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Life expectancy in adults with congenital heart disease (ACHD) has increased. As these patients grow older, they experience aging-related diseases more than their healthy peers. To better characterize this field, we launched the multi-disciplinary BACH (Brain Aging in Congenital Heart disease) San Donato study, that aimed at investigating signs of brain injury in ACHD. Twenty-three adults with repaired tetralogy of Fallot and 23 age- and sex-matched healthy controls were prospectively recruited and underwent brain magnetic resonance imaging. White matter hyperintensities (WMHs) were segmented using a machine-learning approach and automatically split into periventricular and deep. Cerebral microbleeds were manually counted. A subset of 14 patients were also assessed with an extensive neuropsychological battery. Age was 41.78 ± 10.33 years (mean ± standard deviation) for patients and 41.48 ± 10.28 years for controls ( p  = 0.921). Albeit not significantly, total brain ( p  = 0.282) and brain tissue volumes ( p  = 0.539 for cerebrospinal fluid,  p  = 0.661 for grey matter,  p  = 0.793 for white matter) were lower in ACHD, while total volume ( p  = 0.283) and sub-classes of WMHs ( p  = 0.386 for periventricular WMHs and  p  = 0.138 for deep WMHs) were higher in ACHD than in controls. Deep WMHs were associated with poorer performance at the frontal assessment battery (r = -0.650,  p  = 0.012). Also, patients had a much larger number of microbleeds than controls (median and interquartile range 5 [3–11] and 0 [0–0] respectively;  p  &lt; 0.001). In this study, adults with tetralogy of Fallot showed specific signs of brain injury, with some clinical implications. Eventually, accurate characterization of brain health using neuroimaging and neuropsychological data would aid in the identification of ACHD patients at risk of cognitive deterioration.

Adults with tetralogy of Fallot show specific features of cerebral small vessel disease: the BACH San Donato study