Inherited cardiac muscle disease: Dilated cardiomyopathy

Eloisa Arbustini, Lorenzo Giuliani, Alessandro Di Toro, Valentina Favalli

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Dilated cardiomyopathy (DCM) is a chronic primary heart muscle disease defined by "the presence of unexplained dilatation and systolic impairment of the left or both ventricles". It represents the end-phenotype of heart muscle damage induced by different genetic (>100 known disease genes) and nongenetic causes (inflammatory, toxic, and immune-mediated). In familial genetic DCM, the most common inheritance is autosomal dominant irrespective of the possible complex genetics (> than one mutation) identifiable with the modern massive parallel sequencing of multi-gene panels. The precise diagnosis (identification of the cause) starts with clinical hypothesis that should be generated on the basis of deep phenotyping of the proband and relatives, clinical history and pathology investigations. Genetic tests in probands and cascade family screening in clinically phenotyped families provide the basis for segregation studies that are major contributors to the assignment of a causative role of mutations in families.

Original languageEnglish
Title of host publicationCardiovascular Genetics and Genomics
Subtitle of host publicationPrinciples and Clinical Practice
PublisherSpringer International Publishing AG
Pages319-366
Number of pages48
ISBN (Electronic)9783319661148
ISBN (Print)9783319661124
DOIs
Publication statusPublished - Jan 17 2018
Externally publishedYes

Keywords

  • Arrhythmogenic Mithocondrial
  • DCM clinical cases
  • Dystrophin
  • Familial
  • Genetic dilated cardiomyopathies
  • Mutation Lamin
  • Myopathy
  • Nebulette
  • Peripartum
  • Phospholamban

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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