Key result
Fetal 6q25.1 TAB2 deletion links to cardiomegaly and myxomatous degeneration of multiple cardiac valves.
Why the study?
6q25.1 (TAB2) deletion is a notable cause of myxomatous degeneration of cardiac valves, requiring consideration for prenatal counselling.
Case Report (n=1)
6q25.1 (TAB2) deletion is a notable cause of myxomatous degeneration of cardiac valves in fetuses, highlighting the importance of whole exome sequencing for prenatal counseling.
TAB2 deletion may explain select fetal myxomatous valves; leaves open whether whole exome sequencing should enter routine prenatal evaluation.
Myxomatous degeneration of one or more cardiac valves has been reported in trisomy 18, Noonan, Marfan, and Ehlers-Danlos syndromes. 6q25.1 (TAB2) deletion is one of the notable causes for myxomatous degeneration of cardiac valves. Whole exome sequencing must be considered in these subsets of cases for effective prenatal counselling. A 23-week fetus presented with cardiomegaly, redundant myxomatous tricuspid, mitral valve leaflets, thickened pulmonary valve, and bicuspid aortic valves detected to have 6q25.1 (TAB2) deletion was presented with literature review.
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Balaganesh Karmegaraj (2024) conducted a case report in Myxomatous degeneration of cardiac valves (n=1). 6q25.1 (TAB2) deletion was evaluated on Myxomatous degeneration of cardiac valves. A 23-week fetus with 6q25.1 (TAB2) deletion presented with cardiomegaly and myxomatous degeneration of multiple cardiac valves.
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