, et al.

Science translational medicine 2021; (13(581)) doi:10.1126/scitranslmed.abf0891.

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction.

Park J, Cho YG, Park HW, Cho JS

Frontiers in pediatrics 2021; (9()):609389 doi:10.3389/fped.2021.609389.

Role of Exercise as a Modulating Factor in Arrhythmogenic Cardiomyopathy.

Zorzi A, Cipriani A, Bariani R, et al.

Current cardiology reports 2021; (23(6)):57 doi:10.1007/s11886-021-01489-0.

Desmoplakin cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy: two distinct forms of cardiomyopathy?

Kukavica D, Trancuccio A, Arnò C, et al.

Minerva cardiology and angiology 2022; (70(2)):217-237 doi:10.23736/S2724-5683.21.05804-X.

Clinical characteristics and risk stratification of desmoplakin cardiomyopathy.

Wang W, Murray B, Tichnell C, et al.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2022; (24(2)):268-277 doi:10.1093/europace/euab183.

Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.

Mandal KD, Shrestha PN, Ghimire A, et al.

JNMA; journal of the Nepal Medical Association 2022; (60(246)):187-191 doi:10.31729/jnma.7102.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Vermeer MCSC, Andrei D, Kramer D, et al.

Experimental dermatology 2022; (31(6)):970-979 doi:10.1111/exd.14571.

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

Ou S, Cesarato N, Mauran P, et al.

Clinical and experimental dermatology 2022; (47(7)):1424-1426 doi:10.1111/ced.15210.

Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result.

Fusco KM, Hylind RJ, Cirino AL, et al.

Journal of genetic counseling 2022; (31(6)):1273-1281 doi:10.1002/jgc4.1602.

Case report: Multiple biventricular aneurysms in arrhythmogenic cardiomyopathy.

Lin J, Lu Z, Lin M, et al.

Frontiers in cardiovascular medicine 2022; (9()):1034703 doi:10.3389/fcvm.2022.1034703.

PANoptosis is a prominent feature of desmoplakin cardiomyopathy.

Olcum M, Rouhi L, Fan S, et al.

The journal of cardiovascular aging 2023; (3(1)) doi:10.20517/jca.2022.34.

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.

Heliö K, Brandt E, Vaara S, et al.

Frontiers in cardiovascular medicine 2023; (10()):1130903 doi:10.3389/fcvm.2023.1130903.

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

Pantou MP, Gourzi P, Vlagkouli V, et al.

BMC medical genomics 2023; (16(1)):95 doi:10.1186/s12920-023-01527-6.

Pachyonychia Congenita: Clinical Features and Future Treatments.

McCarthy RL, de Brito M, O'Toole E

The Keio journal of medicine 2025; (74(1)):52-60 doi:10.2302/kjm.2023-0012-IR.

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.

Zhao XJ, Bai CY, Li XY, et al.

Clinical, cosmetic and investigational dermatology 2023; (16()):2737-2748 doi:10.2147/CCID.S429030.

Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.

Wang X, He Y, Wang X, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2284 doi:10.1002/mgg3.2284.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Arıcı S, Akalın F, Geckinli BB

Cardiology in the young 2024; (34(5)):1131-1133 doi:10.1017/S1047951124000222.

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.

Andrei D, Bremer J, Kramer D, et al.

Experimental dermatology 2024; (33(3)):e15046 doi:10.1111/exd.15046.

A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.

Carrick RT, Gasperetti A, Protonotarios A, et al.

European heart journal 2024; (45(32)):2968-2979 doi:10.1093/eurheartj/ehae409.

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.

Gasperetti A, Carrick RT, Protonotarios A, et al.

European heart journal 2025; (46(4)):362-376 doi:10.1093/eurheartj/ehae571.

Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy.

Choi NH, Cherny S, Berul CI, et al.

Circulation. Arrhythmia and electrophysiology 2024; (17(11)):e013114 doi:10.1161/CIRCEP.124.013114.

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.

Zhou Q, Chen M, Tao E

Frontiers in genetics 2024; (15()):1491649 doi:10.3389/fgene.2024.1491649.

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).

Binfadel M, Aleem MU, Alhabdan M, et al.

Orphanet journal of rare diseases 2025; (20(1)):137 doi:10.1186/s13023-025-03612-8.

Noncompaction and dilated cardiomyopathy in carvajal syndrome.

Tosun D, Akçay N, Bingöl İ, Akbulut DG

Cardiology in the young 2025; (35(5)):1073-1075 doi:10.1017/S1047951125001532.

Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy.

Smith E, Gasperetti A, Carrick RT, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.06.16.25329734.

Desmoplakin Cardiomyopathy Presenting as Recurrent Myocarditis Treated With Immunosuppression.

Abdaem J, Leader N, Ballantyne BA, et al.

JACC. Case reports 2025; (30(27)):104927 doi:10.1016/j.jaccas.2025.104927.

Clinical care of family members of patients with dilated cardiomyopathy.

Verdonschot JAJ, Kaski JP, Asselbergs FW, et al.

European heart journal 2025; (46(43)):4569-4582 doi:10.1093/eurheartj/ehaf571.

A Case of Premature Ventricular Contraction-Induced Cardiomyopathy.

Mazar M, Hingorany S

Cureus 2025; (17(8)):e91034 doi:10.7759/cureus.91034.

Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.

Nikitina E, Kofeynikova O, Zlotina A, et al.

World journal of clinical pediatrics 2025; (14(4)):108329 doi:10.5409/wjcp.v14.i4.108329.

Desmoplakin Cardiomyopathy: Gene Dose-Dependent Myocardial Remodeling, Arrhythmias, and Premature Death.

Guazzo A, Perumal Vanaja I, Di Bona A, et al.

JACC. Clinical electrophysiology 2026; (12(4)):747-764 doi:10.1016/j.jacep.2025.10.031.

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report.

Premkumar L, Preethi P S, Swaminathan A, Sundaram M

Cureus 2025; (17(12)):e100318 doi:10.7759/cureus.100318.

Recurrent myocarditis as a clinical gateway to desmoplakin cardiomyopathy: a case report.

Reyes T RE, Vargas-Hernández DA, Cañón DP, Figueroa JF

European heart journal. Case reports 2026; (10(3)):ytag062 doi:10.1093/ehjcr/ytag062.

Imaging Naxos disease and related cardiocutaneous syndromes: the NAXCARE multimodality approach.

Protonotarios I, Alsergani H, Anastasakis A, et al.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese 2026; doi:10.1016/j.hjc.2026.03.007.

Three-dimensional Mapping of Fibrosis Distribution in Desmoplakin Cardiomyopathy from Cardiac MRI.

Jilberto J, McManus B, Moghrabi A, et al.

Radiology. Cardiothoracic imaging 2026; (8(4)):e260010 doi:10.1148/ryct.260010.

Homozygous Nonsense DSP Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings.

Al-Mutairi DA, Al-Qbandi MA, AlTurki A, et al.

Journal of clinical medicine 2026; (15(15)) doi:10.3390/jcm15155933.

Myocarditis Revealing a Pathogenic Desmoplakin (DSP) Variant: Implications for Genetic Testing Pathways.

Reka B, Dungu JN

Cureus 2026; (18(9)):e116569 doi:10.7759/cureus.116569.