Evangelia Nyktari
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Evangelia Nyktari has a total of 13 co-authors. Here are the top co-authors by number of shared publications:
- Alexandros Tsoutsinos
Department of Paediatric Cardiology and Adult Congenital Heart Disease Onassis Cardiac Surgery Centre Athens Greece
1 shared publication - Aris Anastasakis
Onassis Cardiac Surgery Center, Athens, Greece, Greece
1 shared publication - Dimitrios Degiannis
Molecular Immunology Laboratory, Onassis Cardiac Surgery Center, Athens, Greece
1 shared publication - Efstathios Papatheodorou
St George's University of London, Cardiovascular and Cell Sciences Research Institute, London, United Kingdom
1 shared publication - Konstantinos Tsioufis
National and Kapodistrian University of Athens Hippocratio Hospital, Greece (K.T.).
1 shared publication - Malena P. Pantou
Molecular Immunopathology, Histocompatibility and Genetics Laboratory, Onassis Cardiac Surgery Center, Kallithea, Greece
1 shared publication
Latest Publications
- Open Access
Marfan Syndrome beyond Aortic Root—Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications
Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality. We present two cases demonstrating the phenotypical variation in patients with MFS and how CMR (Cardiovascular Magnetic Resonance) could serve as a “one stop shop” to retrieveS all the necessary information regarding aortic/vascular pathology as well as any potential underlying arrhythmogenic substrate or cardiomyopathic process.
Open AccessMarfan Syndrome beyond Aortic Root—Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications
Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality. We present two cases demonstrating the phenotypical variation in patients with MFS and how CMR (Cardiovascular Magnetic Resonance) could serve as a “one stop shop” to retrieveS all the necessary information regarding aortic/vascular pathology as well as any potential underlying arrhythmogenic substrate or cardiomyopathic process.
- Open Access
- 4 May 2023
- Published by Springer Nature in BMC Medical Genomics
- Vol. 16 (1) , 1-8
A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study
Background: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. Case presentation: Here we describe a female proband with a documented arrhythmogenic left ventricular cardiomyopathy and a syncopal episode at the age of 13, who was found homozygous for the novel DSP variant: NM_004415.4:c.8586delC, p.(Ser2863Hisfs*20) at the extreme C-terminal region of the protein, just 8 amino acids upstream the stop codon. She did not have any of the typical dermatological symptoms that characterize Carvajal syndrome. Her brother had died suddenly at the age of 18 during exercise and was found homozygous for the same variant at the post-mortem, while their parents were heterozygous. The region of origin of both parents was the same geographic area of Greece, but they were not aware of any common ancestor. Detailed clinical examination revealed that the mother displayed a mild arrhythmic phenotype, while the father was asymptomatic. Conclusion: These observations pinpoint to a significant functional role of the extreme C-terminal tail of the protein.
- 4 May 2023
- Published by Springer Nature in BMC Medical Genomics
- Vol. 16 (1) , 1-8
Open AccessA truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study
Background: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. Case presentation: Here we describe a female proband with a documented arrhythmogenic left ventricular cardiomyopathy and a syncopal episode at the age of 13, who was found homozygous for the novel DSP variant: NM_004415.4:c.8586delC, p.(Ser2863Hisfs*20) at the extreme C-terminal region of the protein, just 8 amino acids upstream the stop codon. She did not have any of the typical dermatological symptoms that characterize Carvajal syndrome. Her brother had died suddenly at the age of 18 during exercise and was found homozygous for the same variant at the post-mortem, while their parents were heterozygous. The region of origin of both parents was the same geographic area of Greece, but they were not aware of any common ancestor. Detailed clinical examination revealed that the mother displayed a mild arrhythmic phenotype, while the father was asymptomatic. Conclusion: These observations pinpoint to a significant functional role of the extreme C-terminal tail of the protein.