Severe familial dilated cardiomyopathy in a young adult due to a rare LMNA mutation: a case report.

ABSTRACT:

Background

Familial dilated cardiomyopathy prognosis and disease progression vary greatly depending upon the type of genetic mutation. Family history and genetic testing are paramount in developing the best treatment plan for a patient. However, with rare or novel mutations, the significance may be unknown. Regarding this, the following case report highlights the importance of vigilance and suspicion when treating a patient with a variant of unknown significance. Additionally, it shows the importance of thoroughly investigating the family history of cardiovascular disease.

Case summary

A 25-year-old Caucasian male was found to have a right bundle branch block and dilated cardiomyopathy upon presentation to the emergency department. Later testing showed that the dilated cardi

SUBMITTER: Belcher AM 

PROVIDER: S-EPMC11375576 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature