The Turkish Journal of Pediatrics 2007; 49: 444-447 Axenfeld-Rieger syndrome associated with truncus arteriosus:
a case report

Özlem Gürbüz-Köz1, Tuba Atalay1, Cem Köz2, Hatice Ilgın Ruhi3Alper Yarangümeli1, Gülcan Kural111st Eye Clinic, Ankara Numune Training and Research Hospital, 2Department of Cardiology, Gülhane Military Academy of Medicine, and 3Department of Medical Genetics, Ankara University Faculty of Medicine, Ankara, Turkey SUMMARY: Gürbüz-Köz Ö, Atalay T, Köz C, Ilgın-Ruhi H, Yarangümeli A,
Kural G. Axenfeld-Rieger syndrome associated with truncus arteriosus: a case
report. Turk J Pediatr 2007; 49: 444-447.

The aim of this presentation was to report a case with Axenfeld-Rieger
syndrome (ARS) associated with truncus arteriosus (TA). We present
a 14-year-old boy with ARS in whom the diagnosis was confirmed by
ophthalmologic examination and developmental defects of the teeth and
facial bones. Echocardiography revealed TA. With this case demonstrating the
association between ARS and TA, the range of reported cardiac malformations
is enlarged and the importance of cardiologic evaluation is emphasized in
patients with ARS.

Key words: Axenfeld-Rieger syndrome, truncus arteriosus.
Axenfeld-Rieger syndrome (ARS) is a clinically In ARS, classical signs represented by dental and genetically heterogeneous disorder with hypoplasia, craniofacial anomalies, and involuted an autosomal dominant mode of transmission periumbilical skin can be associated with a wide and great intrafamilial variability, consisting of diversity of other traits, such as limb anomalies, a family of developmental diseases including short stature, pituitary anomalies, empty sella anterior segment abnormalities and a variety syndrome, and a variety of neurological and Axenfeld-Rieger syndrome can be classified Among the associated extraocular features, as Axenfeld anomaly (limited to peripheral cardiac malformations, including interatrial anterior segment defects), Rieger anomaly septal defects and semilunar valve stenosis or (peripheral abnormalities with additional insufficiencies, have rarely been reported5-9.
changes in the iris), and Rieger syndrome Here we present a case of ARS with truncus (ocular anomalies and extraocular developmental arteriosus (TA) type IV. This is the first case defects especially of the teeth, facial bones, and periumbilical skin). Because of the marked genotypic and phenotypic overlap, it has been Case Report
proposed that these diseases are best considered The patient was a 14-year-old boy born from under the single ARS heading. These three nonconsanguineous healthy parents. He was the variations are now recognized as a spectrum of 9th sibling of the family. The pregnancy was the same syndrome1-3. In the literature, cases normal without any exposure to teratogenic with ocular and extraocular manifestations are agents. The delivery was also normal at term. either defined as ARS or Rieger syndrome4.
The family history did not reveal any other The most important ocular feature of the ARS is glaucoma, which develops in about 50% The patient had been referred to our clinic of affected individuals. The ocular anomalies because of bilateral gradual visual impairment. are suggested to represent an arrest of tissues Best corrected visual acuity was 0.3 in the derived from neural crest cells in gestation1.
right eye and 0.1 in the left eye. Slit lamp Axenfeld-Rieger Syndrome with Truncus Arteriosus 445 examination displayed a prominent, anteriorly latanoprost 0.005% (Xalatan, Pharmacia & displaced Schwalbe’s line in all quadrants of Upjohn, Uppsala, Sweden) once daily at 10:00 both eyes. The iris had stromal hypoplasia pm, and after one month of therapy, intraocular bilaterally. There were corectopia in the right pressure was 18 mmHg in the left eye.
and polycoria in the left eye (Figs. 1 and 2). Non-ocular abnormalities consisted of facial Gonioscopy revealed iris strands attached to configuration with flattening of the mid-face, a the Schwalbe line in both eyes. Cup/disc ratios thin upper lip, and protruding lower lip (Fig. 3). were 0.3 in both eyes. Intraocular pressures Hypodontia and microdontia were also present (Fig. 4). Physical examination revealed the in the left eye. Results of visual field testing absence of redundant skin around the umbilicus. with automated perimetry were fairly reliable We considered this patient’s ocular and non- in both eyes. Nonspecific visual field defects ocular abnormalities to be typical of ARS. After were detected because of pupillary distortion informed consent was obtained, peripheral blood in both eyes. There were no anomalies at the sample was obtained. Chromosome analysis lens or fundus. The patient was given topical revealed a 46-XY normal male karyotype.
Fig. 1. Biomicroscopic appearance of the right eye
Fig. 2. Biomicroscopic appearance of the left eye
showing distortion and displacement of pupil with showing distortion and displacement of pupil with full- thinning of iridic stroma, peripheric anterior synechiae thickness hole formation and thinning of iridic stroma.
Fig. 3. The patient’s facial configuration with flattening
of the mid-face, thin upper lip, protruding Fig. 4. Photograph illustrating dental anomalies such as
The Turkish Journal of Pediatrics • October - December 2007 Owing to clubbing and history of shortness ARS and TA, the range of reported cardiac of breath, the patient was referred to a malformations is enlarged and the importance cardiologist, who found a soft systolic thrill of cardiologic evaluation is emphasized in along the left sternal border and loud apical pansystolic murmur at the left lower sternal border, radiating to the whole precordial accompanying ARS have been described. In area and especially to the right side. A two- 1994, Tsai et al.5 described a patient with aortic dimensional echocardiographic examination stenosis associated with ARS. Cunningham revealed TA (Figs. 5 and 6). The patient was et al.6 then described ARS coexisting with admitted to another hospital for cardiac surgical atrial septal defects and sensorineural hearing loss, affecting multiple members of a single family. In 2000 Bekir et al.7 reported a 20-year-old girl with ARS associated with an atrial septal defect and interatrial aneurysm. Recently, Baruch and Erickson8 described two siblings presenting with ARS, hypertelorism, clinodactyly, and cardiac anomalies such as patent ductus arteriosus and atrial septal defect. Most recently, Grosso et al.9 reported a family with a clinical picture overlapping that described by Cunningham et al.6 and characterized by ARS in association with cardiac malformations and sensorineural deafness, without facial dysmorphisms, dental hypoplasia, or involuted periumbilical skin. However, in their patients, Fig. 5. Echocardiographic characterization of truncus
cardiac malformations were represented by arteriosus is ventricular septal defect (arrow) with truncus arteriosus. LV: Left ventricle. RV: Right mitral and tricuspid valve defects instead of the atrial septal defects observed in the patients of Cunningham et al.6.
Many hypotheses have been proposed for the pathogenesis of ARS on the assumption that the lesions have a common developmental origin during embryonic life. Because subsequent research has shown that the involved ocular tissues originate from the neural crest, ARS is now theorized as developing from the abnormal migration of neural crest cells10,11, despite this disease having first been described as mesodermal dysgenesis. Shields11 has proposed that there is a developmental arrest of certain anterior segment structures derived from neural crest cells that leave primordial endothelial layer on portions of the iris and anterior chamber Fig. 6. Truncus arteriosus type IV, ventricular septal
angle, appearing to account for the iridocorneal defect (white arrow) with pulmonary arterial agenesis (black arrow). LV: Left ventricle. RV: Right ventricle. strands and the changes in the central iris.
A developmental arrest of neural crest tissue is believed to account for the ocular and Discussion
most of the systemic abnormalities in ARS1-3. Embryological studies demonstrated that neural malformations has been described, but TA crest cells play a key role in the development has not been reported before5-9. With this of cardiac structures such as the outflow case demonstrating the association between tract and the aortic arch system. Takamura Axenfeld-Rieger Syndrome with Truncus Arteriosus 447 and associates12 have also shown that neural 4. Perveen R, Lloyd IC, Clayton-Smith J, et al. Phenotypic crest cells are intimately associated with the variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol formation of both the aortic and pulmonic 5. Tsai JC, Grajewski AL. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol 1994; documented with association to chromosome 413 chromosome 614, and chromosome 1315. 6. Cunningham ET Jr, Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, with association to these chromosomes16-18. atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol Conventional cytogenetic analysis in our case revealed a normal male karyotype 46-XY, but 7. Bekir NA, Güngör K. Atrial septal defect with further evaluation is crucial to determine the interatrial aneurysm and Axenfeld-Rieger syndrome. genetic role in ARS and TA association.
Acta Ophthalmol Scand 2000; 78: 101-103.
In the families described by Grosso et al.9 and 8. Baruch AC, Erickson RP. Axenfeld-Rieger anomaly, Cunningham et al.6, ARS, cardiac malformations hypertelorism, clinodactyly, and cardiac anomalies in and sensorineural hearing loss were present. sibs with an unbalanced translocation der(6)t(6;8). Am J Med Genet 2001; 100: 187-190.
The difference between these families in terms of cardiac anomalies was interpreted as the 9. Gross S, Farnetani MA, Berardi R, et al. Familial Axenfeld-Rieger anomaly, cardiac malformations, and variable expression of the same genetic defect. sensorineural hearing loss: a provisionally unique genetic Grosso et al.9 indicated that the inherited syndrome? Am J Med Genet 2002; 111: 182-186.
traits in members of the presented families 10. Bahn CF, Falls HF, Varley GA, Meyer RF, Edelhauser were connected and were not coincidental HF, Baurne WM. Classification of corneal endothelial and proposed that patients were affected by disorders based on neural crest origin. Ophthalmology a provisionally unique genetic syndrome as hypothesized by Cunningham et al.6. Genetic 11. Shields MB, Buckley E, Klintworth GK, Thresher R. studies will clarify whether they manifest Axenfeld-Rieger syndrome. A spectrum of developmental a unique phenotypic expression of ARS or disorders. Surv Ophthalmol 1985; 29: 387-409.
validate the hypothesis of Cunningham et al.6 in 12. Takamura K, Okishima T, Ohdo S, Hayakawa K. terms of a possibly new genetic syndrome.
Association of cephalic neural crest cells with cardiovascular development, particularly that of the To the best of our knowledge, this is the first semilunar valves. Anat Embryol 1990; 182: 263-272.
case in the literature of ARS with coexisting 13. Semina EV, Reiter R, Leysens NJ, et al. Cloning and TA. In light of this association, we suggest that characterization of a novel bicoid-related homeobox the diagnosis of ARS should be followed by transcription factor gene, RIEG, involved in Rieger systemic evaluation for congenital heart diseases. syndrome. Nat Genet 1996; 14: 392-399.
In patients with anterior segment dysgenesis and 14. Nishimura DY, Swiderski RE, Alward WL, et al. The TA, analysis of the genes that cause anterior forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat segment dysgenesis or other related genes should be pursued to determine their possible role in the pathogenesis of this syndrome.
15. Phillips JC, del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 1996; 59: 613–619.
1. Shields MB. Axenfeld-Rieger syndrome: a theory of 16. Velinov M, Gu H, Yeboa K, et al. Hypoplastic left mechanism and distinctions from the iridocorneal heart in a female infant with partial trisomy 4q due endothelial syndrome. Trans Am Ophthalmol Soc to de novo 4;21 translocation. Am J Med Genet 2002; 2. Pearce WG, Wyatt HT, Boyd TA, Ombres RS, Salter 17. Mirza G, Williams RR, Mohammed S, et al. AB. Autosomal dominant iridogoniodysgenesis: genetic Refined genotype-phenotype correlations in cases of features. Can J Ophthalmol 1983; 18: 7-10.
chromosome 6p deletion syndromes. Eur J Hum Genet 2004; 12: 718-728.
3. Shields MB. Axenfeld-Rieger and iridocorneal endothelial syndromes: two spectra of disease with 18. Pont SJ, Robbin JM, Bird TM, et al. Congenital striking similarities and differences. J Glaucoma 2001; malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A 2006; 140: 1749-1756.

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