Which condition is associated with arrythmogenic right ventricular cardiomyopathy (ARVC)?

Which condition is associated with arrythmogenic right ventricular cardiomyopathy (ARVC)?

• A. Defective desmosomes
• B. Excess skin on the neck
• C. Uric acid overproduction
• D. High levels of organic acids

Answer: (A)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is primarily associated with defects in desmosomal proteins, which are crucial for cell adhesion in cardiac tissue. Specifically, mutations in genes associated with desmosomes, such as PKP2 (plakophilin-2), DSG2 (desmoglein-2), and other related genes, lead to the degeneration of cardiac myocytes and fibro-fatty replacement of the right ventricular myocardium. This dysfunctional adhesion can cause arrhythmias and a range of cardiac issues, which are characteristic of ARVC. The other options do not pertain to ARVC. Excess skin on the neck is more commonly associated with conditions like Turner syndrome or Klippel-Feil syndrome. Uric acid overproduction is linked to gout and conditions such as tumor lysis syndrome, while high levels of organic acids may relate to metabolic disorders but are not a defining feature of ARVC. Thus, the connection between defective desmosomes and ARVC is well-established in medical genetics and cardiology.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is primarily associated with defects in desmosomal proteins, which are crucial for cell adhesion in cardiac tissue. Specifically, mutations in genes associated with desmosomes, such as PKP2 (plakophilin-2), DSG2 (desmoglein-2), and other related genes, lead to the degeneration of cardiac myocytes and fibro-fatty replacement of the right ventricular myocardium. This dysfunctional adhesion can cause arrhythmias and a range of cardiac issues, which are characteristic of ARVC.

The other options do not pertain to ARVC. Excess skin on the neck is more commonly associated with conditions like Turner syndrome or Klippel-Feil syndrome. Uric acid overproduction is linked to gout and conditions such as tumor lysis syndrome, while high levels of organic acids may relate to metabolic disorders but are not a defining feature of ARVC. Thus, the connection between defective desmosomes and ARVC is well-established in medical genetics and cardiology.