From the Guidelines
In a 5-year-old boy with D-Transposition of the Great Arteries (DTGA), Perimembranous Ventricular Septal Defect (VSD), and Pulmonary Stenosis (PS), a harsh systolic ejection murmur and a holosystolic murmur would be expected, along with a single second heart sound (S2). The auscultation would likely reveal a harsh systolic ejection murmur at the left upper sternal border due to the pulmonary stenosis, which creates turbulent blood flow through the narrowed pulmonary valve, as murmurs caused by blood flow across normal or obstructed valves (e.g., PS) become louder with both isotonic and isometric exercise 1. A holosystolic murmur would also be present at the left lower sternal border from the VSD, as blood shunts between the ventricles throughout systole, and murmurs of VSD increase with handgrip exercise 1. The second heart sound (S2) would typically be single rather than split, due to the abnormal relationship of the great arteries. An S3 gallop might be present if heart failure is developing. A thrill (palpable vibration) may be felt at the left sternal border corresponding to the VSD or PS murmur. These findings reflect the complex hemodynamics of this congenital heart condition, where blood flows abnormally through the transposed great arteries, across the ventricular septal defect, and through the stenotic pulmonary valve, as described in the management of adults with congenital heart disease 1. Key characteristics of the expected heart sounds include:
- Harsh systolic ejection murmur at the left upper sternal border
- Holosystolic murmur at the left lower sternal border
- Single second heart sound (S2)
- Possible S3 gallop
- Possible thrill at the left sternal border.
From the Research
Expected Heart Sounds in DTGA with VSD and PS
The expected heart sounds in a 5-year-old boy with D-Transposition of the Great Arteries (DTGA) having a Perimembranous Ventricular Septal Defect (VSD) and Pulmonary Stenosis (PS) can be summarized as follows:
- A harsh systolic ejection murmur due to pulmonary stenosis 2
- A pansystolic murmur due to the ventricular septal defect 3
- Possibly, a single second heart sound (S2) due to the transposition of the great arteries 4
- Decreased or absent pulmonary valve sounds due to pulmonary stenosis 2
Clinical Presentation
The clinical presentation of DTGA with VSD and PS can include:
- Cyanosis due to inadequate oxygen delivery to the systemic circulation 4, 3
- Respiratory distress or failure to thrive 2
- Clubbing of the fingers and toes due to chronic hypoxia 3
- Increased risk of pulmonary hypertension and pulmonary vascular disease 5, 6
Diagnostic Considerations
Diagnosis of DTGA with VSD and PS typically involves: