Bi‐Allelic null variant in Matrix Metalloproteinase‐15 MMP ‐15, causes Congenital Cardiac Defect, Cholestasis Jaundice and Failure to Thrive

Total anomalous pulmonary venous return (TAPVR) is a rare congenital cardiac defect that may present with cyanosis, cardiac failure and failure to thrive in infancy. TAPVR type 1 has a typical radiographic appearance of the heart termed the snowman. We present a case of an infant with TAPVR type 1 with injuries in keeping with non-accidental injury (NAI) to highlight that children with chronic diseases are at greater risk of this kind of injury and that radiographic evaluation of the chest in cardiac disease plays a role beyond demonstrating the heart and vasculature of the chest.

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The Vein Of Galen Aneurysmal Malformation Associated With Sinus Venosus Defect And Anomalous Pulmonary Veins

Non Invasive Vascular Investigation ◽

10.24966/nivi-7400/100026 ◽

2020 ◽

Vol 5 (2) ◽

pp. 1-4

Author(s):

Merjema Karavdic ◽

Keyword(s):

Neonatal Period ◽

Pulmonary Veins ◽

Arteriovenous Shunt ◽

Sinus Venosus ◽

Vein Of Galen ◽

Cardiac Defect ◽

Congenital Cardiac Defect ◽

Sinus Venosus Defect

he Vein of Galen Aneurysmal Malformation (VGAM) is a rare cerebral arteriovenous shunt, which may be associated with a congenital cardiac defect. Embolisation of the VGAM is safer in infancy, even it may be undertaken in the neonatal period if necessary.

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Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype

Clinical Genetics ◽

10.1111/j.1399-0004.1994.tb04240.x ◽

2008 ◽

Vol 46 (3) ◽

pp. 268-270 ◽

Cited By ~ 3

Author(s):

M. C. Digilio ◽

R. Mingarelli ◽

B. Marino ◽

A. Giannotti ◽

S. Melchionda ◽

...

Keyword(s):

Cardiac Defect ◽

Congenital Cardiac Defect

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New Technologies for Surgery of the Congenital Cardiac Defect

Rambam Maimonides Medical Journal ◽

10.5041/rmmj.10119 ◽

2013 ◽

Vol 4 (3) ◽

Cited By ~ 14

Author(s):

David Kalfa ◽

Emile Bacha

Keyword(s):

New Technologies ◽

Cardiac Defect ◽

Congenital Cardiac Defect

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Can device closure of AP window be made easy?

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20172287 ◽

2017 ◽

Vol 4 (3) ◽

pp. 861

Author(s):

Chavan Chandrakant ◽

Parkar Matin A. ◽

Badani Rajesh ◽

Pawar Shubhadarshini G.

Keyword(s):

Surgical Repair ◽

Transcatheter Closure ◽

Aortopulmonary Window ◽

Device Closure ◽

Cardiac Defect ◽

Congenital Cardiac Defect ◽

Occluder Device

Aortopulmonary window is an uncommon congenital cardiac defect. Most infants presenting with aortopulmonary window will undergo conventional surgical repair. Experience with transcatheter closure of aortopulmonary window is limited. We report the case of a 5-year-old boy with aortopulmonary window, in whom transcatheter closure was performed successfully using Amplatzer ductal occluder device.

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