Τόμος 28 (2010) – Τεύχος 2 – Άρθρο 3 – Επιθεώρηση Κλινικής Φαρμακολογίας και Φαρμακοκινητικής-Ελληνική Έκδοση – Volume 28 (2010) – Issue 2 – Article 3 – Epitheorese Klinikes Farmakologias και Farmakokinetikes-Greek Edition

Τίτλος – Title

Μοριακή Βιολογία: Γενετική Ιδιοπαθούς Διατατικής Καρδιομυοπάθειας

Molecular Biology: Genetic Idiopathic Dilated Cardiomyopathy

Συγγραφέας – Author

Παναγιώτα Κυριάκου1, Χαραλαμπία Κυριάκου2

1Επιμελήτρια, Β΄ Παθολογική Κλινική, Αριστοτέλειο Πανεπιστήμιο, Θεσσαλονίκη, Ελλάς
2Αιματολόγος, MD, PhD, Northwick Park NHS Consultant, Royal Free NCLs Medical School

 

P. Kyriakou1, Ch. Kyriakou2

12nd Dept. of Cardioliology, Ippokrateion Clinic, Aristotle University, Thessaloniki, Hellas
2Consultant Haematologist, North West London NHS Trust, Royal Free and UCL Medical School, London, UK

Παραπομπή – Citation

Κυριάκου,Π., Κυριάκου,Χ. : Μοριακή Βιολογία: Γενετική Ιδιοπαθούς Διατατικής Καρδιομυοπάθειας, Επιθεώρηση Κλιν. Φαρμακολ. Φαρμακοκινητ. 28: 112-120 (2010)

Kyriakou,P., Kyriakou,Ch. : Molecular Biology: Genetic Idiopathic Dilated Cardiomyopathy, Epitheorese Klin. Farmakol. Farmakokinet. 28: 112-120 (2010)

Ημερομηνία Δημοσιευσης – Publication Date
1 Δεκεμβρίου 2010 – 2010-12-01
Γλώσσα Πλήρους Κειμένου –
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Ελληνικά – Greek

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Λέξεις κλειδιά – Keywords
Λοιποί Όροι – Other Terms

‘Αρθρο

Article

Περίληψη – Summary

Pure familial dilated cardiomyopathy accounts for 30-50% of all sporadic dilated cardiomyopathy cases. The illness is of genetically determined disturbances, with impressive genetic heterogeneity, concerning the mutations of genes encoding the cytoskeleton proteins, adherens junction proteins, proteins of ion channels (chanelopathies), nuclear envelope and nuclear lamina proteins, sarcomeric proteins and mitochondrial DNA. The phenotype is the one of dilated cardiomyopathy or conduction system disorders, with or without concomitant skeletal muscle disorders. The most frequent pattern of inheritance of these pathological gene mutations is of autosomal dominant, followed by autosomal recessive, matrilineal and X-linked transmissions. Taking into account that the mitochondrial are components of the ovocytes the transmission of mitochondrial cardiomyopathies are of maternal inheritance. The variable phenotypes of the described mutations, limit the role of the blurred genetic screening and its value on clinical applications. Therefore selecting patients who are likely to benefit from genetic analysis and genetic intervention is a rather chaotic issue. The diagnosis is difficult due to the variable phenotypes of the same gene mutation and requires a detailed and exhaustive-thorough medical family history to suspect the familial nature of the disease. Other additional obstacles are the overlapping among cardiomyopathies and the polymorphism of the same gene mutation expressed as either dilated or hypertrophic cardiomyopathy. In the present review, we include all the recently described genetic disorders, regarding gene mutations associated familial dilated cardiomyopathy. In addition, we review data regarding the inheritance types that dominate the genetics of familial dilated cardiomyopathy.

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