TY - JOUR
T1 - Clinical diversity of MYH7-related cardiomyopathies
T2 - Insights into genotype–phenotype correlations
AU - Hershkovitz, Tova
AU - Kurolap, Alina
AU - Ruhrman-Shahar, Noa
AU - Monakier, Daniel
AU - DeChene, Elizabeth T.
AU - Peretz-Amit, Gabriela
AU - Funke, Birgit
AU - Zucker, Nili
AU - Hirsch, Rafael
AU - Tan, Wen Hann
AU - Baris Feldman, Hagit
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2019/3/1
Y1 - 2019/3/1
N2 - 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.
AB - 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.
KW - MYH7
KW - MYH7-related disease
KW - cardiomyopathy
KW - skeletal myopathy
UR - http://www.scopus.com/inward/record.url?scp=85059060698&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.61017
DO - 10.1002/ajmg.a.61017
M3 - Article
AN - SCOPUS:85059060698
VL - 179
SP - 365
EP - 372
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -