Heart condition SSS found in Sanfilippo patient for first time
Report details case of Chinese woman diagnosed with type A as a child
The case of a 44-year-old woman who was diagnosed with Sanfilippo syndrome type A co-occurring with a heart abnormality called sick sinus syndrome (SSS) was described in a recent report.
This is the first documented case of SSS in someone with Sanfilippo syndrome, according to researchers.
The study, “The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature,” was published in BMC Neurology.
SSS caused by problems with heart’s natural pacemaker
Sanfilippo type A is the most common and generally most severe form of Sanfilippo syndrome. Mutations in the SGSH gene cause it and is generally marked by neurological problems that manifest early in life.
Some forms of heart disease have previously been reported in people with various forms of Sanfilippo syndrome, including type A. However, there has never before been a documented case of someone with Sanfilippo syndrome who also has SSS, a condition caused by problems with the sinus node, the heart’s natural pacemaker.
The sinus node controls the electrical signals that keep the heart beating in a steady rhythm. When it doesn’t work properly, it can lead to irregular heart rhythms and related symptoms, including fatigue, dizziness, or fainting.
This case suggests SSS may be a potential associated feature of Sanfilippo A Syndrome.
In this case, scientists in China reported on a woman who came to their hospital due to a respiratory infection. The woman had been diagnosed with Sanfilippo syndrome as a child upon showing disease-typical neurological abnormalities, though at the time her disease subtype was not known. She had been taking levetiracetam (sold as Keppra, among others), which is used to reduce seizures, and clonazepam (sold as Klonopin and generics), which is used to alleviate anxiety.
During her stay in the hospital, the respiratory infection was dealt with without any notable issues. However, clinicians noticed that her heart was beating abnormally slowly. The researchers initially thought this could be a side effect of medications she was taking to manage her symptoms, but stopping these meds for a few days did not change her heart rhythm. Tests of the electrical activity of her heart then revealed she had SSS.
Following the diagnosis of SSS, the patient underwent further evaluations, including genetic testing that revealed a mutation in the SGSH gene. Collectively, these tests showed the woman had co-occurring Sanfilippo syndrome type A and SSS, a combination that’s never been reported before.
“To the best of the authors’ knowledge, this is the first reported case of SSS with an adult Sanfilippo A Syndrome,” the researchers wrote. “This case suggests SSS may be a potential associated feature of Sanfilippo A Syndrome.”
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