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Carvajal Syndrome

Carvajal Syndrome (Genetic Cardiocutaneous Syndrome) — Comprehensive Disease Characteristics Report

2026-04-26
Falcon MONDO:0011581 Model: Edison Scientific Literature 29 citations

Carvajal Syndrome (Genetic Cardiocutaneous Syndrome) — Comprehensive Disease Characteristics Report

Target Disease

  • Disease name: Carvajal syndrome
  • Category: Genetic cardiocutaneous syndrome (desmosomal disease)
  • Probable MONDO concept(s) observed in retrieved curated evidence: arrhythmogenic cardiomyopathy with wooly hair and keratoderma (MONDO:0011581) (sun2021hairandskin pages 1-2)

1. Disease Information

1.1 Concise overview (current understanding)

Carvajal syndrome is a rare inherited cardiocutaneous disorder classically defined by the triad of woolly/curly hair, palmoplantar keratoderma (often striate/focal), and predominantly left-ventricular (LV) cardiomyopathy that often presents in childhood and may progress to heart failure, malignant ventricular arrhythmias, sudden death, or need for heart transplantation. It is most commonly caused by pathogenic variants in the desmosomal gene DSP (desmoplakin), reflecting shared reliance of epidermis and myocardium on desmosome-mediated mechanical coupling. (sun2021hairandskin pages 4-5, karvonen2022anoveldesmoplakin pages 8-8)

1.2 Key identifiers and ontology mappings (from retrieved sources)

1.3 Synonyms / alternative names

  • “Naxos disease variant” (explicitly used as Naxos disease variant (Carvajal syndrome)) (binfadel2025genotypeandcardiac pages 1-2).
  • Combined/overlapping nomenclature in the literature includes: “Naxos-Carvajal disease,” “Carvajal/Naxos syndrome,” “Naxos-like syndrome,” reflecting phenotypic overlap between desmosomal cardiocutaneous disorders. (molho‐pessach2015twonovelhomozygous pages 5-6)

1.4 Evidence provenance: individual vs aggregated resources

Most available information in the retrieved set is derived from case reports/series, small cohorts, and systematic or narrative reviews rather than large EHR-based datasets, which is typical for ultra-rare syndromes. (sun2021hairandskin pages 1-2, binfadel2025genotypeandcardiac pages 1-2, polivka2016combinationofpalmoplantar pages 2-3)

2. Etiology

2.1 Disease causal factors

Primary cause: germline DSP (desmoplakin) variants causing defective desmosome structure/function, resulting in combined skin/hair and myocardial disease (a “desmosomal disease”). (sun2021hairandskin pages 1-2, karvonen2022anoveldesmoplakin pages 8-8)

Abstract-supported primary claim (quote): A review of DSP cardiomyopathy notes: “The first association between DSP genetic variants and the presence of a myocardial disease referred to patients with Carvajal syndrome.” (Apr 2023; URL: https://doi.org/10.3390/jcm12072660) (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)

2.2 Risk factors

2.3 Protective factors

No specific genetic or environmental protective factors were identified in the retrieved evidence excerpts.

2.4 Gene–environment interactions

No direct GxE studies were identified in the retrieved evidence excerpts. However, the desmosomal mechanism implies that mechanical stress could plausibly modulate myocardial injury risk; this remains to be substantiated by disease-specific studies (not established in the provided sources).

3. Phenotypes

3.1 Core phenotype spectrum (with characteristics)

Classic triad (high-level): - Woolly/curly hair (often congenital) - Palmoplantar keratoderma (PPK) (often striate or focal; tends to appear in early childhood) - Cardiomyopathy (commonly LV-dominant dilated/arrhythmogenic phenotype; childhood onset) (sun2021hairandskin pages 4-5, karvonen2022anoveldesmoplakin pages 8-8, polivka2016combinationofpalmoplantar pages 2-3)

Representative image evidence: A 2024 Carvajal case report shows cutaneous findings (woolly hair and palmoplantar keratoderma) and a 4-chamber cardiac MRI with dilated ventricles and reduced systolic function (Sep 2024; URL: https://doi.org/10.33963/v.phj.101664). (ziołkowska2024carvajalsyndromerelated media 9732cda8)

