Person:
Asimaki, Angeliki

Profile Picture

Email Address

AA Acceptance Date

Birth Date

Research Projects

Organizational Units

Job Title

Last Name

Asimaki

First Name

Angeliki

Name

Asimaki, Angeliki

Filters

2011 - 20152

Settings

Author's Publications: search.filters.isAuthorOfPublication.ae84a55a-9f7d-49fb-8d76-9a098cea8bbd

Search Results

Now showing 1 - 2 of 2
  • Thumbnail Image
    Publication
    Cardiac sarcoidosis with severe involvement of the right ventricle: a case report
    (São Paulo, SP: Universidade de São Paulo, Hospital Universitário, 2015) Siqueira, Weverton César; da Cruz, Samuel Gonçalves; Asimaki, Angeliki; Saffitz, Jeffrey Ern; Moreira, Maria da Consolação Vieira; Brasileiro, Geraldo; Rocha, Luiz Otávio Savassi
    We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed. However, there was severe involvement of the right ventricle, with markedly reduced width of the muscular layer and extensive fibrofatty replacement, findings similar to the ones encountered in cases of arrhythmogenic right ventricular cardiomyopathy (ARVC). Confocal immunofluorescence analysis revealed a reduced signal for plakoglobin and desmoplakin at the cardiac intercalated disks. The immunoreactive signal for desmin showed the typical sarcomeric distribution but not a concentrated signal at the intercalated disks, a pattern previously seen in an 11-year-old girl with Carvajal syndrome bearing a C-terminal truncating mutation in the desmoplakin gene. This case illustrates the difficult and challenging work involved in performing a differential diagnosis among idiopathic dilated cardiomyopathy, isolated cardiac sarcoidosis, and ARVC, all of which are clinical entities known to masquerade as one another.
  • Thumbnail Image
    Publication
    Mechanistic Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Desmocollin-2 Mutations
    (Oxford University Press, 2011) Gehmlich, Katja; Syrris, Petros; Peskett, Emma; Evans, Alison; Ehler, Elisabeth; Asimaki, Angeliki; Anastasakis, Aris; Tsatsopoulou, Adalena; Vouliotis, Apostolos-Ilias; Stefanadis, Christodoulos; Protonotarios, Nikos; McKenna, William J.; Saffitz, Jeffrey
    Aims: Recent immunohistochemical studies observed the loss of plakoglobin (PG) from the intercalated disc (ID) as a hallmark of arrhythmogenic right ventricular cardiomyopathy (ARVC), suggesting a final common pathway for this disease. However, the underlying molecular processes are poorly understood. Methods and results: We have identified novel mutations in the desmosomal cadherin desmocollin 2 (DSC2 R203C, L229X, T275M, and G371fsX378). The two missense mutations (DSC2 R203C and T275M) have been functionally characterized, together with a previously reported frameshift variant (DSC2 A897fsX900), to examine their pathogenic potential towards PG's functions at the ID. The three mutant proteins were transiently expressed in various cellular systems and assayed for expression, processing, localization, and binding to other desmosomal components in comparison to wild-type DSC2a protein. The two missense mutations showed defects in proteolytic cleavage, a process which is required for the functional activation of mature cadherins. In both cases, this is thought to cause a reduction of functional DSC2 at the desmosomes in cardiac cells. In contrast, the frameshift variant was incorporated into cardiac desmosomes; however, it showed reduced binding to PG. Conclusion: Despite different modes of action, for all three variants, the reduced ability to provide a ligand for PG at the desmosomes was observed. This is in agreement with the reduced intensity of PG at these structures observed in ARVC patients.