Background. Hypertrophic cardiomyopathy (HCM) is one of the cause of sudden cardiac death and it is characterized by phenotypic and genotypic heterogeneity. The majority of HCM is caused by mutations in genes encoding components of the cardiac tissue. MYH7 (encoding beta-myosin heavy chain), TNNT2 (encoding cardiac Troponin T) and TNNI3 (encoding cardiac Troponin I) genes account for 25% to 35% of all the above mentioned mutations and they are easily investigated together by using Sanger Method of DNA sequencing. Materials and methods. The authors focus on the DNA sequence of those genes starting from different frozen tissues collected during forensic autopsies performed in a 5-year period (2011-2015) at the University of Genova, Italy. The analysis involved 9 cases of sudden cardiac death under macroscopically and histologically presenting as HCM. Discussion. The presented retrospective study allowed the authors to validate a method of DNA extraction and sequencing from different frozen samples – collected in a wide range of years – which could be applicable also in small forensic centres thanks to the limited cost. As a matter of fact, being able to reach a certain post-mortem diagnosis of HCM is a crucial step to perform a proper counselling between the deceased’s family.

The role of genetic testing in cardiac deaths under suspicion of hypertrophic cardiomyopathy: Validating a low-cost method and presenting preliminary data of an Italian retrospective study

Tettamanti, Camilla;Bonsignore, Alessandro;Verdiani, Simonetta;Casarino, Lucia;De Stefano, Francesco;Ventura, Francesco
2017

Abstract

Background. Hypertrophic cardiomyopathy (HCM) is one of the cause of sudden cardiac death and it is characterized by phenotypic and genotypic heterogeneity. The majority of HCM is caused by mutations in genes encoding components of the cardiac tissue. MYH7 (encoding beta-myosin heavy chain), TNNT2 (encoding cardiac Troponin T) and TNNI3 (encoding cardiac Troponin I) genes account for 25% to 35% of all the above mentioned mutations and they are easily investigated together by using Sanger Method of DNA sequencing. Materials and methods. The authors focus on the DNA sequence of those genes starting from different frozen tissues collected during forensic autopsies performed in a 5-year period (2011-2015) at the University of Genova, Italy. The analysis involved 9 cases of sudden cardiac death under macroscopically and histologically presenting as HCM. Discussion. The presented retrospective study allowed the authors to validate a method of DNA extraction and sequencing from different frozen samples – collected in a wide range of years – which could be applicable also in small forensic centres thanks to the limited cost. As a matter of fact, being able to reach a certain post-mortem diagnosis of HCM is a crucial step to perform a proper counselling between the deceased’s family.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/887957
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