R-2026-2

Jan.2025

Journal of Bone and Mineral Research, 2025, 40, 211–221

https://academic.oup.com/jbmr/article/40/2/211/7922271

Heart & Blood Vessel Health in Adults with OI

IN SUMMARY

Heart and blood vessel problems do happen in adults with OI, and a few seem more common than usual, but there is not yet enough proof to justify routine heart scans for everyone. Instead, every adult with OI should get a basic heart check at regular visits, and any possible heart symptom should be looked into quickly.

That is the conclusion of 15 OI and heart specialists from the US and Europe. They screened 4,393 published papers (1960–2023), kept 165 that were relevant, met for three days in January 2024, and voted on 14 recommendations. Worth knowing: 107 of those 165 papers were single-patient case reports, so the evidence is thin.

Source: Folkestad L, Prakash SK, Nagamani SCS, et al. Cardiovascular disease in adults with osteogenesis imperfecta. Journal of Bone and Mineral Research. 2025;40(2):211–221. doi.org/10.1093/jbmr/zjae197 (open access).

Points of interest: the big picture

• Heart disease is a leading cause of death in OI, just as it is for everyone. In Danish national data it caused 17.9% of deaths in OI and 25.6% in the general population, a difference that was not statistically meaningful.

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• Heart failure is the standout. Adults with OI were about 2.3 times as likely to be diagnosed with heart failure, and at a much younger age: around 58 versus 76.

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• "Clogged artery" disease was not more common. Diabetes and high cholesterol were also similar. However, more adults with OI took blood pressure medicine (28% vs 22%) and anti-inflammatory painkillers like ibuprofen (57% vs 47%).

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• It makes biological sense. Type I collagen, the protein affected in most OI, is a building block of heart muscle, heart valves, the cords that hold the valves, and artery walls. OI mice show heart changes, though those mice resemble severe OI more than the milder types most people have.

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• Your OI type or gene can't predict your heart risk yet. Doctors should keep the heart in mind for everyone with OI, whatever the genetic test says.

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• Some heart scans show subtle differences, such as a slightly enlarged right side of the heart or a mildly stiff left side. Pumping strength is usually normal, and nobody yet knows whether these changes matter or get worse over time.

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Points of interest: what to watch for

• Shortness of breath is common in OI (about 1 in 5 adults in one Norwegian study). It could come from the lungs, the chest shape or the heart, so doctors should check both heart and lungs rather than assume.

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• Leaky heart valves are the clearest finding. In Danish data, a leaky mitral valve was about 6 times as common and a leaky aortic valve about 4.5 times as common. Aortic leaks tend to show up after 40 and mitral leaks after 60, and only a small share need surgery.

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• The main artery leaving the heart (the aortic root) is often slightly wider, usually by just 1–2 mm. Seriously enlarged aortas are rare. Because many people with OI are short, raw measurements can mislead.

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• Bulges and tears in blood vessels (aneurysms and dissections) have been reported, mostly in arteries of the neck and brain. They have not been shown to be more common overall, but they seem more likely after injury or earlier aortic surgery.

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• Red flags: chest, back or leg pain with no clear cause, or stroke-like symptoms that don't go away, should be checked urgently for a blood vessel cause.

• After about age 50, heart failure and valve disease seem to rise, so extra alertness is warranted.

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• What every check-up should include: questions about breathlessness and palpitations, listening for murmurs, and checking pulses and ankle swelling. Routine echocardiograms (heart ultrasounds) are not advised unless the exam or symptoms point to a problem.

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Points of interest: tests and surgery

• Automatic blood pressure cuffs are generally safe. Studies covering hundreds of procedures found no arm fractures from cuffs. People with badly bowed arms may need another method.

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• Heart ultrasounds should be adapted to the person's body shape. The panel asks that the report include four aorta measurements (annulus, sinuses of Valsalva, mid-ascending aorta and arch). Families can ask for this when the test is ordered.

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• Measurements should be adjusted for body size (indexed or as Z-scores), or real enlargement can be missed. These adjustments are less reliable for very small adults.

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• Valve surgery can go well in OI, but it carries extra risk. Tissue is more fragile, bleeding is more likely and wounds may heal slowly. One older series reported 6 deaths among 33 patients, though later data look more favorable.

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• Before any heart surgery: use a high-volume center, plan as a team, image the neck if needed, assess the airway carefully (sleep apnea affects up to half of people with OI), pad and position gently, and have bleeding-control drugs ready.

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• Tissue (bioprosthetic) valves are often preferred over mechanical ones, because they avoid lifelong blood thinners, which complicate future bone surgery.

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What we still don't know

Most of the evidence comes from single cases and small groups, which tend to over-report unusual problems. The panel calls for large, long-term studies that include men and women, different ethnic backgrounds and older adults, plus animal models that match the milder OI types most people have. People with OI were not formally on the panel, and the authors say future research should include them.

Why This Is Important

This is the first expert consensus on heart care for adults with OI, and it puts in writing what many families already sense: OI is not just a bone condition. It gives patients and doctors shared language and concrete asks. Listen to the heart at every visit. Take breathlessness seriously. Report the four aorta measurements, adjusted for body size. Send people to experienced centers for surgery. A family can bring this paper to a doctor who has never seen an adult with OI and point to specific, published recommendations.

"No routine screening" should not be heard as "nothing to worry about." It reflects missing evidence, not proof of safety, and heart failure appearing nearly 20 years earlier than usual is a real warning sign. The practical message is to stop writing off heart and breathing symptoms as "just OI." The authors also name patient advocacy groups as trusted bridges between research and everyday care. That makes plain-language resources like this one part of what the experts are asking for, and a solid starting point for drilling into each topic.

Original Study TEXT

https://academic.oup.com/jbmr/article/40/2/211/7922271