Abstract
Identification of a LMNA (c.646C>T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM.
Highlights
Dilated cardiomyopathy (DCM) is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1]
The variants within the whole-exome sequencing of the two affected members (II:5 and II:11) and the DCM-related variants[2] were identified as suspected pathogenetic mutations
Two variants were found within the two samples and the DCM-related genes[2]
Summary
Dilated cardiomyopathy (DCM) is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1]. II13 (male, 67 years old) has been suffering from refractory heart failure since 2003. In 2011, his condition deteriorated and he died suddenly. III7, female, died suddenly at the age of 39 years after being awakened by telephone ringing.
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call