Additional/variable features reported in reviews/series: poor dentition/enamel defects, nail dystrophy, ichthyosis/erythrokeratodermia-spectrum skin changes in related DSP cardiocutaneous phenotypes. (sun2021hairandskin pages 4-5)

3.2 Age of onset / progression

3.3 Frequency statistics (recently cited quantitative data)

3.4 Quality of life impact

Direct validated QoL instrument results (e.g., SF-36, EQ-5D) were not identified in the retrieved excerpts. Clinically, progressive heart failure, ICD shocks, transplantation, and visible cutaneous manifestations imply major QoL burden. (binfadel2025genotypeandcardiac pages 1-2, ziołkowska2024carvajalsyndromerelated pages 1-2)

3.5 Suggested HPO terms (non-exhaustive)

4. Genetic / Molecular Information

4.1 Causal genes

4.2 Pathogenic variant classes and examples (from retrieved primary reports)

Loss-of-function (LoF) is a common mechanism: - Homozygous DSP frameshift truncation: 5208_5209delAG → frameshift downstream of amino acid 1736 with premature truncation of the predominant cardiac isoform DSP-1; associated with severe early-onset biventricular cardiomyopathy, woolly hair, and acantholytic PPK. (Jul 2011; URL: https://doi.org/10.1007/s00392-011-0345-9) (williams2011noveldesmoplakinmutation pages 2-5, williams2011noveldesmoplakinmutation pages 1-2) - Compound heterozygous DSP variants (2024 case): de novo truncation c.1339C>T and a paternally inherited missense c.8204G>C (p.Gly2735Ala) associated with severe biventricular cardiomyopathy and arrhythmia requiring transplant; the missense was reported as extremely rare in gnomAD in the case report narrative. (Sep 2024; URL: https://doi.org/10.33963/v.phj.101664) (ziołkowska2024carvajalsyndromerelated pages 1-2)

Genotype–phenotype correlation clues (review-level): DSP variant location appears to correlate with cardiocutaneous phenotype patterns; truncations removing the C-terminus are emphasized in classic Carvajal syndrome, while other domain-localized variants can yield overlapping dominant or recessive DSP cardiomyopathy phenotypes. (sun2021hairandskin pages 4-5)

4.3 Variant interpretation framework

The retrieved case literature and reviews interpret truncating/LoF DSP variants as pathogenic and frequently invoke nonsense-mediated decay (NMD) / haploinsufficiency as a mechanism in some dominant DSP cardiocutaneous syndromes. (maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, ziołkowska2024carvajalsyndromerelated pages 1-2)

4.4 Modifier genes / epigenetics

No validated modifier genes specific to Carvajal syndrome were identified in the retrieved excerpts.

Research direction note: A completed exploratory study tested feasibility of cardiomyocyte-derived DNA for genetic/epigenetic analyses of ACM genes including DSP (NCT03177018). (NCT03177018 chunk 1)

5. Environmental Information

No specific environmental, lifestyle, or infectious triggers were identified as causal in the retrieved evidence excerpts. The disease is primarily genetic, though clinical management often includes avoidance of arrhythmia triggers in broader ACM practice (not directly evidenced here).

6. Mechanism / Pathophysiology

6.1 Core mechanism (causal chain)

Upstream trigger: Germline DSP pathogenic variants → desmosome dysfunction.

Cellular/tissue consequence: Impaired anchoring of intermediate filaments (keratin/desmin) and altered desmosomal protein localization → compromised mechanical integrity and electrical coupling, contributing to conduction defects, myocardial injury and remodeling (fibrosis/fibrofatty replacement), and progressive cardiomyopathy. (maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)

Clinical manifestation: LV-dominant or biventricular cardiomyopathy with ventricular arrhythmias and heart failure plus cutaneous phenotypes (woolly hair, PPK). (sun2021hairandskin pages 4-5, williams2011noveldesmoplakinmutation pages 2-5)

