Research & Literature

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

Groeneweg JA, Bhonsale A, James CA, et al.

Circulation. Cardiovascular genetics 2015; (8(3)):437-46 doi:10.1161/CIRCGENETICS.114.001003.

Experience with genetic counseling: the adolescent perspective.

Pichini A, Shuman C, Sappleton K, et al.

Journal of genetic counseling 2016; (25(3)):583-95 doi:10.1007/s10897-015-9912-y.

Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Boyden LM, Kam CY, Hernández-Martín A, et al.

Human molecular genetics 2016; (25(2)):348-57 doi:10.1093/hmg/ddv481.

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.

Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation.

Puzzi L, Borin D, Martinelli V, et al.

Micron (Oxford, England : 1993) 2018; (106()):27-33 doi:10.1016/j.micron.2017.12.005.

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hershberger RE, Givertz MM, Ho CY, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(9)):899-909 doi:10.1038/s41436-018-0039-z.

Mutations in PERP Cause Dominant and Recessive Keratoderma.

Duchatelet S, Boyden LM, Ishida-Yamamoto A, et al.

The Journal of investigative dermatology 2019; (139(2)):380-390 doi:10.1016/j.jid.2018.08.026.

Arrhythmogenic Cardiomyopathy in 2018-2019: ARVC/ALVC or Both?

Bennett RG, Haqqani HM, Berruezo A, et al.

Heart, lung & circulation 2019; (28(1)):164-177 doi:10.1016/j.hlc.2018.10.013.

Clinical characteristics, treatment and prognosis of patients with idiopathic dilated cardiomyopathy: a tertiary center experience.

Hagar A, Pu XB, Chen SJ, et al.

Journal of geriatric cardiology : JGC 2019; (16(4)):320-328 doi:10.11909/j.issn.1671-5411.2019.04.004.

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.

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Kobayashi H, Shiohama T, Nakashima M, et al.

American journal of medical genetics. Part A 2020; (182(8)):1933-1938 doi:10.1002/ajmg.a.61626.

2020 Heart Failure Society of South Africa perspective on the 2016 European Society of Cardiology Chronic Heart Failure Guidelines.

Hitzeroth J, Mpe M, Klug E, et al.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2020; (110(8b)):13057.

Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.

Sato T, Okada S, Iwahana T, Kobayashi Y

Internal medicine (Tokyo, Japan) 2021; (60(7)):1119-1126 doi:10.2169/internalmedicine.5899-20.

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.

Sun Q, Wine Lee L, Hall EK, et al.

Pediatric dermatology 2021; (38(1)):31-38 doi:10.1111/pde.14478.

Acute heart failure due to dilated cardiomyopathy exacerbated by systemic parechovirus A1 infection in an infant.

Maki S, Aizawa Y, Ito Y, et al.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2021; (104()):273-275 doi:10.1016/j.ijid.2021.01.021.

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Yuan ZY, Cheng LT, Wang ZF, Wu YQ

Chinese medical journal 2021; (134(15)):1771-1779 doi:10.1097/CM9.0000000000001581.

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.

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Kopp J, Has C, Hotz A, et al.

Genes 2021; (12(8)) doi:10.3390/genes12081164.

Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome.

Ichikawa Y, Shibuya Y, Tanaka M, et al.

Cardiology in the young 2022; (32(6)):993-995 doi:10.1017/S1047951121004108.

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.

Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.

Binkhonain FK, Aldokhayel S, BinJadeed H, Madani A

Biologics : targets & therapy 2022; (16()):85-88 doi:10.2147/BTT.S362391.

The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy-A systematic review and meta-analysis.

Cirino AL, Harris SL, Murad AM, et al.

Journal of genetic counseling 2022; (31(6)):1290-1305 doi:10.1002/jgc4.1604.

DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort.

Di Lorenzo F, Marchionni E, Ferradini V, et al.

International journal of molecular sciences 2023; (24(3)) doi:10.3390/ijms24032490.

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.

Çimen T, Medeiros-Domingo A, Kolios A, et al.

Journal of clinical medicine 2023; (12(3)) doi:10.3390/jcm12030913.

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.

Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy Patients: A Single-Center Experience.

Al-Ghamdi BS, Alhadeq F, Alqahtani A, et al.

Cardiology research 2023; (14(5)):379-386 doi:10.14740/cr1531.

Ventricular Tachycardia Ablation in Patients With Desmoplakin Cardiomyopathy.

Ghannam M, Liang JJ, Hoogendoorn J, et al.

JACC. Clinical electrophysiology 2024; (10(3)):502-511 doi:10.1016/j.jacep.2023.11.018.

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.

LV-predominant arrhythmogenic cardiomyopathy related to pathogenic DSP-variant.

