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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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Flow chart showing the clinical management and the genetic counselling for the heritable cardiomyopathies by a specialised cardiogenetic team.
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Figure 5: Flow chart showing the clinical management and the genetic counselling for the heritable cardiomyopathies by a specialised cardiogenetic team.

Mentions: Indeed, the LMNA gene is involved in up to 30–50% of patients with cardiac conduction disorders and DCM [25-32]. Although mutations causing DCM can occur almost anywhere in LMNA, the domain coil 1B seems to be most frequently affected (Figure 5).


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

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

Flow chart showing the clinical management and the genetic counselling for the heritable cardiomyopathies by a specialised cardiogenetic team.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 5: Flow chart showing the clinical management and the genetic counselling for the heritable cardiomyopathies by a specialised cardiogenetic team.
Mentions: Indeed, the LMNA gene is involved in up to 30–50% of patients with cardiac conduction disorders and DCM [25-32]. Although mutations causing DCM can occur almost anywhere in LMNA, the domain coil 1B seems to be most frequently affected (Figure 5).

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