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Condition report · Cardiovascular

Arrhythmogenic Cardiomyopathy (ARVC)

Inherited conditions in which heart muscle is gradually replaced by scar and fatty tissue, causing dangerous rhythm problems, usually caused by variants in genes that hold heart cells together. This report includes arrhythmogenic right ventricular cardiomyopathy (ARVC) and related forms with woolly hair and skin thickening, such as Naxos disease and Carvajal syndrome.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

What a diagnosis changes

A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

Genes analysed

Also known as

arrhythmogenic right ventricular dysplasia; arrhythmogenic RVD; ARVD; right ventricular dysplasia

Includes 18 related subtypes ↓
  • arrhythmogenic right ventricular dysplasia 1
  • arrhythmogenic right ventricular dysplasia 10
  • arrhythmogenic right ventricular dysplasia 11
  • arrhythmogenic right ventricular dysplasia 12
  • arrhythmogenic right ventricular dysplasia 13
  • arrhythmogenic right ventricular dysplasia 3
  • arrhythmogenic right ventricular dysplasia 4
  • arrhythmogenic right ventricular dysplasia 5
  • arrhythmogenic right ventricular dysplasia 6
  • arrhythmogenic right ventricular dysplasia 8
  • arrhythmogenic right ventricular dysplasia 9
  • arrhythmogenic right ventricular dysplasia, familial, 14
  • catecholaminergic polymorphic ventricular tachycardia 1
  • familial isolated arrhythmogenic right ventricular dysplasia
  • familial isolated arrhythmogenic ventricular dysplasia, biventricular form
  • familial isolated arrhythmogenic ventricular dysplasia, left dominant form
  • familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • Naxos disease
MONDO:0016587Orphanet 247MedGen 87618

Cardioectodermal Syndromes (Naxos Disease and Carvajal Syndrome)

A group of conditions caused by changes in JUP or DSP, including Naxos disease and Carvajal syndrome, that combine arrhythmogenic cardiomyopathy with woolly hair and thickened skin on the palms and soles.

What a diagnosis changes

Knowing about it supports regular heart monitoring and arrhythmia assessment.

Genes analysed

Also known as

cardio-ectodermal syndrome

Includes 2 related subtypes ↓
  • arrhythmogenic cardiomyopathy with wooly hair and keratoderma
  • Naxos disease
MONDO:0100080

Dilated Cardiomyopathy with Woolly Hair, Keratoderma and Tooth Agenesis

Autosomal dominant

A condition caused by changes in DSP that combines dilated cardiomyopathy with woolly hair, thickened skin on the palms and soles, and missing teeth.

What a diagnosis changes

Knowing about it supports regular heart monitoring and arrhythmia assessment.

Genes analysed

Also known as

DCWHKTA; dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis; EKC syndrome; erythrokeratodermia-cardiomyopathy syndrome

MONDO:0014355OMIM 615821Orphanet 476096MedGen 862830

Arrhythmogenic Cardiomyopathy with Variable Ectodermal Abnormalities

Autosomal recessive

A condition caused by changes in PPP1R13L that combines arrhythmogenic cardiomyopathy with variable hair, skin and tooth differences.

Genes analysed

MONDO:0957795OMIM 620519MedGen 1847702

Other cardiovascular conditions

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