6.2 Mechanistic evidence highlights

  • A dominant DSP cardiocutaneous cohort paper links DSP LoF to cardiac structural/electrical pathology, stating mislocalization of desmosomal proteins with reduced connexin 43 is associated with “conduction defects, fibrofatty infiltration and cardiomyopathy.” (Jan 2019; URL: https://doi.org/10.1111/bjd.17388) (maruthappu2019loss‐of‐functiondesmoplakini pages 7-11)
  • A clinical review frames DSP as essential for cardiomyocyte cell-to-cell adhesion and summarizes the emerging entity of “desmoplakin cardiomyopathy,” characterized by LV involvement, extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury, building historically from Carvajal syndrome observations. (Apr 2023; URL: https://doi.org/10.3390/jcm12072660) (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)

6.3 Suggested ontology terms

GO biological process (examples): - Desmosome organization (GO:0031581) - Cell-cell adhesion (GO:0098609) - Intermediate filament organization (GO:0045109) - Cardiac muscle tissue remodeling (GO:0055001) - Regulation of cardiac conduction (e.g., GO terms around cardiac muscle cell action potential/conduction)

Cell Ontology (CL) — key cell types implicated: - Keratinocyte (CL:0000312) - Cardiomyocyte / cardiac muscle cell (CL:0000746)

GO cellular component (examples): - Desmosome (GO:0030057) - Intercalated disc (GO:0014704)

7. Anatomical Structures Affected

7.1 Organ-level

7.2 Suggested UBERON terms

8. Temporal Development

8.1 Onset

  • Cutaneous/hair findings often appear early (hair congenital; keratoderma in toddler age), potentially enabling pre-symptomatic identification of children at risk for cardiac death. (williams2011noveldesmoplakinmutation pages 1-2)

8.2 Progression / staging (clinical)

  • Disease can progress from asymptomatic or mild early findings to progressive ventricular dysfunction, ventricular arrhythmias, syncope, and end-stage heart failure requiring transplant. (binfadel2025genotypeandcardiac pages 1-2, ziołkowska2024carvajalsyndromerelated pages 1-2)

9. Inheritance and Population

9.1 Inheritance

9.2 Epidemiology

Robust prevalence/incidence estimates were not identified in the retrieved excerpts. The 2025 cohort and prior literature note geographic clustering and reports from regions including Greece/Turkey/Israel/Saudi Arabia/India/Ecuador, but these are not population-based estimates. (binfadel2025genotypeandcardiac pages 1-2)

10. Diagnostics

10.1 Clinical recognition

The combination of woolly hair and PPK (especially when distinct from family members) is emphasized as a clinical cue that should prompt cardiac evaluation and genetic testing. (sun2021hairandskin pages 1-2, karvonen2022anoveldesmoplakin pages 8-8, maruthappu2019loss‐of‐functiondesmoplakini pages 7-11)

10.2 Cardiac testing used in real-world practice (from cohorts/case reports)

10.3 Genetic testing

Molecular confirmation via DSP sequencing (single-gene, panel, or exome) is used in reported cases and recommended when dermatologic warning signs are present. (karvonen2022anoveldesmoplakin pages 8-8, williams2011noveldesmoplakinmutation pages 2-5)

10.4 Differential diagnosis

11. Outcome / Prognosis

11.1 Prognostic patterns

  • Severe pediatric disease may lead to transplantation or early death; in the 10-patient Saudi pediatric cohort, 4 underwent transplant and 3 died awaiting transplant. (binfadel2025genotypeandcardiac pages 1-2)
  • Reviews summarize a high-risk course where a substantial fraction develop heart failure and many die before early adulthood without intervention, though survival into adulthood is reported in some families/cases. (sun2021hairandskin pages 4-5, molho‐pessach2015twonovelhomozygous pages 3-5)

11.2 Prognostic factors

Severity of cutaneous signs (e.g., presence of PPK in some dominant DSP families) was associated with more severe cardiac symptoms in one cohort, suggesting potential phenotype-based risk stratification. (maruthappu2019loss‐of‐functiondesmoplakini pages 7-11)

