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1 results

  • Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion

  • Balaganesh Karmegaraj
  • Journal:
    Cardiology in the Young / Volume 34 / Issue 2 / February 2024
    Published online by Cambridge University Press:
    03 January 2024, pp. 459-461
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  • 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.