Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report

BACKGROUND: DiGeorge syndrome, also known as ‘CATCH 22’, is the most common deletion in humans and is one of the velocardiofacial syndromes. It is characterized by a specific facial phenotype, and structural and functional abnormalities in the cardiac and endocrine systems. One form of endocrine system dysfunction is hypocalcaemia, which causes arrhythmic events and can result in a transient loss of consciousness. We present a case highlighting the late diagnosis of DiGeorge syndrome in a patient with recurrent episodes of syncope due to suspected arrhythmic events secondary to hypocalcaemia. CASE SUMMARY: A 44-year-old woman was referred for further investigation of recurrent syncope episodes and documented transient QT-prolongation with hypocalcaemia. Previous detailed cardiological examination, including invasive procedures such as coronary angiography and cardiac magnetic resonance tomography, was unremarkable. Slight characteristic facial dysmorphia and transient hypocalcaemia were strongly suggestive of DiGeorge syndrome. The diagnosis was confirmed by genetic testing. Calcium substitution was initiated and no recurrent episodes of syncope or arrhythmic events were reported during 12 months of follow-up. DISCUSSION: Clinical presentation and time of manifestation of the DiGeorge syndrome varies widely depending on the mutation expression extent. An atypical disease course may delay the diagnosis and appropriate management of affected patients. In this case, confirmation of the diagnosis allowed the initiation of appropriate treatment, reducing the risk for further events. Given that syncope and arrhythmia can be the first and only manifestation of late-onset DiGeorge syndrome, specialists in adult cardiology need to be aware of this presentation.