Literature DB >> 19931342

Cardiomyopathies--misdiagnosed as Sudden Infant Death Syndrome (SIDS).

R B Dettmeyer1, R Kandolf.   

Abstract

Cardiomyopathies are an important and heterogenous group of diseases. With the identification of several new disease entities over the past decade, advances in diagnosis and precise causation, some disease definitions have become outdated. The past decade has witnessed a rapid evolution of molecular genetics in cardiology, e.g. myocardial diseases (Hypertrophic cardiomyopathy-HCM, Arrhythmogenic right ventricular cardiomyopathy-ARVCM) and channelopathies (Long QT syndrome-LQTS, Brugada syndrome-BrS, Catecholaminergic Polymorphic Ventricular Tachycardia-CPVT and Short QT syndrome-SQTS) as diseases predisposing to potentially lethal ventricular tachyarrhythmias. Beside the detection of mutations in several genes, histological and immunohistochemical findings can point to a cardiomyopathy as underlying disease. Therefore, previous microscopical investigations of different parts of the myocardium can help to select those cases of suspected Sudden Infant Death Syndrome (SIDS), where a search for genetic mutations can lead to a diagnosis explaining the sudden and unexpected death. 2009 Elsevier Ireland Ltd. All rights reserved.

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Year:  2010        PMID: 19931342     DOI: 10.1016/j.forsciint.2009.10.010

Source DB:  PubMed          Journal:  Forensic Sci Int        ISSN: 0379-0738            Impact factor:   2.395


  5 in total

1.  Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices.

Authors:  Katarzyna Michaud; Patrice Mangin; Bernice S Elger
Journal:  Int J Legal Med       Date:  2010-06-11       Impact factor: 2.686

2.  Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Authors:  Ellika Sahlin; Anna Gréen; Peter Gustavsson; Agne Liedén; Magnus Nordenskjöld; Nikos Papadogiannakis; Karin Pettersson; Daniel Nilsson; Jon Jonasson; Erik Iwarsson
Journal:  PLoS One       Date:  2019-01-07       Impact factor: 3.240

3.  Cardiac ion channelopathies and the sudden infant death syndrome.

Authors:  Ronald Wilders
Journal:  ISRN Cardiol       Date:  2012-12-05

Review 4.  Genetic Factors Underlying Sudden Infant Death Syndrome.

Authors:  Christine Keywan; Annapurna H Poduri; Richard D Goldstein; Ingrid A Holm
Journal:  Appl Clin Genet       Date:  2021-02-15

5.  Accurate interpretation of genetic variants in sudden unexpected death in infancy by trio-targeted gene-sequencing panel analysis.

Authors:  Keita Shingu; Takehiko Murase; Takuma Yamamoto; Yuki Abe; Yoriko Shinba; Masahide Mitsuma; Takahiro Umehara; Hiromi Yamashita; Kazuya Ikematsu
Journal:  Sci Rep       Date:  2021-11-02       Impact factor: 4.379

  5 in total

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