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A 31-year-old woman presented to clinic with decreased exercise tolerance due to shortness of breath for the past 2 weeks. She has no chest pain but was experiencing heart palpitations a few times per week. She denies any significant medical history, takes only multivitamins, and mentions a childhood heart murmur that was never evaluated.
On examination, her blood pressure was 125/85 mm Hg, with a heart rate of 71/min and respiratory rate of 18/min. Physical examination revealed a fixed split S2 and a 2/6 systolic murmur at the left upper sternal border. An electrocardiogram demonstrated sinus rhythm with incomplete right bundle-branch block. A chest radiograph was obtained (Figure 1). Transthoracic echocardiography demonstrated an enlarged right atrium and right ventricle; results of contrast echocardiography were negative.
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Sinus venosus atrial septal defect (ASD)
A. Order cardiac magnetic resonance imaging
The key to the correct diagnosis is correlating the presence of a heart murmur as a child with the chest radiography findings of increased vascularity and cardiomegaly as well as the echocardiogram findings of an enlarged right atrium and ventricle. In patients presenting with existing murmurs and signs of increased pulmonary blood flow, cardiac magnetic resonance imaging (CMR) provides more diagnostic information and should be performed prior to adding new medications (choice B), invasive study (choice C), or referral to a specialist (choice D). If a sinus venosus ASD (SVASD) is found, a CMR can delineate anatomy, shunt size, and estimate shunt flow, thus eliminating the need for cardiac catherization.
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Published Online: August 12, 2020. doi:10.1001/jama.2020.8415
Correction: This article was corrected on July 20, 2021, for incorrect labels in Figure 2 and to update the Figure 2 legend.
Corresponding Author: John E. Mayer Jr, MD, Department of Cardiovascular Surgery, Children’s Hospital Boston, 300 Longwood Ave, BCH 3084, Boston, MA 02115 (email@example.com).
Conflict of Interest Disclosures: Dr Mayer reported serving on a data safety and monitoring board for Medtronic. No other disclosures were reported.
Additional Contributions: We thank the patient for providing permission to share her information.
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