12. Treatment

12.1 Current applications / real-world implementations

Carvajal syndrome management is primarily supportive and follows cardiomyopathy and arrhythmia standards of care: - Guideline-directed heart failure pharmacotherapy (e.g., ACE inhibitor/diuretics/beta-blockers; specific drugs reported in pediatric series include captopril, furosemide, carvedilol, digoxin) (molho‐pessach2015twonovelhomozygous pages 3-5) - Antiarrhythmic therapy and rhythm monitoring (ziołkowska2024carvajalsyndromerelated pages 1-2) - ICD implantation for uncontrolled/high-risk ventricular arrhythmias (binfadel2025genotypeandcardiac pages 1-2, ziołkowska2024carvajalsyndromerelated pages 1-2) - Catheter ablation in selected arrhythmia cases (ziołkowska2024carvajalsyndromerelated pages 1-2) - Heart transplantation for end-stage disease (binfadel2025genotypeandcardiac pages 1-2, ziołkowska2024carvajalsyndromerelated pages 1-2, williams2011noveldesmoplakinmutation pages 2-5)

12.2 Suggested MAXO terms (examples)

12.3 Experimental / research landscape (clinical trials/registries)

While there are no Carvajal-specific interventional trials in the retrieved trial set, multiple 2022–2024 observational studies explicitly include DSP variant carriers and are therefore relevant for desmoplakin cardiomyopathy / Carvajal-related phenotypes:

1) Bio-SCOTCH registry (ClinicalTrials.gov NCT06446271; start 2024-06-26; recruiting; n=750; includes DSP arm up to ~50): biomarker discovery and natural history across genetic cardiomyopathies including DSP. URL: https://clinicaltrials.gov/study/NCT06446271 (NCT06446271 chunk 1)

2) CharACTPET-MR hybrid PET-MRI characterization in genetically diagnosed arrhythmogenic cardiomyopathy (ClinicalTrials.gov NCT05450783; start 2022-09-01; recruiting; n=80): evaluates PET-MR patterns, prognostic associations (death, transplant, resuscitated sudden death, unstable VT, HF hospitalization, myocarditis), and immune correlates; inclusion lists DSP among genotypes. URL: https://clinicaltrials.gov/study/NCT05450783 (NCT05450783 chunk 1)

3) Cardiomyocyte DNA aspiration feasibility study (ClinicalTrials.gov NCT03177018; start 2016-09-13; completed; n=34): feasibility of obtaining cardiomyocytes during voltage mapping for DNA extraction; includes DSP in molecular/epigenetic targets. URL: https://clinicaltrials.gov/study/NCT03177018 (NCT03177018 chunk 1)

13. Prevention

No primary prevention exists for the genetic cause. Evidence-supported preventive strategies are secondary/tertiary prevention through early detection and complication avoidance: - Cascade screening / genetic counseling for relatives, especially in settings with consanguinity. (binfadel2025genotypeandcardiac pages 1-2, williams2011noveldesmoplakinmutation pages 2-5) - Long-term cardiac monitoring in individuals with PPK + hair shaft anomalies due to high cardiac risk in systematic review data. (polivka2016combinationofpalmoplantar pages 2-3)

14. Other Species / Natural Disease

No naturally occurring non-human Carvajal syndrome analogs were identified in the retrieved evidence excerpts.

15. Model Organisms

No specific Carvajal-focused animal models were identified in the retrieved evidence excerpts. Mechanistic inference is nevertheless consistent with established desmosome biology in cardiomyocytes and keratinocytes (review-level). (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)

Recent Developments (prioritizing 2023–2024)

1) Conceptual consolidation of “desmoplakin cardiomyopathy” (2023): A comprehensive review describes DSP cardiomyopathy as increasingly recognized, characterized by frequent LV involvement, extensive fibrosis, high arrhythmic risk, and episodes of acute myocardial injury, while explicitly linking the historical first DSP-myocardial disease association to Carvajal syndrome. Publication date Apr 2023; URL: https://doi.org/10.3390/jcm12072660 (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)

2) Expanded genotype evidence with detailed contemporary management (2024 case): A 19-year-old with classic cutaneous findings and severe biventricular dysfunction had compound DSP variants and required ICD, antiarrhythmics, ablation, and ultimately transplantation, illustrating current real-world management pathways and genotype–phenotype expansion. Publication date Sep 2024; URL: https://doi.org/10.33963/v.phj.101664 (ziołkowska2024carvajalsyndromerelated pages 1-2, ziołkowska2024carvajalsyndromerelated media 9732cda8)

