ICD-11 classes
11 Diseases of the circulatory system
Diseases of the myocardium or cardiac chambers
BC43 — Cardiomyopathy
BC43.6 — Arrhythmogenic ventricular cardiomyopathy
ICD-11 BC43.6 — Arrhythmogenic ventricular cardiomyopathy
Arrhythmogenic ventricular cardiomyopathy is a cardiomyopathy characterised by myocardial cell loss with partial or total replacement of right ventricular muscle by adipose and fibrous tissue, beginning subepicardially to become transmural in time, sparing the papillary muscles and trabeculae, and often associated with aneurysms particularly of the right ventricular outflow tract. There is progressive systolic impairment with ventricular dilation and marked propensity for ventricular arrhythmias of right, as well as left, ventricular origin. Classically a disease of the right ventricle, more recent evidence suggests left ventricular involvement to a varying extent in up to 75% of cases, as well as isolated left ventricular disease.Source: ISNPCHD and American Heart Association Scientific Statement 2019Additional information: Arrhythmogenic ventricular cardiomyopathy/dysplasia (AVC/D) is a heart muscle disease clinically characterised by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000 and is a major cause of sudden death in the young and in athletes. Classically a disease of the right ventricle, more recent evidence suggests left ventricular involvement to a varying extent in up to 75% of cases, as well as isolated left ventricular disease. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin (left bundle branch block pattern) but also of left ventricular origin (right bundle branch block pattern) when left ventricular disease present; right ventricular or biventricular pump failure, so severe as to require transplantation. The pathology consists of a genetically determined dystrophy of the right (or left) ventricular myocardium with fibro-fatty replacement which may lead to right ventricular aneurysms. The causative genes (ACTN2, DSC2, DSG2, DSP, JUP, TMEM43, LDB3, PKP2, RYR2, TGFB3) encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodelling. Familial occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been reported. Recessive variants associated with palmoplantar keratoderma and woolly hair (see these terms) have also been described. Classically clinical diagnosis depends on demonstrating functional and structural alterations of the right ventricle (echocardiography and magnetic resonance imaging), ECG depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dilated cardiomyopathy and sarcoidosis (see these terms). Management includes antiarrhythmic drugs, catheter ablation and implantable cardioverter-defibrillators (ICDs). Young age, family history of juvenile sudden death, QRS dispersion greater than or equal to 340 ms, T-wave inversion, left ventricular involvement, ventricular tachycardia, syncope and prior cardiac arrest are the major risk factors for an adverse prognosis.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.