Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion.
Balaganesh KarmegarajPublished in: Cardiology in the young (2024)
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.
Keyphrases
- aortic valve
- mitral valve
- aortic stenosis
- left ventricular
- aortic valve replacement
- transcatheter aortic valve replacement
- transcatheter aortic valve implantation
- pregnant women
- pulmonary hypertension
- peripheral blood
- heart failure
- clinical trial
- ejection fraction
- pulmonary arterial hypertension
- coronary artery
- coronary artery disease
- study protocol
- aortic dissection