3) New DSP-focused observational infrastructure (2024): Bio-SCOTCH (NCT06446271) is a large prospective biomarker registry explicitly enrolling DSP variant carriers, representing a practical path to improved risk prediction and earlier intervention in DSP-related cardiomyopathies. Start date 2024-06-26; URL: https://clinicaltrials.gov/study/NCT06446271 (NCT06446271 chunk 1)

Expert opinion / consensus themes (authoritative sources in retrieved set)

Structured summary table

The following table condenses key disease facts for knowledge-base ingestion:

Table (click to expand)
Domain Key facts
Identifiers / synonyms Carvajal syndrome; OMIM 605656 / 605676 reported in the literature excerpts; often described as “Naxos disease variant” or a related cardiocutaneous syndrome; related comparator: Naxos disease OMIM 601214 (sun2021hairandskin pages 1-2, binfadel2025genotypeandcardiac pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2, binfadel2025genotypeandcardiac pages 9-9)
Primary evidence source type Evidence is mainly from aggregated disease reviews, case reports/series, and small retrospective cohorts rather than EHR-scale datasets; knowledge remains based on rare-patient observations (sun2021hairandskin pages 1-2, binfadel2025genotypeandcardiac pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)
Causal gene DSP (desmoplakin) is the principal causal gene for classic Carvajal syndrome; disease belongs to the desmosomal cardiocutaneous disorders (sun2021hairandskin pages 1-2, pigors2015desmoplakinmutationswith pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)
Variant types / molecular pattern Predominantly loss-of-function/truncating DSP variants, especially C-terminal changes in classic recessive disease; reported mechanisms include frameshift, nonsense, compound heterozygous, and homozygous truncating variants; some cases involve nonsense-mediated decay / haploinsufficiency (ziołkowska2024carvajalsyndromerelated pages 1-2, maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, williams2011noveldesmoplakinmutation pages 2-5, williams2011noveldesmoplakinmutation pages 1-2)
Inheritance Usually autosomal recessive in classic Carvajal syndrome, often in consanguineous families; dominant DSP cardiocutaneous phenotypes with overlapping “Carvajal-like” features are also reported (sun2021hairandskin pages 4-5, karvonen2022anoveldesmoplakin pages 8-8, maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, williams2011noveldesmoplakinmutation pages 1-2)
Hallmark phenotype triad Woolly/curly hair + palmoplantar keratoderma (often striate/focal) + cardiomyopathy; additional features may include poor dentition, nail changes, skin fragility, or ichthyosis depending on DSP variant location (sun2021hairandskin pages 1-2, sun2021hairandskin pages 4-5, molho‐pessach2015twonovelhomozygous pages 3-5)
Typical cardiac phenotype Classically left-ventricular–predominant dilated/arrhythmogenic cardiomyopathy; many patients show biventricular disease, myocardial fibrosis, heart failure, ventricular arrhythmias, and sometimes LV non-compaction features (sun2021hairandskin pages 4-5, molho‐pessach2015twonovelhomozygous pages 3-5, ziołkowska2024carvajalsyndromerelated pages 1-2, williams2011noveldesmoplakinmutation pages 2-5, williams2011noveldesmoplakinmutation pages 1-2)
Usual onset / course Hair changes are often congenital; keratoderma develops in infancy/toddler years; cardiac manifestations commonly begin in childhood and are often progressive, with reported median first cardiac manifestation around 8 years (range 3–35) (polivka2016combinationofpalmoplantar pages 2-3, williams2011noveldesmoplakinmutation pages 1-2)
Key statistics In a systematic review of desmosomal disease, the combination of PPK + hair shaft anomalies carried 80.1% risk of cardiac disease (129/161 patients) (source review summary). In a 10-patient Saudi pediatric Carvajal cohort: 100% woolly hair, 50% PPK, 9/10 frequent PVCs, 3/10 ICD, 4/10 heart transplant, 3/10 died while awaiting transplant (binfadel2025genotypeandcardiac pages 1-2, polivka2016combinationofpalmoplantar pages 2-3)
Pathophysiology DSP dysfunction impairs desmosome–intermediate filament anchoring, weakening mechanical coupling in myocardium and epidermis; downstream effects include desmosomal protein mislocalization, conduction abnormalities, fibrosis/fibrofatty replacement, and cardiomyopathy (sun2021hairandskin pages 1-2, maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2)
Diagnostic clues Early woolly hair and PPK should trigger cardiac workup; diagnosis integrates clinical triad, family history/consanguinity, and molecular confirmation of DSP variants (karvonen2022anoveldesmoplakin pages 8-8, williams2011noveldesmoplakinmutation pages 2-5, williams2011noveldesmoplakinmutation pages 1-2)
Cardiac diagnostics Typical evaluations include ECG, Holter, echocardiography, cardiac MRI (for fibrosis, ventricular function, LV/RV involvement), and sometimes biopsy/histology; asymptomatic DSP carriers may still warrant surveillance (binfadel2025genotypeandcardiac pages 1-2, karvonen2022anoveldesmoplakin pages 8-8, ziołkowska2024carvajalsyndromerelated pages 1-2)
Surveillance / prevention Long-term cardiac monitoring is recommended for patients with PPK + hair anomalies and for at-risk relatives; genetic counseling, cascade/family screening, and early specialist follow-up are emphasized (binfadel2025genotypeandcardiac pages 1-2, pigors2015desmoplakinmutationswith pages 1-2, maruthappu2019loss‐of‐functiondesmoplakini pages 7-11, williams2011noveldesmoplakinmutation pages 2-5)
Management options Standard heart-failure therapy, antiarrhythmics, ICD, catheter ablation, and heart transplantation for advanced disease; management is multidisciplinary (cardiology, dermatology, genetics) (sun2021hairandskin pages 4-5, molho‐pessach2015twonovelhomozygous pages 3-5, ziołkowska2024carvajalsyndromerelated pages 1-2)
Prognosis Potentially severe, with early heart failure, malignant ventricular arrhythmias, sudden cardiac death, and transplant need in childhood/adolescence; prognosis is variable but can be poor without early recognition and intervention (binfadel2025genotypeandcardiac pages 1-2, sun2021hairandskin pages 4-5, williams2011noveldesmoplakinmutation pages 1-2)

