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

• DOI: 10.3389/fcvm.2023.1130903
• Publication Date: 2023-03-15T05:39:57Z
• Authors: Krista Heliö; Eveliina Brandt; Satu Vaara; Sini Weckström; Liisa Harjama; Riina Kandolin; Johanna Järviö; Katariina Hannula...; Tiina Heliö; Miia Holmström; Juha W. Koskenvuo
• Keywords: Palmoplantar keratoderma; Keratoderma

Background Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated curly or wavy hair, palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated cardiomyopathy might be confused clinical work myocarditis other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help differential diagnosis. Methods results This study comprised 49 Finnish patients: 34 participants from families suspected (9 index patients 25 family members) 15 myocarditis. All underwent genetic testing evaluation, 29 them also CMR. Participants the variant, numbering 22, were dermatologically examined. The CMR evaluated during their hospitalization. A heterozygous truncating c.6310delA p.(Thr2104Glnfs*12) variant was confirmed participants. Only had pacemakers life-threatening arrhythmias. Of 24% fulfilled criteria, median age at diagnosis 53. Upon CMR, edema found to more common Both groups a substantial percentage late gadolinium enhancement (LGE). ring-like LGE increased trabeculation observed only variant. studied PPK hair. Hyperkeratosis developed before 20 most patients. Conclusions associates PPK, trabeculation. Cutaneous symptoms developing childhood adolescence recognize these an earlier stage. together dermatologic characteristics,