A GURBUZ, B LAFCI, B OZPAK, O ASLAN, I YUREKLI, U YETKIN
down’s syndrome, right aortic arch anomaly., tetralogy of fallot
A GURBUZ, B LAFCI, B OZPAK, O ASLAN, I YUREKLI, U YETKIN. Pentalogy of Fallot and Down’s syndrome with right aortic arch anomaly. The Internet Journal of Thoracic and Cardiovascular Surgery. 2008 Volume 14 Number 1.
Down syndrome is a disease caused by trisomy of chromosome 21. Tetralogy of Fallot is often associated with chromosomal aberration.In this study we describe a case of pentalogy of Fallot and Down’s syndrome with right aortic arch anomaly.
Down's syndrome (DS) is the most common chromosomal abnormality due to a trisomy of chromosome 21 commonly associated with congenital heart defects (CHDs) (1). The frequency of presentation is one in 650 live births. Frequency in the general population is about 1%. Cardiac malformation is the main cause of mortality in the first 2 years of life (2). Tetralogy of Fallot is often associated with chromosomal aberration, with certain gene loci (3). Anomalies of the aortic root vessels may present in adults and are common incidental findings during standard vascular imaging. Knowledge of their presentation and management is important for surgeons dealing with vascular pathology within these anomalous vessels (4).
Our case was a 11-month-old male with Down’s syndrome. His transthoracic echocardiography revealed pentalogy of Fallot and right sided aortic arch when he was 7 months old. A perimembranous no-restrictive VSD of 10 mm and a secundum type ASD of 5.6 mm were detected. Moreover, main pulmonary artery was narrow with restriction of the pulmonary valve leaflets’ motion. There was a systolic pressure gradient of 70 mm Hg through pulmonary valve. Furthermore, aorta was 45% dextroposed. Subsequent cardiac catheterization confirmed right sided aortic arch and secundum type ASD accompanying tetralogy of Fallot (Figures 1&2).
McGoon ratio was calculated as 2.3/1. LVEDD was measured as 2.24 cm. Moreover, severe infundibular and valvular stenosis of the main pulmonary artery was detected. Aortic arch was bending on itself and descending along the right side of the vertebral column, possessing normal branches. Our patient was taken into the operating room, planning a total correction. VSD of 2x2 cm was closed with cross-annular patch plasty. RVOT was resected and reconstructed by using a Dacron patch, considering a lower probability of hemorrhagic leakage. ASD was repaired
Children with Down's syndrome and congenital heart defects have multiple problems (5). A classification system for aortic arch anomalies based on arch configuration is presented: (i) double aortic arch, (ii) right aortic arch, (iii) left aortic arch with abnormal branching, and (iiii) interrupted aortic arch. Anomalies of the aortic root vessels may be classified based on their presence or absence, their anomalous size or course, or their atypical origin, bifurcation, or subsequent branching pattern. Knowledge of aortic arch and root vessel anomalies is important for any clinician dealing with cardiothoracic, head and neck, or intracranial pathology (4).
Forty-seven cases of cervical aortic arch have been reported in the literature. Eleven of these patients had congenital cardiac defects, including tetralogy of Fallot in three. An additional case of cervical aortic arch and tetralogy of Fallot is presented in the study of Patel et al (6).
In the study of de Rubens Figueroa et al; 58% of the children with DS had congenital heart malformation (2).
In the study of Wheeler et al; a case of the combination of tetralogy of Fallot, hypertrophic cardiomyopathy, and Down's syndrome is reported and this is the first report on the combination of the 3 entities (3).
The aim of the study of Abbag is to determine the frequency and types of congenital heart diseases (CHDs) and other congenital anomalies among Down syndrome (DS) patients and 98 DS patients seen in 11 years. Ninety-three patients had echocardiography; CHDs were found in 57 patients (61.3%). Ventricular septal defect (VSD) was the most common (33.3%). The most common noncardiac anomalies were gastrointestinal (7).
The study of Nisli et al aimed to evaluate the frequency and types of CHD patterns in Turkish children with DS. Four hundred and twenty-one out of the 1042 paediatric patients with DS studied over a 13-year period had associated CHD. Of these, 320 (77.6%) had a single cardiac lesion, while the remaining 92 patients (22.4%) had multiple defects. The most common single defect was an atrioventricular septal defect (AVSD) found in 141 patients (34.2%) (1).
In the study of Parvathy et al; 21 patients with Down's syndrome and congenital heart defects operated in their institute. The heart lesions ranked in incidence as follows: atrioventricular septal defect 7 (33.3%), tetralogy of Fallot 3 (14.3%), tetralogy of Fallot & atrioventricular septal defect both 2 (9.5%) (5).
In the study of Lo et al.; 149 Chinese children with Down's syndrome and congenital heart disease were studied. The commonest lesion was ventricular septal defect which was present in 43.6% and tetralogy in Fallot (13.4%) (8).
In the retrospective study of Calderón-Colmenero et al., the patients with Down's syndrome that were surgically treated for correction or palliation for their congenital heart disease. In this period they were surgically treated 37 patients. Three patients had tetralogy of Fallot and two atrial septal defect. The surgical treatment was corrective in 89% patients. The most frequent complication was rhythm and conduction disorders (9).
In conclusion; for the patients with Down's syndrome is important a complete clinical evaluation with an eye toward establishing an opportune surgical treatment (9). From a purely surgical viewpoint, the prognosis for children with Down's syndrome and congenital heart disease is good (5). Down syndrome patients should be screened by echocardiography early . The mortality in DS is highest among those with congenital anomalies, and therefore, early intervention is crucial (7).