Heterotaxy Syndrome and Primary Ciliary Dyskinesia Workup
- Author: Alvin J Chin, MD; Chief Editor: Stuart Berger, MD more...
A CBC count with peripheral smear to assess for Howell-Jolly bodies (evidence of impaired splenic function) and ABG assessment is indicated in patients with heterotaxy syndrome.
The following imaging studies are indicated:
Upper GI to screen for malrotation (See image below.)Malrotation of the gut. This upper GI barium study of the heterotaxy patient shown in media files 4 and 5 shows a right-sided stomach (St), opposite of normal. 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.
MRI (See images below.)Coronal MRI of the patient shown in media file 4. (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 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.
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. ECG is also indicated.
In addition, direct imaging of cilia obtained from nasal biopsy and nasal nitric oxide measurement are both more sensitive than standard transmission electron microscopy in detecting ciliary abnormalities.
More than a quarter of the genes responsible for normal left-right patterning encode components of the cilium. Since respiratory complications following surgical palliation of heterotaxy patients are associated with ciliary dysfunction, the suggestion has been made that presurgical evaluation of ciliary morphology and function could inform postoperative management. For example, since aggressive microbial diagnosis and antibiotic therapy is the standard of care for PCD with respiratory infections, it would be sensible to extend that strategy to the heterotaxy population.
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