A 25-year-old immigrant from the Ukraine comes to the office because of exertional shortness of breath. He was an avid soccer player five years ago, but now describes fatigue and shortness of breath after brisk walking for 5-6 blocks. He denies any chest pain, palpitations, syncope, or lower extremity swelling. His weight has been stable. He takes no medications and has no allergies. He smokes 1 pack of cigarettes daily and drinks alcohol over the weekend. His grandfather died suddenly at the age of 34 years, but both his parents are in good health.
His blood pressure is 105/70 mm Hg in the right arm and 107/72 mm Hg in the left arm, and his pulse is 76/min. Cardiovascular examination reveals a normal apical impulse. There is a normal S1 with a fixed and wide split S2. There is no S3. He has a 2/6 mid-systolic murmur along the left upper sternal border. Femoral pulses are 2+ bilaterally and symmetrical. There is no peripheral edema.
The EKG shows normal sinus rhythm, right axis deviation, and incomplete right bundle branch block.
Which of the following is the most likely finding on transthoracic echocardiography?

Question

A 25-year-old immigrant from the Ukraine comes to the office because of exertional shortness of breath.  He was an avid soccer player five years ago, but now describes fatigue and shortness of breath after brisk walking for 5-6 blocks.  He denies any chest pain, palpitations, syncope, or lower extremity swelling.  His weight has been stable.  He takes no medications and has no allergies.  He smokes 1 pack of cigarettes daily and drinks alcohol over the weekend.  His grandfather died suddenly at the age of 34 years, but both his parents are in good health.
His blood pressure is 105/70 mm Hg in the right arm and 107/72 mm Hg in the left arm, and his pulse is 76/min.  Cardiovascular examination reveals a normal apical impulse.  There is a normal S1 with a fixed and wide split S2.  There is no S3.  He has a 2/6 mid-systolic murmur along the left upper sternal border.  Femoral pulses are 2+ bilaterally and symmetrical.  There is no peripheral edema.
The EKG shows normal sinus rhythm, right axis deviation, and incomplete right bundle branch block.
Which of the following is the most likely finding on transthoracic echocardiography?

Quizplus · Accepted Answer

This patient's presentation is consistent with a secundum type defect of the atrial septum, which is the second most common adult congenital heart defect after a bicuspid aortic valve. The murmur is due to additional blood flow from the left atrium (L to R shunt) through the interatrial septum into the right atrium and the pulmonic valve. This increased chronic flow causes right-sided volume overload, right ventricular chamber enlargement, and the symptoms seen in this patient (i.e., fatigue, shortness of breath). Younger adults are frequently asymptomatic and an ASD is recognized on clinical exam or EKG findings (e.g., right axis deviation and incomplete right bundle branch block). The chronic right-sided overload is well-tolerated for years but eventually leads to pulmonary hypertension, which can reverse the shunt (Eisenmenger syndrome). The deoxygenated blood bypasses the lungs into the systemic circulation and leads to chronic hypoxia with eventual cyanosis and clubbing on exam. As a result, a large ASD, or one with evidence of right-sided overload, should be surgically repaired and closed. (Choice A) A bicuspid aortic valve presents with a systolic murmur best heard at the right upper sternal border (stenosis). Aortic regurgitation from a bicuspid aortic valve is a diastolic murmur heard at the left upper sternal border. Additionally, significant aortic stenosis would result in a paradoxical splitting of S2, not fixed splitting as seen in this patient. (Choice B) There would not be left ventricular hypertrophy in the case of an ASD, as the overload occurs only on the right side and leads to right ventricular dilatation. (Choice C) Mitral stenosis resulting from rheumatic heart disease would be possible in a young eastern European with exertional dyspnea, but it presents with an opening snap followed by a low-pitched diastolic murmur at the apex best heard in the left lateral decubitus position (without a split S2). (Choice E) VSD is typically a pansystolic (depending on the pressure differential between the LV and RV) murmur and is usually associated with a palpable thrill, without any splitting of S2. Educational objective: Secundum type atrial septal defects (ASD) present as pulmonic outflow murmurs in the young along with a fixed split second heart sound. Uncorrected large ASDs can result in chronic right-sided volume overload leading to pulmonary hypertension. __________ References: Benefit of atrial septal defect closure in adults: impact of age. (http://www.ncbi.nlm.nih.gov/pubmed/20943671) Regional right ventricular deformation in patients with open and closed atrial septal defect. (http://www.ncbi.nlm.nih.gov/pubmed/21149289)

A 25-Year-Old Immigrant from the Ukraine Comes to the Office