Severe conduction block and cardiomyopathy associated with desminopathy

Area of Science:

• Genetics
• Cardiology
• Neurology

Background:

• Desminopathy is a rare genetic disorder affecting cardiac and skeletal muscles.
• It is caused by variants in the DES gene, encoding the desmin protein.
• Childhood-onset desminopathy often leads to severe myopathy and mortality.

Purpose of the Study:

• To report a case of desminopathy presenting with cardiac symptoms but no skeletal muscle involvement.
• To identify the genetic cause of the observed cardiac condition in an 11-year-old girl.

Main Methods:

• Clinical evaluation focusing on cardiac and skeletal muscle function.
• Genetic analysis to identify variants in the DES gene.

Main Results:

• The patient presented with complete atrioventricular block and cardiomyopathy.
• No skeletal muscle involvement was detected.
• A de novo variant (c.152C > T/p.Ser51Phe) in the DES gene was identified.

Conclusions:

• Desminopathy can present with isolated cardiac manifestations, particularly in childhood.
• The identified de novo DES gene variant is associated with severe cardiac phenotype.
• This case expands the clinical spectrum of desmin-related cardiomyopathies.