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My Worst Nightmare Case: The Unrepairable Infant Mitral Valve
Alexander K. Reed, AB1, Peter Chiu, MD2, Chrystalle Katte Carreon, MD2, Stephen P. Sanders, MD2, Pedro J. del Nido, MD2, Christopher W. Baird, MD2.
1Harvard Medical School, Boston, MA, USA, 2Boston Children's Hospital, Boston, MA, USA.

Objective(s): Management of infants with severe symptomatic mitral disease can be a significant surgical challenge. Methods: A four-month-old girl was referred to our institution with new-onset severe mitral regurgitation. The patient underwent uncomplicated mitral valve repair, but several weeks later had recurrent severe mitral valve regurgitation in the setting of elevated troponin, EKG-changes, and reduced ejection fraction. Coronary angiography demonstrated severe diffuse coronary artery pathology. At the time of mitral valve re-repair, a coronary artery was biopsied, and histology was suggestive of Generalized Arterial Calcification of Infancy (GACI). Computed tomography revealed diffuse calcification throughout the coronary arteries and the visceral arteries, confirming the diagnosis. Several weeks following her second operation, she acutely decompensated with the echocardiogram demonstrating recurrent moderate mitral regurgitation. She returned to the operating room for mitral valve replacement. Post-operatively, the patient required high-dose inotropic support and had an episode of ventricular fibrillation secondary to ongoing ischemia and subsequently expired. Results: Whole exome sequencing identified two variants in the ENPP1 gene which has been implicated in GACI. Autopsy findings demonstrated diffusely calcified and occluded coronary arteries with infarction of the posteromedial papillary muscle and evidence of extensive biventricular and septal myocardial ischemia. Conclusion: Infants presenting with isolated mitral regurgitation in the absence of typical congenital valve anomalies should be suspected to have an ischemic etiology, including extremely rare syndromes such as GACI.


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