Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction [PDF]
International Journal of Molecular Sciences, 2022 Genetic variants in gene-encoding proteins involved in cell-cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous syndrome. The cardiac phenotype is
Mathilde Vermeer, Luisa Marsili
exaly +5 more sources
Novel insights into cardiocutaneous syndromes [PDF]
, 2022 A cardiocutaneous syndrome is an overlapping term of rare, inherited and distinct clinical manifestations that affect both the skin and the heart. In the heart, this presents as cardiomyopathy, where the pump function is eventually affected. The skin particularly displays phenotypes like keratoderma, woolly hair and/or alopecia.
Vermeer, Mathilde
openaire +2 more sources
Hitherto unreported involvement pattern of Carvajal phenotype of cardiocutaneous syndrome: evaluation on cardiac MRI [PDF]
BMJ Case Reports, 2018 An 11-year-old boy, born out of a consanguineous marriage, was admitted with gradually progressive dyspnoea, and facial and abdominal swelling for the past 1 year. On physical examination, he had woolly hair and patchy keratosis over the palms and soles (figure 1A,B). Chest radiograph showed gross cardiomegaly (figure 1C).
Arun Sharma +2 more
exaly +5 more sources
Cardiac magnetic resonance imaging findings in primary arrhythmogenic left ventricular cardiomyopathy with cardiocutaneous phenotype—Carvajal syndrome [PDF]
HeartRhythm Case Reports, 2021 The current revised task force criteria for diagnosis of arrhythmogenic cardiomyopathy (ACM) includes only morphological criteria for right ventricle with no consideration for left ventricle criteria.1 However, accumulating evidence suggests increasing left ventricle involvement in ACM.
Mahi Ashwath, Emmanuel Akintoye
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Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome. [PDF]
Genes (Basel)The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: missense variants affecting dimerization and intermolecular interactions, and heterozygous substitutions ...
Wilke MVMB +6 more
europepmc +4 more sources
Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes [PDF]
Circulation Research, 2017 Rationale: Arrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP
Karmouch, Jennifer +9 more
core +9 more sources
NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes
Hellenic Journal of CardiologyThe NAXCARE (NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation) is a global initiative designed to collect, store, and analyze clinical outcomes data on patients with Naxos disease and related cardiocutaneous syndromes (CCS). This registry aims to fill the gaps in clinical knowledge, enhance treatment approaches, and improve ...
Adalena Tsatsopoulou +45 more
core +8 more sources
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. [PDF]
Cardiovasc Diagn Ther, 2016 Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation.
Islam AM, Rahman MT, Chowdhury AH.
europepmc +4 more sources
Structure and regulation of desmosomes in intercalated discs: Lessons from epithelia
Journal of Anatomy, Volume 242, Issue 1, Page 81-90, January 2023., 2023 Adrenergic agonists act via PKA‐dependent PG phosphorylation at S665, leading to enhanced translocation of DSG2 to the desmosomes or area composita of the ICD and thereby increasing cardiomyocyte adhesion. On the other hand adrenergic agonists, PKC activation by PMA ,p38MAPK inhibition by SB202190 and digitoxin enhanced cardiomyocyte adhesion, in an ...
Sunil Yeruva, Jens Waschke
wiley +1 more source
Journal of the European Academy of Dermatology and Venereology, Volume 36, Issue 8, Page 1349-1358, August 2022., 2022 Abstract Background PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP).
V. Karvonen +12 more
wiley +1 more source