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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

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0 Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1954

Abstract: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. read more here.

Keywords: autopsy clinical; cardiac death; sudden cardiac; molecular autopsy ... See more keywords

Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?

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1 Published in 2020 at "Legal medicine"

DOI: 10.1016/j.legalmed.2020.101712

Abstract: In many SCD cases, in particular in pediatric age, autopsy can be completely negative and then a post-mortem genetic testing (molecular autopsy) is indicated. In NGS era finding new/rare variants is extremely frequent and, when… read more here.

Keywords: death; cause death; uncertain significance; autopsy ... See more keywords

Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young

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0 Published in 2019 at "Genetics in Medicine"

DOI: 10.1038/s41436-018-0338-4

Abstract: PurposeSudden cardiac death (SCD) in the young is a devastating event occurring in otherwise healthy individuals. Postmortem genetic testing (molecular autopsy) may help identify a cause, though there is potential for uncertainty. We report psychological… read more here.

Keywords: cardiac death; autopsy findings; molecular autopsy; adaptation ... See more keywords

Sudden cardiac death due to ARVC in the young: molecular autopsy by whole exome sequencing of DNA from dried blood spots (DBS) collected at birth

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1 Published in 2021 at "Europace"

DOI: 10.1093/europace/euab116.002

Abstract: Type of funding sources: Public hospital(s). Main funding source(s): Uppsala University Hospital (ALF) and Marcus Börgström Foundation The post-mortem investigation of cases with sudden cardiac death (SCD) is critical for risk stratification and adequate care… read more here.

Keywords: dbs collected; blood; dna; molecular autopsy ... See more keywords

Molecular autopsy by proxy in preconception counseling.

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0 Published in 2021 at "Clinical genetics"

DOI: 10.1111/cge.14049

Abstract: Monogenic diseases that result in early pregnancy loss or neonatal death are genetically and phenotypically highly variable. This often poses significant challenges in arriving at a molecular diagnosis for reproductive planning. Molecular autopsy by proxy… read more here.

Keywords: death; preconception counseling; proxy preconception; molecular autopsy ... See more keywords

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction

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0 Published in 2021 at "Frontiers in Cardiovascular Medicine"

DOI: 10.3389/fcvm.2021.635141

Abstract: Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2,000 and 1:5,000 and is characterized by the fibrofatty replacement of cardiomyocytes that predisposes to malignant arrhythmias, heart failure, and sudden cardiac… read more here.

Keywords: death; family; pkp2; molecular autopsy ... See more keywords

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

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2 Published in 2023 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2023.1118585

Abstract: In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as… read more here.

Keywords: death; post mortem; inherited arrhythmogenic; molecular autopsy ... See more keywords

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era

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1 Published in 2021 at "Diagnostics"

DOI: 10.3390/diagnostics11081378

Abstract: Molecular autopsy is the process of investigating sudden death through genetic analysis. It is particularly useful in cases where traditional autopsy is negative or only shows non-diagnostic features, i.e., in sudden unexplained deaths (SUDs), which… read more here.

Keywords: sudden cardiac; autopsy; molecular autopsy; cardiac death ... See more keywords