CHD:AEPC Nomenclature
From CHDWiki
[edit] Introduction
Congenital heart defects (CHD) are the most frequent form of major birth defects in newborns affecting close to 1% of newborn babies (8 per 1,000). These defects can involve the walls of the heart, the valves of the heart or the arteries and veins near the heart. When confronted with a specific type of CHD, the question rises which genes have already been implicated. Therefore, this Wiki offers a continuously updated overview of all genes implicated in human congenital heart defects, syndromic or not, with their respective phenotype. The congenital heart defects represented in the Wiki, were obtained from the shortlist of the Association for European Pediatric Cardiology (AEPC) [1].
[edit] AEPC Nomenclature [hide CHD without associations]
[edit] Diagnostic congenital and generic cardiac codes
01.03.10 Normal atrial arrangement (situs), AV & VA connections
01.03.00 Usual atrial arrangement (atrial situs solitus)
01.05.00 Concordant VA connections
[edit] Abnormalities of position and connection of heart
02.01.09 Position-orientation of heart abnormal
02.01.02 Dextrocardia: heart predominantly in R hemithorax
03.01.09 Visceral heterotaxy - Position or morphology of thoraco-abdominal organs abnormal
01.03.06 Abnormal atrial arrangement
03.01.03 Total mirror imagery (atrial situs inversus)
03.01.04 Right isomerism ('asplenia')
03.01.05 Left isomerism ('polysplenia')
01.03.09 AV and/or VA connections abnormal
01.01.14 Double inlet ventricle
02.03.05 Solitary ventricle of indeterminate morphology
01.05.01 Discordant VA connections (TGA)
01.01.02 Complete transposition of great arteries (IVS)
01.01.03 Congenitally corrected transposition of great arteries
01.01.17 Double outlet RV - Fallot type
01.01.18 Double outlet RV - transposition type
01.01.19 Double outlet RV - with non-committed VSD
09.01.01 Common arterial trunk
[edit] Tetralogy of Fallot and variants
01.01.06 Pulmonary atresia + VSD (including Fallot type)
01.01.25 Pulmonary atresia + VSD + 'MAPCA'(s)
09.05.25 Absent pulmonary valve syndrome - Fallot-type
09.07.26 Solitary arterial trunk (absent intrapericardial PAs)
09.08.01 Major systemic-to-pulmonary collateral artery (MAPCA)
[edit] Abnormalities of great veins
04.01.00 Superior caval vein (SVC) abnormality
04.01.01 Left SVC persisting to coronary sinus
04.03.00 Inferior caval vein (IVC) abnormality
04.03.10 Azygous continuation of IVC
04.02.00 Hepatic vein abnormality
04.05.00 Systemic vein abnormality - congenital
04.08.00 Pulmonary vein abnormality
04.08.91 Pulmonary vein stenosis
04.08.05 Totally anomalous pulmonary venous connection
04.06.00 Totally anomalous pulmonary venous connection - supracardiac
04.08.10 Totally anomalous pulmonary venous connection - intracardiac
04.08.20 Totally anomalous pulmonary venous connection - infracardiac
04.08.30 Totally anomalous pulmonary venous connection - mixed
04.07.01 Partially anomalous pulmonary venous connection(s)
01.01.16 Partially anomalous pulmonary venous connections: Scimitar syndrome
04.04.00 Coronary sinus abnormality
[edit] Abnormalities of atriums and atrial septum
05.02.01 Cor triatriatum (divided left atrium)
05.03.00 Atrial septum abnormality
05.03.01 Patent foramen ovale (PFO)
05.04.02 ASD within oval fossa (secundum)
05.04.03 Spontaneous closure of ASD within oval fossa (secundum)
05.06.01 Common atrium (virtual absence of atrial septum)
05.05.03 Interatrial communication (ASD) through coronary sinus orifice
[edit] Abnormalities of AV valves and AV septal defect
06.01.00 Tricuspid valvar abnormality
06.01.91 Tricuspid regurgitation
06.01.25 Tricuspid regurgitation - congenital
06.01.03 Tricuspid valvar dysplasia (mucoid thickening)
06.01.09 Straddling tricuspid valve
06.01.34 Ebstein's malformation of tricuspid valve
06.02.00 Mitral valvar abnormality
06.02.25 Mitral regurgitation - congenital
06.02.09 Straddling mitral valve
05.02.02 Supravalvar mitral ring
06.02.35 Mitral valvar prolapse
06.02.36 True cleft of mitral valve
06.02.93 Mitral valve stenosis
06.02.07 Mitral valvar stenosis - congenital
06.02.12 Mitral subvalvar apparatus abnormality
06.02.13 Mitral subvalvar stenosis
06.02.56 Parachute malformation of mitral valve
06.06.00 Atrioventricular septal defect
06.06.01 AVSD: isolated atrial component (primum ASD)
06.06.08 AVSD: isolated ventricular component
