Phospholamban Cardiomyopathy Leading to Advanced Heart Failure in an Active Duty Service Member

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Dilated cardiomyopathy (DCM) is a severe heart condition.
• Genetic mutations, such as in phospholamban, are rare causes of DCM.
• Familial DCM can present in young individuals.

Purpose of the Study:

• To report a case of a young service member with familial DCM.
• To emphasize the role of phospholamban mutations in DCM.
• To highlight the need for genetic screening and updated military medical standards.

Main Methods:

• Case report of a young service member.
• Clinical presentation and diagnostic workup for advanced heart failure.
• Identification of an autosomal dominant phospholamban mutation.

Main Results:

• The patient presented with advanced heart failure due to familial DCM.
• An autosomal dominant phospholamban mutation was identified as the cause.
• Successful heart transplantation was performed 23 days after presentation.

Conclusions:

• Phospholamban mutations are a significant, albeit rare, cause of DCM.
• Genetic screening and surveillance are vital for families with a history of DCM.
• Current military accession medical standards may need revision to include genetic screening for conditions like DCM.