Cardiac MRI ID’s Heart Involvement in Boy With Juvenile Batten: Report

Study may be first of NCL-associated heart disease by cardiac MRI, researchers said

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

Share this article:

Share article via email
juvenile batten disease | Batten Disease News | MRI illustration

A cardiac MRI helped identify heart involvement in a 16-year-old boy with juvenile Batten disease, also known as CLN3 disease, a study showed.

Researchers were able to detect abnormalities in his heart’s myocardium, or muscle layer, indicative of cardiac involvement.

“The clinical use of cardiac MRI should be considered as a tool to directly and noninvasively characterize myocardial structure in the early stages of CLN3 disease, even before life-threatening events,” the researchers wrote.

The study, “Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report,” was published in Frontiers in Neurology.

Batten disease, or neuronal ceroid lipofuscinosis (NCL), refers to a group of inherited storage disorders marked by the toxic buildup of waste products — most notably a fatty molecule called lipofuscin — inside cells’ recycling compartments.

Recommended Reading
juvenile Batten disease trial | Batten Disease News | multiple thumbs up illustration

Enrollment Complete in Phase 1/2 Trial of Batten-1 for CLN3 Disease

While brain cells are particularly sensitive to this accumulation, the heart can also be affected, leading to symptoms like irregular heartbeat and thickening of the heart muscle (hypertrophic cardiomyopathy).

A cardiac MRI is commonly used to differentiate types of heart problems, including those associated with the abnormal buildup of molecules in the body’s tissues. However, it hadn’t yet been used to characterize or monitor heart involvement in Batten.

Researchers in Pisa, Italy described the case of a 16-year-old boy with juvenile Batten whose heart involvement was identified with cardiac MRI.

His medical history revealed he could sit unassisted at 6 months, walk at 18 months, and speak his first words at 1 year. He began having progressive vision problems at age 5 and seizures at 7, which were partially controlled with valproate treatment.

At 7, a brain MRI was reported normal, but shortly thereafter he began having neurological deterioration, irregular sleep patterns, and behavioral disturbances. Since then, annual electrocardiograms and echocardiograms — tests to assess the structure and function of the heart — were always normal.

Genetic testing revealed the boy had two unusual, but previously described, mutations in the CLN3 gene — one inherited from each parent. CLN3 mutations are the known cause of juvenile Batten.

At his latest exam, the boy could walk a few steps with support, but had significant problems with movement and muscle control. He was blind, had swallowing difficulties, severe cognitive decline, and speech problems.

A brain MRI found evidence of lesions throughout his brain, as well as brain shrinkage, and a test of its electrical activity also showed abnormalities.

At that time, an echocardiogram detected a mild enlargement of the heart’s left ventricle, its main pumping chamber.

The cardiac MRI indicated a thickening of the myocardial tissue that separates the heart’s left and right ventricles, but the mass of the left ventricle remained within normal range. Additional analyses revealed low T-1 weighted values, which typically suggest the accumulation of iron or fats.

“Our findings in this case of CLN3 disease confirm that some types of NCL are characterized by cardiac involvement with excess storage of … lipofuscin-like materials in [heart cells],” the researchers wrote.

The data overall support using a heart MRI for monitoring heart involvement in CLN3 disease.

While it’s “tempting to suggest the routine use of cardiac MRI for the early diagnosis of cardiac involvement in CLN3 disease and to monitor the effects of emerging therapies,” the research team wrote, pediatric patients or those with advanced dementia may require sedation to undergo such a test.

“To our best knowledge, this is the first study of NCL-associated heart disease by cardiac MRI,” the researchers wrote, noting that as a case report involving a single patient, “firm conclusions cannot be drawn.”

Larger studies are needed to confirm the utility of this tool in juvenile Batten patients, they said.