Inhoudsopgave
Is ARVD congenital?
ARVD may also be related to non-genetic causes such as congenital abnormalities (affecting the right ventricle), viral or inflammatory myocarditis.
Is arrhythmogenic right ventricular cardiomyopathy genetic?
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is a rare, genetic disorder that causes ventricular arrhythmias which can increase the chance of death in young individuals. ARVD/C causes the heart muscle of the right ventricle to be replaced by fat and fibrous scare tissue which can weaken the heart.
Is right ventricular cardiomyopathy hereditary?
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue . The condition is progressive and over time the right ventricle loses the ability to pump blood.
What causes arrhythmogenic right ventricular cardiomyopathy?
What causes ARVD/C? ARVD/C is caused by mutations in genes that encode desmosomal proteins. These proteins are involved with cell-to-cell adhesion. This important observation helps explain why ARVD/C is more common in athletes, and the delayed onset of the disease.
What is Naxos syndrome?
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos.
What is the life expectancy 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.
Can ARVC skip a generation?
Most often, ARVC is inherited in an autosomal dominant manner. This means that each child of a parent with ARVC has a 50% chance of inheriting the genetic mutation associated with the condition. The genetic mutation does not skip generations.
Is there a genetic test for ARVC?
Clinical genetic testing is commercially available. It is beneficial for first-degree family members of a person with ARVC to have genetic testing but only if there is a known genetic abnormality in the affected person.
How common is arrhythmogenic right ventricular cardiomyopathy?
ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder may be underdiagnosed because it can be difficult to detect in people with mild or no symptoms.
Are you born with ARVC?
ARVC is caused by an alteration in a gene that you were born with; it is not caused by anything you have done or not done (e.g. eaten certain foods, used a particular product etc). The changes in the heart muscle can cause two main problems.
How common is Barth Syndrome?
Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.
What is vohwinkel syndrome?
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood.
What is arrhythmogenic right ventricular cardiomyopathy?
Learn more Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart.
Can arrhythmogenic cardiomyopathy cause sudden death?
Arrhythmia and sudden death. The principal characteristic of arrhythmogenic cardiomyopathies is the tendency for ventricular arrhythmia and sudden death in the absence of overt ventricular dysfunction. The increased risk for sudden death in ARVC is thought to relate to sudden ventricular arrhythmias.
What is the average age of diagnosis for right ventricular dysplasia/cardiomyopathy (ARVD/C)?
The mean age at diagnosis is 31 years (±13; range: 4-64 years). Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes.
Does having more than one variant increase the risk of cardiomyopathy?
A second observation is that having more than one variant increases propensity to arrhythmias and progression to cardiomyopathy [Bao et al 2013, Rigato et al 2013, Bhonsale et al 2015, Groeneweg et al 2015]. It has also been suggested that PKP2pathogenic variants are more likely to be associated with ventricular tachycardia [Bao et al 2013].