Cardiovascular Features in Adult Individuals Affected with Tatton-Brown-Rahman Syndrome
January 2024
in “
Genetics in Medicine Open
”
Studysummary In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
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The study reports on two adult patients with Tatton-Brown-Rahman syndrome (TBR), highlighting new cardiovascular features such as atrial fibrillation and bilateral ventricular and atrial dilatation. The first patient, a 41-year-old male, exhibited severe biventricular cardiomyopathy and aortic dilatation, while the second patient, a 38-year-old male, had severe left ventricular dilatation and an abdominal aortic aneurysm with dissection. Both patients had high stature, intellectual disabilities, and specific pathogenic variants in the DNMT3A gene. The findings suggest that TBR syndrome should be considered in adults with these cardiovascular manifestations and recommend regular cardiovascular follow-up for children diagnosed with TBR extending into adulthood.
