Diagnostic Criteria for Heterotaxy

Reference: Lin AE, Krikov S, Riehle-Colarusso T, Frías JL, Belmont J, Anderka M, Geva T, Getz KD, Botto LD; National Birth Defects Prevention Study. Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct;164A(10):2581-91. doi: 10.1002/ajmg.a.36695. Epub 2014 Aug 6. PMID: 25099286; PMCID: PMC4462240.

Diagnosis of Heterotaxy requires at least 3 of the 8 listed features:

1

Characteristic congenital heart defect

• —Pulmonary venous anomalies (TAPVR, PAPVR)

• —Atrial anomalies (atrial situs ambiguus or inversus, common atrium)

• —Common atrioventricular canal (or septal) defects

• —Ventricular abnormalities (hypoplastic or single left/right ventricle, ventricular malposition)

• —Ventriculo arterial alignment abnormalities (DORV, D-loop TGA, L-loop TGA, truncus arteriosus, TOF)

• —Ventricular outflow abnormalities (subvalvar/valvar PS, PA with intact ventricular septum, coarctation of the aorta)

2

Biliary atresia

3

Abdominal situs abnormality

• —Abdominal situs inversus

• —Midline or transverse liver

• —Midline aorta

• —Ipsilateral aorta and IVC

4

Spleen abnormality

• —Asplenia

• —Polysplenia

• —Single right-sided spleen

5

Isomerism of bronchi

• —Bilateral left bronchial morphology (bilateral hyparterial bronchus)

• —Bilateral right bronchial morphology (bilateral eparterial bronchus)

6

Isomerism of lungs

• —Bilateral two lobes (left-sidedness)

• —Bilateral three lobes (right-sidedness)

7

Similar morphology of atrial appendages ("atrial isomerism")

8

Two of the following

• —A systemic venous anomaly (Bilateral SVC, Interrupted IVC, Unroofed/absent coronary sinus)

• —Intestinal malrotation (nonrotation, incomplete rotation, reverse rotation)

• —Absent gallbladder