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Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

Colombo MG, Botto N, Vittorini S, Paradossi U, Andreassi MG - Cardiovasc Ultrasound (2008)

Bottom Line: Hypertrophic cardiomyopathy and about 50% of idiopathic dilatative cardiomyopathy are familial diseases, with an autosomal dominant pattern of inheritance.Some genotype-phenotype correlations can provide important information to target DNA analyses in specific genes.Genetic testing may clarify diagnosis and help the optimal treatment strategies for more malignant phenotypes.In addition, genetic screening of first-degree relatives can help early identification and diagnosis of individuals at greatest risk for developing cardiomyopathy, allowing to focus clinical resources on high-risk family members.This paper provides a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies.

View Article: PubMed Central - HTML - PubMed

Affiliation: Genetics Research Unit G, Monasterio Foundation, CNR-Regione Toscana, CNR Institute of Clinical Physiology, Massa, Italy. colombo@ifc.cnr.it

ABSTRACT
Genetic testing has become an increasingly important part of medical practice for heritable form of cardiomyopathies. Hypertrophic cardiomyopathy and about 50% of idiopathic dilatative cardiomyopathy are familial diseases, with an autosomal dominant pattern of inheritance.Some genotype-phenotype correlations can provide important information to target DNA analyses in specific genes. Genetic testing may clarify diagnosis and help the optimal treatment strategies for more malignant phenotypes. In addition, genetic screening of first-degree relatives can help early identification and diagnosis of individuals at greatest risk for developing cardiomyopathy, allowing to focus clinical resources on high-risk family members.This paper provides a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies.

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Single gene disorders or complex traits. A single rare mutation can fully account for a Mendelian disease; clinical variability can be, however, observed even for determined monogenic disease, and this variability may itself involve genetic factors, the so-called modifier genes. In contrast to monogenic traits, complex traits have many contributing genes and non-genetic influences.
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Figure 1: Single gene disorders or complex traits. A single rare mutation can fully account for a Mendelian disease; clinical variability can be, however, observed even for determined monogenic disease, and this variability may itself involve genetic factors, the so-called modifier genes. In contrast to monogenic traits, complex traits have many contributing genes and non-genetic influences.

Mentions: Diseases identified as "genetic" can be typically classified into two categories: Mendelian diseases and multifactorial diseases. Mendelian diseases or monogenic diseases are rare, and only one mutation in a given gene is responsible for inheritance of the disease in a given family. Genetic diseases, in the second group, occur more commonly in the population and are often recognized as "running in families" [5]. The genetic model underlying a multifactorial disease is often complex since it may be related to the interaction or additive effect of multiple genes as well as to the presence or absence of environmental factors (Figure 1). Congenital heart disease, coronary heart disease, venous thrombosis, and diabetes mellitus fall into this category.


Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

Colombo MG, Botto N, Vittorini S, Paradossi U, Andreassi MG - Cardiovasc Ultrasound (2008)

Single gene disorders or complex traits. A single rare mutation can fully account for a Mendelian disease; clinical variability can be, however, observed even for determined monogenic disease, and this variability may itself involve genetic factors, the so-called modifier genes. In contrast to monogenic traits, complex traits have many contributing genes and non-genetic influences.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2630295&req=5

Figure 1: Single gene disorders or complex traits. A single rare mutation can fully account for a Mendelian disease; clinical variability can be, however, observed even for determined monogenic disease, and this variability may itself involve genetic factors, the so-called modifier genes. In contrast to monogenic traits, complex traits have many contributing genes and non-genetic influences.
Mentions: Diseases identified as "genetic" can be typically classified into two categories: Mendelian diseases and multifactorial diseases. Mendelian diseases or monogenic diseases are rare, and only one mutation in a given gene is responsible for inheritance of the disease in a given family. Genetic diseases, in the second group, occur more commonly in the population and are often recognized as "running in families" [5]. The genetic model underlying a multifactorial disease is often complex since it may be related to the interaction or additive effect of multiple genes as well as to the presence or absence of environmental factors (Figure 1). Congenital heart disease, coronary heart disease, venous thrombosis, and diabetes mellitus fall into this category.

Bottom Line: Hypertrophic cardiomyopathy and about 50% of idiopathic dilatative cardiomyopathy are familial diseases, with an autosomal dominant pattern of inheritance.Some genotype-phenotype correlations can provide important information to target DNA analyses in specific genes.Genetic testing may clarify diagnosis and help the optimal treatment strategies for more malignant phenotypes.In addition, genetic screening of first-degree relatives can help early identification and diagnosis of individuals at greatest risk for developing cardiomyopathy, allowing to focus clinical resources on high-risk family members.This paper provides a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies.

View Article: PubMed Central - HTML - PubMed

Affiliation: Genetics Research Unit G, Monasterio Foundation, CNR-Regione Toscana, CNR Institute of Clinical Physiology, Massa, Italy. colombo@ifc.cnr.it

ABSTRACT
Genetic testing has become an increasingly important part of medical practice for heritable form of cardiomyopathies. Hypertrophic cardiomyopathy and about 50% of idiopathic dilatative cardiomyopathy are familial diseases, with an autosomal dominant pattern of inheritance.Some genotype-phenotype correlations can provide important information to target DNA analyses in specific genes. Genetic testing may clarify diagnosis and help the optimal treatment strategies for more malignant phenotypes. In addition, genetic screening of first-degree relatives can help early identification and diagnosis of individuals at greatest risk for developing cardiomyopathy, allowing to focus clinical resources on high-risk family members.This paper provides a concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies.

Show MeSH
Related in: MedlinePlus