Ahmad S, El Sharu H, Fernandes R, et al.

Clinical case reports 2024; (12(6)):e9003 doi:10.1002/ccr3.9003.

Human Genetics of Cardiomyopathies.

Houweling AC, Lekanne Deprez RH, Wilde AAM

Advances in experimental medicine and biology 2024; (1441()):977-990 doi:10.1007/978-3-031-44087-8_63.

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Çetinarslan T, Yazıcı H, Erdoğan KM, et al.

Pediatric dermatology 2024; (41(6)):1174-1178 doi:10.1111/pde.15654.

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.

Endurance exercise promotes episodes of myocardial injury in individuals with a pathogenic desmoplakin (DSP) variant.

Jacobsen AP, Chiampas K, Muller SA, et al.

Heart rhythm 2025; (22(11)):2924-2931 doi:10.1016/j.hrthm.2024.12.035.

Naxos Disease and Related Cardio-Cutaneous Syndromes.

Protonotarios A, Asimaki A, Basso C, et al.

JACC. Advances 2025; (4(2)):101547 doi:10.1016/j.jacadv.2024.101547.

Restoring Skin Hydration and Barrier Function: Mechanistic Insights Into Basic Emollients for Xerosis Cutis.

Fluhr JW, Muguet V, Christen-Zaech S

International journal of dermatology 2025; (64 Suppl 1()):5-12 doi:10.1111/ijd.17790.

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.

Desmoplakin Haploinsufficiency Underlies Cell-Cell Adhesion Failure in DSP Cardiomyopathy and is Rescued by Transcriptional Activation.

Smith ED, Jin K, Ferguson B, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.06.01.657304.

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.

Giannoni A, Modena M, Montuoro S, et al.

JACC. Case reports 2025; (30(14)):103688 doi:10.1016/j.jaccas.2025.103688.

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.

Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions.

Hamzehlou S, Mortlock RD, Echeandia-Francis C, et al.

Pediatric dermatology 2026; (43(2)):444-447 doi:10.1111/pde.70048.

DSP-palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy.

Brandt E, Heliö K, Harjama L, et al.

Clinical and experimental dermatology 2026; (51(2)):263-272 doi:10.1093/ced/llaf443.

Partial Spiky Acantholysis due to Loss of Desmosomal Attachments in Erythrokeratodermia Cardiomyopathy Syndrome.

Ko CJ, MacGibeny M, Choate K

Journal of cutaneous pathology 2026; (53(2)):186-189 doi:10.1111/cup.70016.

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.

Stepwise Management of Refractory Ventricular Arrhythmias in Desmoplakin Cardiomyopathy: A Case Report.

Ibitamuno G, Wittwer ED, Crespo-Diaz RJ, et al.

Cureus 2025; (17(12)):e99789 doi:10.7759/cureus.99789.

Inflammatory cardiomyopathy: Position paper of the Italian Society of Cardiology Working Group on cardiomyopathies and pericardial diseases in collaboration with the Italian Society of Cardiology Working Group on cardiac magnetic resonance.

Imazio M, Jahnsen V, Merlo M, et al.

International journal of cardiology 2026; (451()):134249 doi:10.1016/j.ijcard.2026.134249.

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.

Recurrent Ventricular Tachycardia in a Young Adult-Imaging and Genetic Evidence of DSP-Associated Arrhythmogenic Cardiomyopathy: A Case Report.

Gomez LE, Martinenghi N, Ortiz-Genga M, et al.

Case reports in cardiology 2026; (2026()):5899286 doi:10.1155/cric/5899286.

Cardiac Resynchronization Therapy: A Review.

Ternes CM, Kim JA, Basu A, et al.

JAMA 2026; (335(20)):1796-1807 doi:10.1001/jama.2026.4893.

Attitudes toward clinical genetic testing and data sharing among adolescents and young adults with congenital heart disease.

Madanay F, Gutierrez AM, Nayan R, et al.

Patient education and counseling 2026; (151()):109774 doi:10.1016/j.pec.2026.109774.

Desmoplakin Mutations in Cardiac Fibroblasts Cause TGFβ1-Mediated Pathological Fibrogenesis in Desmoplakin Cardiomyopathy Via Beclin-1 Regulation.

Wei C, Shou W, Chan SF, et al.

Circulation research 2026; (139(7)):e325512 doi:10.1161/CIRCRESAHA.124.325512.

The treatment process of a case with dilated cardiomyopathy, severe mitral insufficiency, and coaptation defect in the context of decompensated clinical condition with left ventricular assist device placement.

Ön ŞŞ, Dogan E, Tuncer ON, et al.

Cardiology in the young 2025; (35(6)):1273-1278 doi:10.1017/S1047951125100607.

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.