CHAPTER 6

### PATIENT STORY 1

A 45-year-old woman is referred to cardiology for a murmur and abnormal echocardiogram. She had overall a healthy life. She had 3 uncomplicated pregnancies. Although she does not exercise regularly, she had always been able to keep up with her peers. She denied chest pain, shortness of breath or palpitations. At her most recent annual physical examination, her primary care physician auscultated a holosystolic murmur at the apex and at the left sternal border. He referred her for an echocardiogram and subsequently to cardiology for further evaluation. Her past medical history included an appendectomy and well-controlled hypertension with a single drug (thiazide diuretic). She has been a lifelong nonsmoker, works as a second-grade teacher, lives with her husband and has a youngest child in college. Her physical examination revealed a blood pressure of 126/80 mm Hg, heart rate 65 bpm with normal saturations on room air. She had a diffuse apical impulse, 2/6 holosystolic murmur at the apex, radiating to the left sternal border, normal pulses, and no edema on her cardiovascular examination. There were clear lungs and no jugular venous distension. There was no evidence of hepatosplenomegaly on abdominal examination. Echocardiography revealed congenitally corrected transposition of the great arteries (CC-TGA) (with ventricular inversion) with moderate systemic atrioventricular valve regurgitation.

### PATIENT STORY 2

A 2-month old infant presents for a routine visit. He was born at term to a G1, now P1 mother. His mother reported difficulty and diaphoresis with feeds. His birth weight was 7 lb 4 oz. Current weight was 8 lb 14 oz (<3 percentile). His pediatrician auscultated a murmur and refers to pediatric cardiology for further evaluation. On physical examination the infant appears to be thin, mildly ill-appearing infant but in no acute distress. O2 saturations were 88% on room air. On cardiovascular examination, the infant had a soft holosystolic murmur at left lower sternal border and a harsh systolic ejection murmur at the right upper sternal border. The liver was 3 cm below the right costal margin. He had normal pulses and clear lungs. Echocardiography revealed the underlying diagnosis of CC-TGA with a ventricular septal defect and pulmonary valve stenosis.

#### CASE EXPLANATION

• These 2 cases represent the extremes at which CC-TGA, also known as L-TGA or ventricular inversion, can present.

• Patients with isolated CC-TGA are frequently diagnosed due to an abnormal chest x-ray (CXR), electrocardiography (ECG), development of a murmur, or rarely with the development of complete heart block.

• Presentation in middle age or beyond is not uncommon, and overall prognosis in these patients is excellent.

• Patients who have other associated cardiac anomalies, such as the infant in Case 2 with a ventricular septal defect and pulmonary stenosis, present at a younger age with a much more variable course.

• Management of the entire spectrum of CC-TGA is complicated by a lack of quality data to guide appropriate therapeutic options.

#### EPIDEMIOLOGY

• CC-TGA occurs in approximately 1 in 13,000 live births.

• Male to female ratio is approximately 1.5:1.

• Typically, CC-TGA occurs in situs solitus, which means the ...

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