Crouzon Syndrome Associated with Congenital Coarctation of Aorta.

To the Editor: Crouzon Syndrome (CS), also known as craniosynostosis, is an autosomal dominant genetic disorder linked to single-gene mutation of fibroblast growth factor receptor 2 (FGFR2).[123] The premature fusion of certain skull bones results in a serial of dysmorphic features including underdeveloped maxilla, protruded mandible, shallow orbits, proptosis, and beaked nose. Other abnormalities were reported as visual impairment, hearing problems, and airway obstruction. It is not common that CS presents with congenital cardiac anomalies, making up only four cases across the world so far.[4567]

A 4-month-old male baby was referred to Children's Hospital Affiliated to Capital Institute of Pediatrics for surgical correction of multiple deformities. The patient presented to a local hospital with a history of snoring breath, poor feeding, choking, progressing bulging of forehead, and exophthalmos [Figure 1a], which alerted the physician to conduct genetic test for the whole family. A potential new mutation in exon 8 of FGFR2 located on chromosome 10q26 was only identified in this patient, which results in coding changes that cytosine is replaced with guanine in nitrogen bases and cysteine is substituted with serine in protein formation. The diagnosis of CS was made based on the clinical features and genetic test.

Figure 1

Representative image of a 4-month-old male baby diagnosed with Crouzon Syndrome. (a) The patient presented with bulging of forehead and exophthalmos. (b) Computed tomography of the heart large vessel showed that aortic arch isthmus was very narrow, aortic arch dysplasia. (c) Magnetic resonance imaging of the brain showed the cerebral edema increased significantly and the herniation of the lower brain was increased after 1 month.

There was neither remarkable family history nor neonatal history; however, the heart murmur was detected in a scheduled infantile general checkup and further investigations revealed coarctation of aorta, aortic dysplasia, and bicuspid aortic valve. Echocardiography showed: aortic dysplasia, ascending aorta diameter was 11.5 mm, the aortic diameter after first, second and third branches were 5.9 mm, 5.0 mm, 3.6 mm. The narrowest place was located in 17 mm beyond the left subclavian artery, the narrowest diameter was 1.8 mm, where the velocity was 392 cm/s, differential pressure was 62 mmHg(1 mmHg=0.133 kPa). Computed tomography scan of cardiac and main blood vessel showed that the proximal ascending aorta diameter was 12.2 mm, proximal aortic arch diameter was 5.5 mm, distal aortic arch was 3.5 mm, and the beyond left subclavian artery was 8.0 mm. Aortic isthmus was severely narrow, almost interrupted, beyond which the vascular cavity diameter was 10.7 mm [Figure 1b].

The repeated magnetic resonance imaging demonstrated a few other comorbidities such as on-progression hydrocephalus, cerebellar infratentorial herniation, posterior laryngeal wall stenosis, and severe obstructive sleep apnea [Figure 1c]. Thereby, a cranial decompression procedure was performed, followed by a combined elective surgery involving cardiac and neurological surgical units on December 6, 2017. A ventriculoperitoneal shunt was established first and then the arterial ligament was cut off and the narrow segment was enlarged with the bovine pericardium which was called an aortic arch constriction surgery. Postoperative cranial pressure was significantly reduced and the circulation was stable. The inner diameters of the transverse arch and descending aorta were about 7.0 mm and 12.0 mm from the isthmus, respectively, the inner diameter of the tube was about 5.0 mm, and the flow rate was 207 cm/s, and the pressure difference was 28 mmHg. As a result, the patient was discharged 8 days postoperatively.

Along with Apert Syndrome and Pfeiffer Syndrome, CS is one of more than 70 recognized types of premature craniosynostosis.[1] The related gene was first located on 10q25–26 in 1994, confirming that the disorder was caused by FGFR2 gene mutation.[23] This case was induced by a possible new gene mutation, presenting with CS and multiple cardiac anomalies. Severe hydrocephalus and associated infratentorial herniation pushed the patient into a life-threatening condition. Hence, the combined surgical approach between cardiac surgery and neurosurgery was adopted to lower the perioperative risks and gain more time for advanced procedures. As stated above, congenital cardiac deformities can be one of the comorbidities of CS, which requires attention while making diagnosis of simple CS. In addition, our successful experience shines a light into the surgical treatment of pediatric patients with CS and cardiac anomalies.

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