Understanding, Diagnosing, and Using Genetic Testing for Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair (ARVD-11) is a rare, inherited condition that affects the heart and skin. This article aims to provide an understanding of this disease, its diagnosis, and the role of genetic testing in managing this condition.

What is Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, with Mild Palmoplantar Keratoderma and Woolly Hair?

ARVD-11 is a genetic disorder that primarily affects the heart. It is characterized by the progressive replacement of the heart muscle (myocardium) with fatty and fibrous tissue, particularly in the right ventricle. This replacement can lead to arrhythmias, heart failure, and sudden cardiac death. The disease is also associated with mild palmoplantar keratoderma, which is a thickening of the skin on the palms and soles, and woolly hair, which is a curly and coarse hair texture.

Diagnosing ARVD-11

Diagnosing ARVD-11 can be challenging due to its rarity and variability in symptoms. The diagnosis is typically based on a combination of clinical findings, family history, and specialized tests. These tests may include:

• Electrocardiogram (ECG): This test records the electrical activity of the heart and can detect abnormal heart rhythms.
• Echocardiogram: This imaging test uses sound waves to create a detailed picture of the heart and can help identify structural abnormalities.
• Cardiac magnetic resonance imaging (MRI): This test provides detailed images of the heart and can help identify the presence of fatty and fibrous tissue in the myocardium.
• Endomyocardial biopsy: In some cases, a small sample of heart tissue may be taken to examine under a microscope for signs of the disease.

Additionally, a thorough skin examination and hair analysis can help identify the presence of palmoplantar keratoderma and woolly hair, which are associated with ARVD-11.

Genetic Testing for ARVD-11

Genetic testing plays a crucial role in confirming the diagnosis of ARVD-11 and guiding treatment and management decisions. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.

Identifying the Causative Mutation

ARVD-11 is caused by mutations in the PKP2 gene, which provides instructions for making a protein called plakophilin-2. This protein is essential for the proper functioning of the heart muscle cells and maintaining the structure of the skin. Genetic testing can be performed to identify the specific PKP2 gene mutation responsible for the disease in an individual.

Carrier Testing and Prenatal Diagnosis

As ARVD-11 is an inherited condition, genetic testing can be helpful in identifying carriers of the mutated gene. Carrier testing can be offered to individuals with a family history of the disease or those from populations with a higher prevalence of the condition. Couples who are both carriers have a 25% chance of having a child affected by the disease. In such cases, prenatal diagnosis can be performed to determine if the fetus has inherited the mutated gene from both parents.

Guiding Treatment and Management

Genetic testing can also guide treatment and management decisions for individuals with ARVD-11. For example, those with a confirmed genetic diagnosis may require more frequent cardiac monitoring and follow-up to detect and manage arrhythmias. Additionally, knowing the specific mutation can help determine the risk of sudden cardiac death and inform decisions about the need for implantable cardioverter-defibrillator (ICD) placement.

Genetic Counseling

Genetic counseling is an essential aspect of the diagnostic process for ARVD-11. A genetic counselor can help individuals and families understand the results of genetic testing, the implications for themselves and their relatives, and the available treatment and management options. Genetic counseling can also provide emotional support and guidance for coping with the challenges of living with a rare genetic disorder.

In conclusion, understanding, diagnosing, and using genetic testing for ARVD-11 is crucial in managing this rare and potentially life-threatening condition. Genetic testing can confirm the diagnosis, identify carriers, guide treatment decisions, and provide valuable information for affected individuals and their families.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)