Right isomerism

What it is

A form of heterotaxy characterized by both atrial appendages having the morphology of a right atrial appendage, often associated with two morphologically right lungs and/or bronchi, and asplenia. Associated cardiovascular defects are frequent, including dextrocardia or mesocardia, common atrioventricular junction (atrioventricular septal defect), ventricular hypoplasia in half of cases, anomalous ventriculo-arterial connections (malposition or transposition of the great arteries), anomalous systemic and pulmonary venous connections (total anomalous pulmonary venous return), absent coronary sinus, and frequent subpulmonary stenosis. Cardiac arrhythmias are frequently observed. Typical extracardiac anomalies are midline liver, intestinal malrotation.

Key facts

Prevalence

1-5 / 10 000 (at birth, France)

Age of onset

Neonatal

Inheritance

Autosomal recessive

Classified as

Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references