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Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature


1 Department of Cardiology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA
2 Department of Pathology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA
3 Department of Cardio-Thoracic Surgery, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA

Correspondence Address:
Dr. Richard U Garcia
Department of Cardiology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Blvd, Detroit, Michigan 48201-2119
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/apc.APC_144_18

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Year : 2019  |  Volume : 12  |  Issue : 3  |  Page : 298-301

 

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We present the case of a 7-week-old male infant diagnosed with anomalous left coronary artery from the pulmonary artery (ALCAPA) who underwent repair by left coronary artery reimplantation, followed by an eventful postoperative period including need for venous arterial extracorporeal membrane oxygenation and mitral valve replacement due to mitral calcification and severe insufficiency. He also required heart transplant due to severe rapidly progressive biventricular hypertrophy. The pathology examination of the explanted heart showed massive cardiomegaly. Subsequently, the infant's cardiomyopathy panel was positive for RAF1 mutation, consistent with diagnosis of a rare form of Noonan syndrome. To our knowledge, this autosomal dominant condition in association with ALCAPA has not been previously reported in the literature.






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1 Department of Cardiology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA
2 Department of Pathology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA
3 Department of Cardio-Thoracic Surgery, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan, USA

Correspondence Address:
Dr. Richard U Garcia
Department of Cardiology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Blvd, Detroit, Michigan 48201-2119
USA
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/apc.APC_144_18

Rights and Permissions

We present the case of a 7-week-old male infant diagnosed with anomalous left coronary artery from the pulmonary artery (ALCAPA) who underwent repair by left coronary artery reimplantation, followed by an eventful postoperative period including need for venous arterial extracorporeal membrane oxygenation and mitral valve replacement due to mitral calcification and severe insufficiency. He also required heart transplant due to severe rapidly progressive biventricular hypertrophy. The pathology examination of the explanted heart showed massive cardiomegaly. Subsequently, the infant's cardiomyopathy panel was positive for RAF1 mutation, consistent with diagnosis of a rare form of Noonan syndrome. To our knowledge, this autosomal dominant condition in association with ALCAPA has not been previously reported in the literature.






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