What is arrhythmogenic right ventricular dysplasia?
Arrhythmogenic right ventricular dysplasia (ARVD, also known as arrhythmogenic right ventricular cardiomyopathy or ARVC) is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated
arrhythmias originating in the right ventricle.
ARVD is an important cause of ventricular arrhythmias in children and young adults. It is seen predominantly in males, and 30-50% of cases have a familial distribution. It is usually inherited in an autosomal dominant pattern, with variable expression. The penetrance is 20-35% in general, but significantly higher in Italy. Seven gene loci have been implicated in ARVD. However, about 50% of families that express ARVD that undergo genetic screening do not show linkage with any of the known chromosomal loci. It is unclear whether the pathogenesis varies with the different loci involved. A standard genetic screening test is not available.
Naxos disease is an autosomal recessive variant of ARVD, described initially on the Greek island of Naxos. There, the penetrance is >90%. It involves the gene that codes for plakoglobin (a protein that is involved in cellular adhesion), on chromosome 17p. Naxos disease is described as a triad of ARVD, palmoplantar keratosis, and wooly hair. The signs of Naxos disease are more severe than with autosomal dominant ARVD.
Up to 80% of individuals with ARVD present with syncope or sudden cardiac death. The remainder frequently present with palpitations or other symptoms due to right ventricular outflow tract (RVOT) tachycardia (a type of monomorphic ventricular tachycardia). Symptoms are usually exercise-related. In populations where hypertrophic cardiomyopathy is screened out prior to involvement in competitive athletics, it is a common cause of sudden cardiac death. The first clinical signs of ARVD are usually during adolescence. However, signs of ARVD have been demonstrated in infants.
More information on cardiomyopathy
What is cardiomyopathy? - Cardiomyopathy is an alteration in the function of the heart muscle. Cardiomyopathy is the deterioration of the cardiac muscle of the heart wall.
What're the symptoms of cardiomyopathy? - The symptoms of cardiomyopathy include fatigue, shortness of breath, fainting, leg swelling, and an enlarged and tender liver.
How is cardiomyopathy diagnosed? - Cardiomyopathy can be diagnosed by characteristic physical findings, electrocardiogram, echocardiogram, cardiac catheterization and radionuclide angiography.
What is dilated cardiomyopathy? - Dilated cardiomyopathy (DCM) is the commonest form of cardiomyopathy, and one of the leading indications for heart transplantation.
What causes dilated cardiomyopathy? - No exact cause can be found for cardiomyopathy. Up to 30% of cases of dilated cardiomyopathy can be linked to heavy drinking.
What're the symptoms of dilated cardiomyopathy? - Typical signs and symptoms of dilated cardiomyopathy include fatigue, weakness, shortness of breath, and swelling of the legs and feet.
What're the treatments for dilated cardiomyopathy? - Treatment for dilated cardiomyopathy is focused on relieving the symptoms and the extra load on the heart. Lifestyle changes, medicines, and surgery may be needed.
What is hypertrophic cardiomyopathy? - Hypertrophic cardiomyopathy (HCM) is the second most common type of cardiomyopathy and results in excessive thickening of the heart walls.
What causes hypertrophic cardiomyopathy? - Hypertrophic cardiomyopathy is caused by the mutation in one of a number of genes that encode for one of the sarcomere proteins.
What're the symptoms of hypertrophic cardiomyopathy? - Symptoms of hypertrophic cardiomyopathy include shortness of breath, chest pain (angina), palpitations, dizziness and fainting attacks.
What's the treatment for hypertrophic cardiomyopathy? - Treatment of hypertrophic cardiomyopathy is directed towards decreasing the left ventricular outflow tract gradient and to abort arrhythmias.
What's arrhythmogenic right ventricular dysplasia? - Arrhythmogenic right ventricular dysplasia (ARVD) is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.
What causes arrhythmogenic right ventricular dysplasia? - The cause of arrhythmogenic right ventricular dysplasia is largely unknown. Apoptosis appears to play a large role.
What's the treatment for arrhythmogenic right ventricular dysplasia? - Pharmacologic treatment of arrhythmogenic right ventricular dysplasia involves arrhythmia suppression and prevention of thrombus formation.
What is restrictive cardiomyopathy? - Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy. Restrictive cardiomyopathy can be caused by a number of diseases.
How restrictive cardiomyopathy is diagnosed? - The diagnosis of restrictive cardiomyopathy is usually based on a physical examination, echocardiography, and other tests as needed.
What's the treatment for restrictive cardiomyopathy? - There is no effective treatment for restrictive cardiomyopathy. Treatment of a causative disease may reduce or stop the damage to the heart.
How is cardiomyopathy treated? - Beta-blocker medicines, and calcium antagonist medicines are the mainstay of treatment for cardiomyopathy. Surgery may be indicated for hypertrophic cardiomyopathy.