From the Guidelines
A precordial bulge in patients with osteogenesis imperfecta (OI) is likely due to chest wall deformities, including rib crowding, pectus carinatum, and a more horizontal position of the ribs, rather than solely cardiac enlargement. This is based on the most recent evidence from the Key4OI recommendations for lung function guidance in OI, which highlights the importance of evaluating pulmonary function in patients with OI due to their increased risk of respiratory failure and death 1. The study emphasizes that breathing impairments in OI are due to the thorax, including bones, lungs, airways, and respiratory muscles, and that the mutual connection and interaction of these contributors play a significant role.
Key Points
- Chest wall deformities are common in OI and can contribute to precordial bulge
- Pulmonary function evaluation is crucial in patients with OI to identify those at risk of respiratory complications
- The Key4OI panel recommends routine evaluation and monitoring of pulmonary function in patients with OI, starting when the child is old enough to understand the test and again when transitioning to adult care 1
- The use of guides and motivators for pulmonary tests in children can help evaluate children as young as 5 years old
Clinical Implications
The presence of a precordial bulge in a patient with OI should prompt further evaluation of pulmonary function, including questionnaires about pulmonary concerns and pulmonary function tests, rather than solely focusing on cardiac evaluation. This is because the underlying cause of the bulge is likely related to chest wall deformities and pulmonary function, rather than cardiac enlargement. Clinicians should err on the side of caution when screening pulmonary function in patients with OI, using cutoff values for FVC and FEV/FVC ratio based on clinical experience and expert opinion 1.
From the Research
Precordial Bulge
- A precordial bulge is a deformity of the chest wall, also known as pectus carinatum or funnel chest, which can be associated with cardiac disease 2.
- Electrocardiographic characteristics of patients with funnel chest before and after surgical correction using pectus bar have been studied, and it was found that ECG abnormalities in patients with funnel chest are frequent, and can normalize after surgical correction by the Nuss procedure 2.
- A study found that the rate of patients with J wave pattern in precordial leads V4-V6 increased from 8% before to 42% after surgery, suggesting that de novo J wave pattern in precordial leads V4-V6 is a frequent finding after surgical funnel chest correction using pectus bar 2.
- Precordial percussion has been used to detect cardiomegaly, and it was found that percussion distance in the left fifth intercostal space discriminated cardiomegaly with a high sensitivity and specificity 3.
- The precordial examination, including percussion and palpation, is a valuable tool in patient care, and can provide important information about cardiac disease, including cardiomegaly and murmurs 4.
- A thorough cardiac bedside examination, including the precordial examination, can make an echocardiogram unnecessary in some patients and complement the echo in every patient 4.