Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome)
Naxos disease variant is accompanied by high risk of arrhythmia and sudden cardiac deaths, so family members of proband need an extensive genetic workup for identification of gene carriers for counseling, especially in our Arab countries where consanguineous marriage is common. Moreover, hair and skin phenotypes in a child should alert for signs of cardiomyopathy manifestation.
Authors
- Sahar Tulbah (ORCID: https://orcid.org/0000-0002-3031-6669)
- Dimpna Calila Albert (ORCID: https://orcid.org/0000-0002-5101-6905)
- Maha Binfadel
- Olga Vriz (ORCID: https://orcid.org/0000-0001-8212-8646)
- Mohammed Alhabdan (ORCID: https://orcid.org/0000-0001-7261-6750)
- Nadiah Alruwaili (ORCID: https://orcid.org/0009-0009-7321-429X)
- Mohammed Abdul Aleem (ORCID: https://orcid.org/0000-0002-7544-6694)
- Zuhair Nasser Al-Hassnan (ORCID: https://orcid.org/0000-0002-7173-2044)
Institutions
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
- Azienda Unità Sanitaria Locale di Ferrara (IT)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-19
- DOI
- https://doi.org/10.1186/s13023-025-03612-8
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00