Author: Destiny F. Chau, MD - Arkansas Children’s Hospital /University of Arkansas for Medical Sciences, Little Rock, AR
A 19-year-old female with a history of Turner Syndrome, chronic hypertension and aortic coarctation repair in infancy presents for a surveillance cardiac MRI. She is recovering from a viral upper respiratory tract illness four weeks prior. On preoperative evaluation, she complains of new onset headache and sharp chest pain radiating to her upper back and stomach that started an hour ago, which is unchanged by position or deep breathing. Current vital signs are: HR 94, 179/79, SpO2 97%, RR 22, Temp 36.8oC. Cardiac imaging six months prior demonstrated a bicuspic aortic valve with minimal gradient across the valve, repaired aortic coarctation, and an indexed aortic size of 2.5 cm/m2. Physical exam reveals a webbed neck, mild micrognathia and Mallampati Class II airway. Which of the following is MOST likely etiology of chest pain?
EXPLANATION
Turner syndrome is a chromosomal abnormality associated with the haploinsufficiency of the X chromosome, whereby one copy is absent or deficient, and the remaining X chromosome is not adequate to produce the needed genetic product to preserve normal function. The diagnosis of Turner syndrome requires the individual to be phenotypically female, and it occurs with a frequency of 1:2,500 live female births. Clinical manifestations of this syndrome include cardiac and renal abnormalities, webbed neck, lymphedema, short stature, premature ovarian failure and abnormalities in other organ systems. The majority of patients with Turner syndrome have normal intelligence, although they may have associated learning disabilities.
Patients with Turner syndrome have an increased risk of aortopathy and other congenital cardiovascular abnormalities, which are found in up to 50% of live born girls. Bicuspid aortic valve (~30%) and coarctation of the aorta (~18%) are the most common cardiac abnormalities that are observed in Turner syndrome patients. Other less frequent cardiac lesions include partial anomalous pulmonary venous return, ventricular septal defect, mitral valve anomalies and hypoplastic left heart syndrome. Patients with Turner syndrome are prone to the early development of systemic hypertension and aortic dilatation. Additionally, these patients are also pre-disposed to coronary artery disease, dyslipidemia, obesity, diabetes mellitus and stroke. Congenital and acquired cardiovascular disease is the major cause of death. Aortic dissection in Turner syndrome occurs earlier, at smaller aortic dilatation dimensions, and at approximately seven times the frequency of the general population. A recent scientific statement by the American Heart Association (Silberbach et al) states that Turner syndrome patients who are older than 15 years with bicuspid aortic valve, aortic coartation and/or hypertension, and an indexed aortic size greater than 2.3 cm/m2 are considered to be at high cardiovascular risk and should undergo cardiac evaluation every 6 -12 months. The statement also highlights the importance of prompt recognition of the presenting signs and symptoms of aortic dissection, an often-fatal complication.
Perioperative considerations for patients with Turner syndrome include a potential difficult airway due to the presence of short neck and micrognathia and other comordities involving the cardiovascular, renal and endocrine systems. As Turner syndrome patients advance in age, there is an increase in cardiovascular risk, portending to greater perioperative morbidity and mortality. The patient in the stem is at high cardiovascular risk and presents with the signs and symptoms of an aortic dissection. Though the patient is at risk for pericarditis given a recent viral upper respiratory tract infection, chest pain related to pericarditis is typically worsened by recumbent position or deep breathing. Chest pain may also be indicative of myocardial infarction, however the location and quality of chest pain described in the stem is more concerning for aortic dissection and rupture. The patient’s blood pressure is elevated on presentation and should prompt timely blood pressure control but pales in comparison to potential aortic dissection. Effective communication with the cardiac and surgical teams for further evaluation and medical management of the blood pressure is imperative to minimize morbidity and mortality.
REFERENCES
Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: A scientific statement from the American Heart Association. Circ Genom Precis Med .2018;11(10):e000048. doi:10.1161/HCG.0000000000000048
Mashour GA, Sunder N, Acquadro MA. Anesthetic management of Turner syndrome: a systematic approach. J Clin Anesth. 2005;17(2):128-130. doi:10.1016/j.jclinane.2004.06.010
Huang AC, Olson SB, Maslen CL. A review of recent developments in Turner syndrome research. J Cardiovasc Dev Dis. 2021;8(11):138. doi:10.3390/jcdd8110138
Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007;92(1):10-25. doi:10.1210/jc.2006-1374
