2 Rare Cases of AAV-related Heart Disease in Teen Boys Reported

Heart issues in AAV may raise risk of stroke, researchers warn

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

Share this article:

Share article via email
A woman reaches up her arms as if to hug an anatomic image of her heart in front of her chest.

Two cases of teen boys with ANCA-associated vasculitis (AAV) that caused heart problems — a very rare manifestation of the autoimmune disease — were described in a recent report.

AAV-related heart issues may contribute to serious health concerns such as stroke, so it is important to screen for these rare problems in children with these blood vessel disorders, the researchers noted.

“We discuss the importance of keeping AAV on the differential [diagnosis] … as well as the importance of regular cardiac screening in newly diagnosed patients with AAV,” the team wrote, adding that, in adults, “it is a major factor of cardiac morbidity and mortality.”

The study, “ANCA-associated vasculitis with cardiac valve vegetations in two teenage males: two case reports and a literature review,” was published in the journal Pediatric Rheumatology.

Recommended Reading
A pair of dice are rolling.

Half of AAV Patients in Study Develop Poor Long-Term Outcomes

Report highlights cases of 2 teen boys

AAV during childhood or the teen years is extremely rare, and it is rarer still for the disease to cause heart problems. It is estimated that about 5% of pediatric AAV cases affect the heart.

Now, a trio of scientists at the Indiana University School of Medicine described two cases of pediatric AAV with heart involvement. Both teenagers specifically had a form of AAV called granulomatosis with polyangiitis, or GPA.

“These two cases highlight significant [heart valve] involvement in GPA in two teenage male patients, an extremely rare finding in the pediatric literature,” the scientists wrote. “Based on our literature search, only five other patients within the pediatric age realm have been described as having cardiac involvement.”

In the first case, a 15-year-old patient was brought to the researchers’ clinic after experiencing bloody nose, cough, fatigue, weight loss, fevers, and dark urine for several weeks. Initial evaluations indicated anemia, high blood pressure, and kidney dysfunction. Ultimately, laboratory tests confirmed a diagnosis of GPA.

During a kidney biopsy done in evaluating the teen, abnormalities in the electrical activity of the heart were incidentally noted as signs of possible disease. This prompted a full cardiac workup, which showed abnormal thickness of some of the heart’s valves, causing mild aortic regurgitation — a condition that causes some blood pumped out of the heart to leak back in.

He also had abnormal tissue growth in some areas of the heart, which were referred to as vegetation.

Notably, despite these abnormalities, the patient did not at first report any heart-related symptoms, such as chest pain. However, during his hospitalization, he experienced a thromboembolic (clot-related) stroke, likely related to these heart abnormalities.

“This patient was asymptomatic from a cardiac standpoint, yet ultimately developed thromboembolic stroke due to his cardiac involvement. To our knowledge, this is the first report of pediatric cardiac valvular involvement leading to thromboembolic stroke in GPA,” the researchers wrote.

In line with the institution’s protocols, the patient was treated with anti-inflammatory therapies — rituximab plus corticosteroids — in addition to symptomatic treatments to manage high blood pressure.

This ultimately led to a normalization of AAV-related laboratory tests. Kidney function and heart vegetation also normalized, though the patient still experiences some mild aortic regurgitation.

In the second case, a 16-year-old male patient was admitted to the emergency room due to respiratory failure. In the weeks prior, the patient had experienced cough, congestion, fevers, muscle pain, and stiff, swollen joints.

Heart assessments in this patient also revealed vegetation, as well as regurgitation and a reduced ejection fraction — meaning the amount of blood the heart was able to pump out to the rest of the body was reduced. Clinical evaluation also revealed pulmonary hemorrhage, or bleeding in the lungs, and reduced kidney function.

The teen underwent a complex diagnostic journey, with several initial evaluations for potential infection that were unsuccessful in identifying a cause for his condition. After about two weeks in the hospital, lab tests finally confirmed a diagnosis of GPA.

The patient was treated with steroids, plasma exchange, and rituximab, which led to an improvement in lung and kidney function. Heart vegetation resolved, and regurgitation has been stable.

“These two cases highlight cardiac involvement in GPA in two teenage males and the significant consequences that can occur from such involvement and related diagnostic dilemmas,” the researchers wrote.

“Given the high mortality and possible consequences (i.e., thromboembolic stroke) of cardiac involvement in patients with GPA, screening echocardiograms should be performed, as it may prove beneficial to gauge disease severity and guide therapy and management decisions to prevent complications of this rare form of vasculitis,” the team wrote.

The researchers urged that echocardiograms be done “in pediatric cases of vasculitis to fully evaluate the extent of disease and to guide treatment and management decisions.”