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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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Related in: MedlinePlus

Schematic representation of the genomic organization of the LMNA gene and localization of most prevalent LMNA mutation hot spots. Exon 11 and part of exon 12 encode for lamin A (664 aminoacids) while the alternatively spliced part of exon 10 encodes for the lamin C (572 aminoacids) isoform.
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Figure 4: Schematic representation of the genomic organization of the LMNA gene and localization of most prevalent LMNA mutation hot spots. Exon 11 and part of exon 12 encode for lamin A (664 aminoacids) while the alternatively spliced part of exon 10 encodes for the lamin C (572 aminoacids) isoform.

Mentions: The LMNA gene encodes the two differentially spliced proteins lamin A and lamin C, the major components of the nuclear lamina, which localizes at the nucleoplasmic surface of the inner nuclear membrane as a meshwork structure (Figure 4) [23,24]. Lamin interacts directly with the chromatin and also with the integral proteins of the inner nuclear membrane, thereby playing a role in maintaining the structural integrity and spatial organization of other inner nuclear membrane. During the last years, clinically distinct disease phenotypes have been attributed to LMNA mutations-termed "laminopathies"-ranging from accelerated aging disorders to striated muscle diseases like muscular dystrophy and cardiomyopathy [24,25].


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

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

Schematic representation of the genomic organization of the LMNA gene and localization of most prevalent LMNA mutation hot spots. Exon 11 and part of exon 12 encode for lamin A (664 aminoacids) while the alternatively spliced part of exon 10 encodes for the lamin C (572 aminoacids) isoform.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 4: Schematic representation of the genomic organization of the LMNA gene and localization of most prevalent LMNA mutation hot spots. Exon 11 and part of exon 12 encode for lamin A (664 aminoacids) while the alternatively spliced part of exon 10 encodes for the lamin C (572 aminoacids) isoform.
Mentions: The LMNA gene encodes the two differentially spliced proteins lamin A and lamin C, the major components of the nuclear lamina, which localizes at the nucleoplasmic surface of the inner nuclear membrane as a meshwork structure (Figure 4) [23,24]. Lamin interacts directly with the chromatin and also with the integral proteins of the inner nuclear membrane, thereby playing a role in maintaining the structural integrity and spatial organization of other inner nuclear membrane. During the last years, clinically distinct disease phenotypes have been attributed to LMNA mutations-termed "laminopathies"-ranging from accelerated aging disorders to striated muscle diseases like muscular dystrophy and cardiomyopathy [24,25].

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