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Ebstein's anomaly associated with trisomy 9p

To the Editor: We describe a female neonate conceived through artificial fertilization, who had a rare association of Ebstein’s anomaly and trisomy 9p. A full-term newborn, a girl, weighing 2594 g, was referred for further examination because of a heart murmur, marked tachypnea, and an unusual appearance. She was born to a 41-yearold, P1G0 mother and a 43-year-old father, who were unrelated. The mother had undergone artificial fertilization at age 40 years because of infertility. There was no family history of congenital heart disease. The initial physical examination demonstrated an unusual appearance with hypertelorism, low-set ears, micrognathia, microcephalus, webbed neck, Simian lines, and hypotonia, which were compatible with trisomy 9p (1–3). Marked tachypnea (78/min) with retraction and a systolic murmur at the fourth left sternal border with gallop rhythm were also noticed. A chest radiogram on admission showed marked cardiomegaly, with a cardiothoracic ratio of 75%, and increased pulmonary blood flow. Two-dimensional echocardiogram revealed an atrial septal defect and Ebstein’s anomaly. Blood gas analysis showed remarkable acidosis (pH 6.974) and hypercapnea (PCO2, 57 mmHg). The patient was immediately intubated and mechanically ventilated. She was also treated for cardiac failure with intravenous administrations of dopamine hydrochloride and furosemide. However, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley
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