Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
Am J Med Genet A
; 179(3): 365-372, 2019 03.
Article
en En
| MEDLINE
| ID: mdl-30588760
ABSTRACT
MYH7-related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of familial hypertrophic CMs. MRDs may also present as skeletal myopathies, with or without CM. Since pathogenic MYH7 variants result in highly variable clinical phenotypes, from mild to fatal forms of cardiac and skeletal myopathies, genotype-phenotype correlations are not always apparent, and translation of the genetic findings to clinical practice can be complicated. Data on genotype-phenotype correlations can help facilitate more specific and personalized decisions on treatment strategies, surveillance, and genetic counseling. We present a series of six MRD pedigrees with rare genotypes, encompassing various clinical presentations and inheritance patterns. This study provides new insights into the spectrum of MRD that is directly translatable to clinical practice.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Cadenas Pesadas de Miosina
/
Miosinas Cardíacas
/
Estudios de Asociación Genética
/
Genotipo
/
Mutación
/
Cardiomiopatías
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Israel