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Family History

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Genetic Cardiomyopathies

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Abstract

The clinical cardiologist who examines a case of cardiomyopathy (CMP) should systematically consider the possibility of a genetic origin of the disease. After the clinician has excluded other known causes of heart muscle disease (hypertension, ischemia, drugs such as anthracyclines that may damage the myocardium, myocarditis, etc.), the family history has a critical role in the determination of a genetic origin of the disease.

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Author information

Authors and Affiliations

  1. Cardiovascular Institute, University of Colorado, Aurora, Colorado, USA

    Luisa Mestroni

Authors
  1. Michele Moretti
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  2. Matthew R. G. Taylor
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  3. Marco Merlo
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  4. Luisa Mestroni
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Corresponding author

Correspondence to Luisa Mestroni .

Editor information

Editors and Affiliations

  1. Department and Postgraduate School of Cardiovascular Sciences, Ospedali Riuniti and University of Trieste, Italy

    Gianfranco Sinagra MD, FESC (Professor of Cardiology Chief of Cardiovascular) (Professor of Cardiology Chief of Cardiovascular)

  2. Cardiovascular Institute, University of Colorado Denver Anschutz, Medical Campus, Aurora, USA

    Luisa Mestroni MD, FACC, FESC (Professor of Cardiology Director Molecular Genetics) (Professor of Cardiology Director Molecular Genetics)

  3. Ospedali Riuniti and University of Trieste, Italy

    Fulvio Camerini MD, EFESC (Professor of Cardiology) (Professor of Cardiology)

Glossary

Allele:

one of the two copies of a gene. Autosome: non-sex chromosome (22 pairs). Carrier: heterozygous individual.

Dominant:

a trait which is expressed when a single mutant allele is present.

Hemizygosity:

presence of only one allele of the gene, in the sex chromosomes (x and y).

Heterozygosity:

presence of two different alleles of the gene.

Homozygosity:

presence of two identical alleles of the gene.

Lyonization:

inactivation on one of the two X chromosomes in females.

Penetrance:

proportion of individuals who carry a particular gene mutation and also express the phenotype.

Proband:

first affected family member who seeks medical attention for a genetic disorder.

Recessive:

a trait that can be expressed only when both alleles are mutated.

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© 2013 Springer-Verlag Italia

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Moretti, M., Taylor, M.R.G., Merlo, M., Mestroni, L. (2013). Family History. In: Sinagra, G., Mestroni, L., Camerini, F. (eds) Genetic Cardiomyopathies. Springer, Milano. https://doi.org/10.1007/978-88-470-2757-2_2

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  • DOI: https://doi.org/10.1007/978-88-470-2757-2_2

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-2756-5

  • Online ISBN: 978-88-470-2757-2

  • eBook Packages: MedicineMedicine (R0)

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