A Young Woman With an Abnormal Echocardiogram and a Purple Rash

Feb 28, 2024   |  Muhammad Umer, MD; Dinesh Kalra, MD, FACC
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A 40-year-old woman is referred to the clinic with remarkable electrocardiographic (ECG) findings and New York Heart Association (NYHA) functional class II exertional dyspnea. She has no known history of pulmonary disease, smoking, cardiac disease, diabetes mellitus, or dyslipidemia. She denies alcohol or illicit drug use and takes no medications. She initially presented to her primary care provider because of a 6-month history of shortness of breath after walking two blocks. She denies angina, weight gain, fluid retention, or palpitations. Review of systems is notable for intermittent burning pain in her hands and feet and a rash on her back, both since childhood. Her family history is negative for premature coronary artery disease (CAD) or sudden death, but her mother had atrial fibrillation and died of heart failure at 61 years of age.

Physical examination findings are significant for mildly elevated blood pressure (148/88 mm Hg) and red-purple, nonblanching papules on her lower back (Figure 1). Otherwise, the cardiovascular (CV) examination findings are unremarkable with normal jugular venous pressure, and no rub, murmur, or rales. Laboratory examination shows hematology and chemistry panel values within the reference ranges, but she has moderate albuminuria (200 mg/g urinary albumin-to-creatinine ratio) and a mildly elevated N-terminal pro–B-type natriuretic peptide serum level (350 pg/mL). A high-sensitivity troponin serum assay and chest X-ray have unremarkable findings. An ECG is obtained (Figure 2). Transthoracic echocardiography shows normal left ventricular (LV) size with a mild increase in basal septal thickness (13 mm) (Figure 3). Ejection fraction is 55%. Also noted are mildly enlarged left atrium, grade II diastolic dysfunction, and mildly reduced regional longitudinal strain in the basal inferolateral wall (-15.8%).

Figure 1: Red-Purple, Nonblanching Papules on the Lower Back. Courtesy of Umer M, Kalra D.

Figure 1

Figure 2: ECG With a Short P-R Interval, LVH With Strain Pattern, and TWI in the Lateral Leads. Courtesy of Umer M, Kalra D.

Figure 2
ECG = electrocardiogram; LVH = left ventricular hypertrophy; TWI = T-wave inversions.

Figure 3: Transthoracic Echocardiogram. Courtesy of Umer M, Kalra D.

Figure 3
PLAX view (panel A) and PSAX view (panel B) showing normal LV size and mild increase (13 mm) in the basal anteroseptal wall thickness (asterisk).
LV = left ventricle; PLAX = parasternal long-axis; PSAX = parasternal short-axis; RV = right ventricle.

Which one of the following tests would most likely help make the correct diagnosis?

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