A 7-year-old girl is brought to the office for a routine physical examination. She and her parents have no concerns. The girl is in the second grade and has several friends at school. She is doing well academically, can tie her shoes independently, and is an adept soccer player. The patient is up to date on vaccinations and takes no daily medications. Weight is at the 50th percentile and height is at the 5th percentile for age. Examination shows a short, webbed neck and a broad chest with widely spaced nipples. Cardiovascular evaluation of this patient would most likely reveal which of the following anomalies?

Question

A 7-year-old girl is brought to the office for a routine physical examination.  She and her parents have no concerns.  The girl is in the second grade and has several friends at school.  She is doing well academically, can tie her shoes independently, and is an adept soccer player.  The patient is up to date on vaccinations and takes no daily medications.  Weight is at the 50th percentile and height is at the 5th percentile for age.  Examination shows a short, webbed neck and a broad chest with widely spaced nipples.  Cardiovascular evaluation of this patient would most likely reveal which of the following anomalies?

Quizplus · Accepted Answer

11ec25c8_d24d_bebe_bc81_85b6e1e3f0cb_MD0003_00 The patient's short stature, webbed neck, and broad chest are typical features of Turner syndrome (TS) (45,X). TS is the most common sex-chromosome abnormality and is caused by complete or partial loss of an X chromosome. Cardiovascular abnormalities are the most life-threatening comorbidity associated with TS. Therefore, all patients with TS require screening for cardiac disease with 4-extremity blood pressures and echocardiography. Left-sided cardiac anomalies are most common and include bicuspid aortic valve and coarctation of the aorta. Patients with coarctation and aortic valve disease, as well as those with hypertension, are at increased risk for aortic root dilation, which can progress to aortic dissection or rupture. (Choices A and E) Atrioventricular canal defects result from abnormal endocardial cushion development and include anomalies of the atrioventricular valves as well as atrial and ventricular septal defects. These defects are commonly seen in patients with Down syndrome. Atrioventricular canal defects Down syndrome (Choice C) Mitral valve prolapse is more prevalent in patients with connective tissue disorders (eg, Marfan syndrome, Ehlers-Danlos syndrome), who typically have tall rather than short stature. (Choice D) Tetralogy of Fallot is a cyanotic congenital heart disorder characterized by right ventricular outflow obstruction, overriding aorta, right ventricular hypertrophy, and ventricular septal defect. It is associated with DiGeorge syndrome (chromosome 22q11.2 deletion), which presents with cleft palate and craniofacial abnormalities (eg, low-set ears, bulbous nose). Tetralogy of Fallot Educational objective: Patients with Turner syndrome are at increased risk for cardiovascular abnormalities and should undergo cardiac evaluation (eg, echocardiography, 4-extremity blood pressures) to evaluate for bicuspid aortic valve, coarctation of the aorta, and aortic root dilation. References: Turner syndrome in girls presenting with coarctation of the aorta. (http://www.ncbi.nlm.nih.gov/pubmed/26323199) Cardiovascular phenotype in Turner syndrome-integrating cardiology, genetics, and endocrinology. (http://www.ncbi.nlm.nih.gov/pubmed/22707402)

A 7-Year-Old Girl Is Brought to the Office for a Routine