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

2022 ◽  
Author(s):  
Hanadi A. Abdelrahman ◽  
Nadia Akawi ◽  
Aisha M. Al‐Shamsi ◽  
Amanat Ali ◽  
Fatma Al‐Jasmi ◽  
...  
Keyword(s):  
Matrix Metalloproteinase ◽  
Failure To Thrive ◽  
Cardiac Defect ◽  
Congenital Cardiac Defect

scholarly journals P31.07: Maternal complex congenital cardiac defect and fetal tachyarrhythmia

2008 ◽  
Vol 32 (3) ◽  
pp. 419-419
Author(s):  
M. Small ◽  
L. R. Brancazio ◽  
M. Decker ◽  
B. K. Boyd ◽  
B. Fitzpatrick ◽  
...  
Keyword(s):  
Cardiac Defect ◽  
Congenital Cardiac Defect ◽  
Fetal Tachyarrhythmia

Distal femoral duplication and fibular agenesis associated with congenital cardiac defect

2009 ◽  
Vol 77 (2) ◽  
pp. 210-211 ◽  
Author(s):  
Murat Cakir ◽  
Lies H. Hoefsloot ◽  
Fazil Orhan ◽  
Yusuf Gedik ◽  
Figen Celep ◽  
...  
Keyword(s):  
Cardiac Defect ◽  
Congenital Cardiac Defect

scholarly journals The injured snowman

2011 ◽  
Vol 15 (1) ◽  
pp. 26
Author(s):  
N Mahomed ◽  
M Goodier ◽  
M Modi ◽  
S Andronikou
Keyword(s):  
Cardiac Disease ◽  
Venous Return ◽  
Failure To Thrive ◽  
Radiographic Evaluation ◽  
Cardiac Defect ◽  
Accidental Injury ◽  
Radiographic Appearance ◽  
Anomalous Pulmonary Venous Return ◽  
Non Accidental Injury

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.

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

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.

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

2008 ◽  
Vol 46 (3) ◽  
pp. 268-270 ◽  
Author(s):  
M. C. Digilio ◽  
R. Mingarelli ◽  
B. Marino ◽  
A. Giannotti ◽  
S. Melchionda ◽  
...  
Keyword(s):  
Cardiac Defect ◽  
Congenital Cardiac Defect

scholarly journals Can device closure of AP window be made easy?

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.

Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

2008 ◽  
Vol 17 (4) ◽  
pp. 179-182 ◽  
Author(s):  
Wei-Ren Su ◽  
Ping-Hui Wang ◽  
Jenn-Dong Lian ◽  
Mark Chii-Jeng Lin
Keyword(s):  
Cardiac Defect ◽  
Vaginal Atresia ◽  
Congenital Cardiac Defect

A Case with Weaver Syndrome Operated for Congenital Cardiac Defect

1999 ◽  
Vol 20 (5) ◽  
pp. 375-376 ◽  
Author(s):  
A. Sarigül ◽  
M. Yilmaz ◽  
Ş. Ateş ◽  
Y. Yurdakul
Keyword(s):  
Cardiac Defect ◽  
Congenital Cardiac Defect ◽  
Weaver Syndrome
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