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Most-often inherited disease of the myocardium resulting in cardiomyopathy and risk of sudden death in otherwise healthy young adults.

Arrhythmogenic Right Ventricular Cardiomyopathy; ARVC.

Rare. Predominance in males. Arrhythmogenic right ventricular dysplasia (ARVD) is estimated to account for up to 5% of unexpected sudden deaths in individuals younger than 65 years and 3 to 4% of sudden deaths occurring during sports. The prevalence is unknown, and estimates range from 1.5:1000 to 4.5:1000 in the general population.

Autosomal dominant, with mutations mapped to chromosome 14. However, depending on the gene/ chromosome involved, eight different types of ARVD have been described. Type 1 is the most common form. Autosomal recessive and sporadic forms have been described.

Abnormal development of the right ventricle results in fibrous and fatty deposits in the free wall of the right ventricular myocardium. The subepicardial and mediomural layers are predominately affected; the subendocardial area may be preserved. Uhl anomaly is a severe form of ARVD in which the myocardium is severely dysplastic and the epicardium and endocardium are closely applied, resulting in the so-called “parchment ventricle.” The left ventricle may be involved in severe forms. The interventricular septum usually is preserved. Two pathologic types of ARVD have been described.

  1. 1. The fibrofatty form is characterized by a mixture of fat and fibrous tissue, myocardial thinning, and atrophy of the myocytes. The degeneration typically affects a triangular area (so-called “triangle of dysplasia”), which comprises the right ventricular infundibulum, the lateral apical region, and the right ventricular outflow tract. In the majority of cases, the myocardium shows lymphocytic infiltrates, which may extend to left ventricular areas. Approximately half of patients show a right ventricular aneurysm at autopsy.

  2. 2. The second form is the fatty form, in which the right ventricular myocardium is replaced partly or almost entirely by adipose tissue. Lymphocytic infiltrates most often are missing, and left ventricular involvement is uncommon.

The main clinical consequences arising from these degenerative changes are various forms of arrhythmias caused by abnormalities in depolarization, repolarization, and conduction.

Based on ECG findings (e.g., T-wave inversion on right-sided chest leads, right bundle branch block at rest, and isolated QRS prolongation in leads V1-V3). One of the main findings on echocardiography is dilatation of the right ventricle. Fatty infiltration of the myocardium can often be seen. At a later stage, sacculations or aneurysms of the right ventricular free wall in combination with right ventricular thinning and wall-motion abnormalities can be found. Endomyocardial biopsy and MRI may be useful to confirm the diagnosis. Valvular heart disease, active myocarditis, metabolic cardiomyopathy, and coronary artery disease must be excluded. Based on the classification and the criteria of the European Society of Cardiology and the ISFC Working Group on Cardiomyopathies and Dysplasia, the diagnosis of ARVD is confirmed if two major criteria, or one major plus two minor criteria, ...

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