Table: This table condenses the core identifiers, genotype, phenotype, diagnostics, prognosis, and management points for Carvajal syndrome from the gathered evidence. It is useful as a quick-reference summary for a disease knowledge base entry.

Key direct abstract quotes (for knowledge base evidence)

Limitations of this report (evidence-bound)

  • Formal ICD/Orphanet/MeSH identifiers, population prevalence/incidence, and validated QoL metrics were not present in the retrieved excerpts and should be supplemented by targeted queries to OMIM/Orphanet/MeSH and epidemiology registries.
  • Model organism evidence and disease-specific epigenetic profiling were not identified in the current evidence set.

References

  1. (sun2021hairandskin pages 1-2): Qisi Sun, Lara Wine Lee, E Kevin Hall, Keith A. Choate, and Robert W. Elder. Hair and skin predict cardiomyopathies: carvajal and erythrokeratodermia cardiomyopathy syndromes. Pediatric Dermatology, 38:31-38, Dec 2021. URL: https://doi.org/10.1111/pde.14478, doi:10.1111/pde.14478. This article has 27 citations and is from a peer-reviewed journal.

  2. (sun2021hairandskin pages 4-5): Qisi Sun, Lara Wine Lee, E Kevin Hall, Keith A. Choate, and Robert W. Elder. Hair and skin predict cardiomyopathies: carvajal and erythrokeratodermia cardiomyopathy syndromes. Pediatric Dermatology, 38:31-38, Dec 2021. URL: https://doi.org/10.1111/pde.14478, doi:10.1111/pde.14478. This article has 27 citations and is from a peer-reviewed journal.

