Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.
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.
Colombo
Maria Giovanna
MG
Genetics Research Unit G, Monasterio Foundation, CNR-Regione Toscana, CNR Institute of Clinical Physiology, Massa, Italy. colombo@ifc.cnr.it
Botto
Nicoletta
N
Vittorini
Simona
S
Paradossi
Umberto
U
Andreassi
Maria Grazia
MG
D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity