Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary...

Area of Science:

• Cardiovascular Genetics
• Inherited Cardiac Diseases

Background:

• Arrhythmogenic cardiomyopathy (ACM) is a primary inherited heart muscle disease.
• It is characterized by fibro-fatty replacement of the myocardium, leading to ventricular arrhythmias and sudden cardiac death, particularly in young, athletic individuals.
• Genetic factors play a significant role in ACM pathogenesis.

Observation:

• A case of severe biventricular ACM in a middle-aged male with a family history of premature deaths due to cardiomyopathy.
• The proband presented with significant cardiac dysfunction and arrhythmias.
• Diagnostic evaluation revealed a complex clinical picture consistent with advanced ACM.

Findings:

• Genetic analysis identified two novel mutations in the DES and DOLK genes in the proband.
• These mutations are implicated in the pathogenesis of arrhythmogenic cardiomyopathy.
• This finding expands the spectrum of known genetic variants associated with ACM.

Implications:

• This case underscores the importance of comprehensive genetic evaluation in families with a history of cardiomyopathy and sudden cardiac death.
• The identification of novel mutations highlights the ongoing need for research into the genetic underpinnings of ACM.
• Establishing dedicated cardiovascular genetics programs and population-specific genetic databases in developing countries is crucial for improved diagnosis and management of inherited heart diseases.