What causes Naxos disease?
What causes Naxos disease?
In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure. Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease.
What is arrhythmogenic right ventricular dysplasia?
Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) is a rare familial disorder that may cause ventricular tachycardia and sudden cardiac death in young, apparently healthy individuals. The clinical hallmark of the disease is ventricular arrhythmias, arising predominantly from the right ventricle.
What are symptoms of ARVC?
When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen.
What are the symptoms of right heart failure?
What are the symptoms of right-sided heart failure?
- shortness of breath, especially when lying flat.
- coughing.
- dizziness.
- difficulty concentrating and confusion.
- fatigue and low energy.
- sudden weight gain.
- reduced appetite.
- upset stomach.
How long do people live with ARVC?
We concluded that ARVC at locus ARVD5 is a lethal, fully penetrant, sex-influenced morbid disorder. Median life expectancy was 41 years in affected males compared to 71 years in affected females (relative risk 6.8, 95% CI 1.3–10.9). Heart failure was a late manifestation in survivors.
Is ARVC hereditary?
Up to half of all cases of ARVC appear to run in families. Most familial cases of the disease have an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder.
