Cardiomyopathy arrythmogenic right ventricular I42.80

Rare, well-defined cardiomyopathy clinically characterized by ventricular arrhythmias, abnormal cardiomyopathy with segmental thinning of the right ventricular muscles and fibrolipomatous degeneration of the ventricular muscles. The changes are mainly localized at the tip, influence and outflow tract of the right ventricle. A cardiomyopathy with corresponding dysfunction is found as a secondary condition.

m: w=6:1; 10-20% of all sudden cardiac deaths in young men are due to arrhythmogenic right ventricular cardiomyopathy (Felker GM et al. 2000; DD: hypertrophic cardiomyopathy). A cluster of the disease with mutations in the plakoglobin gene is found in Italy and in residents of the Greek island of Naxos (Naxos disease - Li GL et al. 2018).

Arrythmogenic right ventricular cardiomyopathy ARVD occurs both sporadically and (in 40% of cases) familially (autosomal dominant / recessive inheritance). Mutations in the genes for plakophilin-2, desmoplakine, desmoglein, desmocollin, plakoglobin (Naxos disease) and others.

Mostly in the 4th decade of life

Arrythmogenic right ventricular cardiomyopathy is characterized by dysrhythmias, especially ventricular arrhythmias or isolated extrasystoles in combination with a dilated hypokinetic right ventricle. The spectrum of disease ranges from minimal symptoms to sudden cardiac death, depending on the extent of the pathological changes.

X-ray thorax image: Cardiomegaly

ECG: Arrhythmias are of right ventricular character (image of the left femoral block). T waves in the ECG are typically negative in all chest wall leads, but are often positive in children. QRS complex broadened. The disease begins in children and adolescents with mild forms, but only develops into a full-blown disease in adolescent adults.

Echo: Localized or global dyskinesia of the right ventricle. In later stages also involvement of the left ventricle. Image of biventricular dilated cardiomyopathy.

MRI: Detection of fat deposits in the right ventricle (te Riele AS et al. 2014).

Pathological anatomical findings and biopsy: Myocardium partially or totally atrophied in the right ventricle, replacement by fibrous-lipomatous tissue. The subendocardial myocardium is the last affected by this fibrous atrophy. The left ventricle is partially involved in fibrolipomatosis type II.

Myositis

Uhl's disease: here the myocardium of the right ventricle is missing.

General measures: Physical protection, if possible no sport that is demanding on the circulation.

Treatment of heart failure according to guidelines. Thrombosis prophylaxis.

In case of progressive and severe heart failure, cardiac resynchronization therapy, implantable cardioverter defibrillator (ICD), repair of moderate to severe valve insufficiency. Ultima ratio: heart transplantation.

Without disease-adapted therapy measures, the 10-year mortality rate is 30%.

1. Eberli FR (2017) Cardiac dyspnea. In E. Battegay E (ed.) Differential diagnosis of internal diseases. Georg Thieme Publishing House, Stuttgart-New York S. 283-285
2. Felker GM et al (2000) Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. N Engl J Med 342):1077-1084.
3. Deliu RC et al (2017) Changes of desmin expression pattern in the myocardium of patients with alcoholic dilated cardiomyopathy. Rome J Morphol Embryol 58:1309-1315.
4. Li GL et al (2018) Naxos disease: from the origin to today. Orphanet J Rare Dis 13:74.https://www.ncbi.nlm.nih.gov/pubmed/29747658
5. Salman OF et al (2018) Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome. Front Cardiovasc Med 5:77.
6. te Riele AS et al (2014) Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update. J Cardiovasc Magn Reson 16:50.