  3. (karvonen2022anoveldesmoplakin pages 8-8): V. Karvonen, L. Harjama, K. Heliö, K. Kettunen, O. Elomaa, J.W. Koskenvuo, J. Kere, S. Weckström, M. Holmström, J. Saarela, A. Ranki, T. Heliö, and K. Hannula‐Jouppi. A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign. Journal of the European Academy of Dermatology and Venereology, 36:1349-1358, May 2022. URL: https://doi.org/10.1111/jdv.18164, doi:10.1111/jdv.18164. This article has 11 citations and is from a domain leading peer-reviewed journal.

  4. (binfadel2025genotypeandcardiac pages 1-2): Maha Binfadel, Mohamed Umair Aleem, Mohammed Alhabdan, Nadiah Alruwaili, Zuhair AlHassnan, Olga Vriz, Sahar Tulbah, and Dimpna Calila Albert-Brotons. Genotype and cardiac outcome in patients with cardiocutaneous syndrome (naxos disease variant: carvajal syndrome). Orphanet Journal of Rare Diseases, Mar 2025. URL: https://doi.org/10.1186/s13023-025-03612-8, doi:10.1186/s13023-025-03612-8. This article has 1 citations and is from a peer-reviewed journal.

  5. (molho‐pessach2015twonovelhomozygous pages 5-6): Vered Molho‐Pessach, Sivan Sheffer, Rula Siam, Spiro Tams, Ihab Siam, Rula Awwad, Sofia Babay, Julius Golender, Natalia Simanovsky, Yuval Ramot, and Abraham Zlotogorski. Two novel homozygous desmoplakin mutations in carvajal syndrome. Pediatric Dermatology, 32:641-646, Sep 2015. URL: https://doi.org/10.1111/pde.12541, doi:10.1111/pde.12541. This article has 27 citations and is from a peer-reviewed journal.

  6. (polivka2016combinationofpalmoplantar pages 2-3): Laura Polivka, Christine Bodemer, and Smail Hadj-Rabia. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. Journal of Medical Genetics, 53:289-295, Sep 2016. URL: https://doi.org/10.1136/jmedgenet-2015-103403, doi:10.1136/jmedgenet-2015-103403. This article has 45 citations and is from a domain leading peer-reviewed journal.

  7. (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2): Mariana Brandão, Riccardo Bariani, Ilaria Rigato, and Barbara Bauce. Desmoplakin cardiomyopathy: comprehensive review of an increasingly recognized entity. Journal of Clinical Medicine, 12:2660, Apr 2023. URL: https://doi.org/10.3390/jcm12072660, doi:10.3390/jcm12072660. This article has 54 citations.

  8. (molho‐pessach2015twonovelhomozygous pages 3-5): Vered Molho‐Pessach, Sivan Sheffer, Rula Siam, Spiro Tams, Ihab Siam, Rula Awwad, Sofia Babay, Julius Golender, Natalia Simanovsky, Yuval Ramot, and Abraham Zlotogorski. Two novel homozygous desmoplakin mutations in carvajal syndrome. Pediatric Dermatology, 32:641-646, Sep 2015. URL: https://doi.org/10.1111/pde.12541, doi:10.1111/pde.12541. This article has 27 citations and is from a peer-reviewed journal.

  9. (ziołkowska2024carvajalsyndromerelated pages 1-2): Lidia Ziółkowska, Dorota Piekutowska-Abramczuk, Karolina Borowiec, Elżbieta Ciara, Maciej Sterliński, and Elżbieta Katarzyna Biernacka. Carvajal syndrome related to two distinct molecular variants in desmoplakin gene. Polish Heart Journal, 82:914-915, Sep 2024. URL: https://doi.org/10.33963/v.phj.101664, doi:10.33963/v.phj.101664. This article has 1 citations.

  10. (williams2011noveldesmoplakinmutation pages 2-5): Tatjana Williams, Wolfram Machann, Leif Kühler, Henning Hamm, Josef Müller-Höcker, Michael Zimmer, Georg Ertl, Oliver Ritter, Meinrad Beer, and Jost Schönberger. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. Clinical Research in Cardiology, 100:1087-1093, Jul 2011. URL: https://doi.org/10.1007/s00392-011-0345-9, doi:10.1007/s00392-011-0345-9. This article has 57 citations and is from a peer-reviewed journal.

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