Asia Pacific Journal of Pediatric and Child Health

Abstract Ref Number = APCP859

Poster Presentation

COARCTATION OF THE AORTA AND TURNER SYNDROME

Yun Istatik,Yun Istatik,Arnesya Pramadyani,Aman Pulungan Pondok Indah Hospital

Background : Turner's syndrome is one of the most common chromosomal abnormalities, occuring in approximately 1 in 2000 live-born female infants. Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. The prevalence of congenital heart disease among patients with Turner’s syndrome is high and can be fatal. Coarctation of the aorta and bicuspid aortic valve are the most common strucural malformations. Case Presentation Summary : Background Turner's syndrome is one of the most common chromosomal abnormalities, occuring in approximately 1 in 2000 live-born female infants. Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. The prevalence of congenital heart disease among patients with Turner’s syndrome is high and can be fatal. Coarctation of the aorta and bicuspid aortic valve are the most common strucural malformations. Objective To emphasize the importance of early echocardiography in patient with Turner’s syndrome. Case A six year old girl with Turner’s syndrome complained about her short posture compared to her other peers. The patient has been diagnosed with Turner’s syndrome since birth, upon examination the pediatrician found the presence of webbed neck, short fourth and fifth metacarpals and metatarsals, shield chest, cardiac murmur and low set ear and was confirmed by chromosomal analysis. The patients has not received any treatment regarding the diagnosis since there has not been any health complains. A year ago, the patient’s mother started to notice height difference between the patient and her friends. She then consulted to an endocrinologist to assess her daughter’s growth. The height was 97.5 cm (0%;-6.11) and the weight was 11.5 kg (0%;-4.17) Bone age and IGF-1 were also examined to confirm the short stature diagnosis. Bone examination suggested that the bone age was 5 years old, and the IGF-1 value was 77 (low). The patient was also referred to cardiologist for echocardiography examination. The echocardiogrpahy result indicated that there was a severe coarctatio aorta. The patient is now planned to undergo coarctatio aorta repair. Hormone therapy is postponed until the repair procedure is completed. Conclusion Patient with Turner’s syndrome often accompanied by Congenital Heart Disease, one of which is Coarctacio Arota. This condition can be fatal at early age or chronic and causing future health problem in the future. Early treatment is considered to avoid complications. Keyword : Turner's syndrome, short posture, IGF-1, Coarctatio aorta Learning Points/Discussion : Patient with Turner’s syndrome often accompanied by Congenital Heart Disease, one of which is Coarctacio Arota. This condition can be fatal at early age or chronic and causing future health problem in the future. Early treatment is considered to avoid complications.

Keywords: Turner syndrome Coarctatio Aorta Short Stature