Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2018.08.2182
Abstract: Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or… read more here.
Keywords: muscle disorders; phenotypes hereditary; muscle; cardiac phenotypes ... See more keywords
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01186-z
Abstract: Background Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC.… read more here.
Keywords: variant allele; myh7 splicing; cardiac phenotypes; family ... See more keywords
Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13081493
Abstract: (1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the… read more here.
Keywords: different cardiac; microarray analysis; cardiac phenotypes; chromosomal microarray ... See more keywords