The mitral valve was competent, and there was mild tricuspid valve incompetence. The atrioventricular valves had redundant and myxomatous leaflets a and b Video 1 and Video 2 ]. The atrioventricular and ventriculoarterial connections were concordant. There was usual atrial and abdominal arrangement. There was a pan systolic murmur at the left para-sternal border and a mid-diastolic murmur at the apex.Īn echocardiogram was performed. There was an ejection click, and the pulmonic component of the second heart sound was loud. The infant was tachypneic with an enlarged liver and easily palpable femoral pulse. There were dysmorphic features including low set ears, small head, micrognathia, short palpebral fissures, and clenched fists. Her birth weight was 2.4 kg, and she weighed only 2.9 kg. Available from: Ī 4-month-old infant was referred to us for evaluation of heart failure. Septal defect with polyvalvular involvement: A cardiac imaging hallmark of Trisomy 18.
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How to cite this URL: Sennaiyan UN, Kiruthika S, Krishna MR.
Keywords: Myxomatous AV valves, bicuspid semilunar valves, chromosomal abnormalities How to cite this article: Sennaiyan UN, Kiruthika S, Krishna MR. We present echocardiographic images of an infant with Trisomy 18 who had a large ventricular septal defect and abnormalities of all cardiac valves. A ventricular septal defect along with abnormalities of more than one cardiac valve is considered to be an imaging hallmark of Trisomy 18. Hospital for Women and Children, Thanjavur, Tamil Nadu, India 2 Department of Pediatrics, Thanjavur Medical College, Thanjavur, Tamil Nadu, IndiaĬlick here for correspondence address andĬongenital Heart Diseases occur in close to 90% of children with Trisomy 18. Usha Nandhini Sennaiyan 1, S Kiruthika 2, Mani Ram Krishna 1ġ Department of Pediatric Cardiology, R.K. Septal defect with polyvalvular involvement: A cardiac imaging hallmark of Trisomy 18
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