Heterotaxy Syndrome and Primary Ciliary Dyskinesia Workup

Updated: Apr 10, 2017
  • Author: Alvin J Chin, MD; Chief Editor: Stuart Berger, MD  more...
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Laboratory Studies and Imaging Studies

Laboratory testing

A complete blood cell (CBC) count with peripheral smear to assess for Howell-Jolly bodies (evidence of impaired splenic function) as well as an arterial blood gas (ABG) assessment are indicated in patients with heterotaxy syndrome.

Imaging studies

The following imaging studies are indicated:

  • Chest roentgenography

  • Echocardiography

  • Upper gastrointestinal (GI) series to screen for malrotation (See the image below.)

    Malrotation of the gut. This upper gastrointestina Malrotation of the gut. This upper gastrointestinal (GI) barium study of the same heterotaxy patient as shown in the previous two images shows a right-sided stomach (St), opposite of the normal site. The duodenum heads to the left, the duodenal-jejunal junction is to the left of the spine (opposite to what would be expected for situs inversus totalis), and the jejunum (J) stays left-sided.
  • Magnetic resonance imaging (See images below.)

    Coronal magnetic resonance image (MRI) of the same Coronal magnetic resonance image (MRI) of the same patient as shown in the previous image. (A) Both superior vena cava (SVC)–to–pulmonary artery (PA) anastomoses can be seen. LCCA = left common carotid artery. (B) Three-dimensional surface rendering. RIA = right innominate artery. (C) Three-dimensional reconstruction of only the systemic venous pathway.
    Axial magnetic resonance image (MRI) of a case of Axial magnetic resonance image (MRI) of a case of heterotaxy with polysplenia. (A) The abdominal aorta (abd ao) is on the left side of the spine (S), as is the left-sided azygos (L Azy). Two right-sided spleens (spl) are visible. LHV = left hepatic vein; RHV = right hepatic vein. (B) A common atrioventricular valve (black unlabelled arrows) is markedly malaligned to the right ventricle (RV). A diminutive left atrium (LA) is represented by only an appendage. The patient had an extracardiac conduit (EC) type of Fontan operation. No fenestration is noted between the EC and the neo-left atrium (neoLA). (C) Because this patient had subaortic stenosis, a proximal pulmonary artery-to-ascending aortic anastomosis was performed early in life, along with augmentation of the aortic arch. The L Azy connects to the left superior vena cava (LSVC). LU DAo = left upper descending aorta; Prox = proximal. (D) The LSVC connected originally to the coronary sinus (CS) and then to the right atrium. Despite the fact that the LSVC has been disconnected from the heart and anastomosed end-to-side to the left pulmonary artery, the CS remains large. The narrowed left ventricular outflow tract (LVOT) is seen. Ao = aorta; PA = pulmonary root; RLL PV = right lower lobe pulmonary vein. (E) Because this patient had absence of the hepatic segment of the inferior vena cava, the left-sided SVC-to-left pulmonary artery (LPA) anastomosis is referred to a left-sided Kawashima (LK). The anastomosis of the right superior vena cava to the right pulmonary artery is a right-sided bidirectional Glenn (R BDG) shunt. (F) The left lower lobe pulmonary vein (LLL PV), as part of this patient's totally anomalous pulmonary venous connection, connects to the original right atrium, which is now the neoLA.
  • Liver-spleen scanning


Other Tests

Holter monitoring is indicated, especially in cases of left atrial appendage isomerism or polysplenia, because this subset has a high prevalence of sinus node dysfunction and atrioventricular block. Electrocardiography (ECG) is also indicated.

In addition, direct imaging of cilia obtained from nasal biopsy specimens and nasal nitric oxide measurement are both more sensitive than standard transmission electron microscopy (TEM) in detecting ciliary abnormalities. [30]

More than a quarter of the genes responsible for normal left-right patterning encode components of the cilium. Because respiratory complications following surgical palliation of heterotaxy patients are associated with ciliary dysfunction, [47] the suggestion has been made that presurgical evaluation of ciliary morphology and function could inform postoperative management. For example, owing to the fact that aggressive microbial diagnosis and antibiotic therapy is the standard of care for primary ciliary dyskinesia with respiratory infections, it would be sensible to extend that strategy to the heterotaxy population.