06.06.09 AVSD: atrial & ventricular components (complete)
06.06.10 AVSD: atrial & ventricular components + separate AV valves ('intermediate')
06.07.26 AVSD with ventricular imbalance
06.05.01 AVSD AV valvar abnormality
06.05.06 AVSD AV valvar regurgitation
01.01.20 AV septal defect and Tetralogy of Fallot
[edit] Abnormalities of ventricles and ventricular septum
01.01.22 Functionally univentricular heart
07.08.41 Ventricular imbalance: dominant LV + hypoplastic RV
07.08.42 Ventricular imbalance: dominant RV + hypoplastic LV
07.05.01 RV outflow tract obstruction
01.01.09 Hypoplastic left heart syndrome
07.09.01 LV outflow tract obstruction
07.21.00 Intact ventricular septum
07.15.01 Tiny VSD (Maladie de Roger)
07.10.12 VSD + malaligned outlet septum
07.12.01 Doubly committed subarterial VSD
07.14.02 Communication between LV-RA (Gerbode defect)
07.16.01 Spontaneous closure of VSD
07.20.00 Ventricular septal abnormality
07.20.01 Aneurysm of membranous septum
[edit] Abnormalities of VA valves and great arteries
09.04.01 Aortopulmonary window
09.09.08 Pulmonary artery from ascending aorta (hemitruncus)
09.02.00 Truncal valvar abnormality
09.02.03 Truncal valvar regurgitation
07.05.30 Subpulmonary stenosis
09.05.00 Pulmonary valvar abnormality
09.05.01 Pulmonary valvar stenosis
09.05.04 Pulmonary valvar stenosis - congenital
09.05.91 Pulmonary regurgitation
09.05.22 Pulmonary regurgitation - congenital
09.05.12 Pulmonary atresia - imperforate valve
01.01.07 Pulmonary atresia + intact ventricular septum
09.45.11 Coronary fistulas from RV ('sinusoidal')
09.46.06 RV dependent coronary circulation
09.07.00 Pulmonary trunk (MPA) abnormality
09.07.13 Supravalvar pulmonary trunk stenosis
09.07.11 Pulmonary trunk hypoplasia
09.10.00 Pulmonary arterial abnormality
09.10.01 Pulmonary arterial stenosis
09.10.07 Central pulmonary arterial stenosis - proximal to hilar bifurcation
09.10.06 Peripheral pulmonary arterial stenoses - at/beyond hilar bifurcation
09.10.11 Pulmonary arterial hypoplasia
09.10.10 Discontinuous (non-confluent) pulmonary arteries
09.10.44 Pulmonary arterial aneurysm
07.09.03 Subaortic stenosis due to fibromuscular shelf
09.15.00 Aortic valvar abnormality
09.15.13 Aortic valvar stenosis
09.15.01 Aortic valvar stenosis - congenital
09.15.12 Eccentric opening of tricuspid aortic valve
09.15.07 Aortic regurgitation - congenital
09.15.22 Bicuspid aortic valve
09.15.03 Aortic valvar atresia
09.15.30 Aortic valvar prolapse
09.16.10 Ascending aorta abnormality
09.16.02 Ascending aorta hypoplasia
09.16.00 Supravalvar aortic stenosis
09.16.09 Ascending aorta dilation
09.16.05 Ascending aorta dilation associated with Marfan syndrome
09.18.01 Aortic sinus of Valsalva aneurysm
09.28.00 Aortic arch abnormality
09.29.11 Aortic arch hypoplasia (tubular)
09.29.31 Interrupted aortic arch
09.30.00 Aortic arch branch abnormality
09.30.02 Aberrant origin R subclavian artery
09.09.06 Pulmonary arterial sling
09.28.16 Descending aorta dilation
09.29.16 Descending/ abdominal aorta hypoplasia (middle aortic syndrome)
[edit] Abnormalities of coronary arteries, arterial duct and pericardium
09.46.00 Coronary arterial abnormality
09.41.01 Anomalous origin of coronary artery from pulmonary artery
09.42.00 Coronary artery: anomalous aortic origin / course
09.46.01 Coronary arterial aneurysm(s)
09.27.00 Arterial duct (ductus arteriosus) abnormality
09.27.21 Patent arterial duct (PDA)
09.19.01 Arteriovenous fistula
09.19.05 Pulmonary arteriovenous fistula
09.20.20 Distal systemic arterial abnormality
10.01.00 Pericardial abnormality
01.01.39 Cardiac abnormality (DESCRIBE)
[edit] Heart muscle disease & cardiomyopathies
07.06.11 LV myocardial non-compaction
07.01.12 RV myocardial non-compaction
10.10.20 Hypertrophic cardiomyopathy
10.10.22 Concentric hypertrophy
10.10.25 Dilated cardiomyopathy
07.01.10 Arrhythmogenic RV cardiomyopathy
10.10.12 Endocardial fibroelastosis
[edit] Rhytm and conduction disturbances
11.01.00 Supraventricular tachycardia
11.02.03 Sinus node dysfunction (sick sinus)
11.02.17 Wandering atrial pacemaker
11.02.12 Sinus nodal re-entry tachycardia
11.07.01 WPW (Wolff-Parkinson-White)
11.03.21 Premature atrial complexes
11.04.11 AV nodal re-entry tachycardia
11.05.10 Ventricular fibrillation
11.05.44 Brugada syndrome (ventricular tachycardia with anterior raised ST)
11.05.21 Premature ventricular complexes
11.06.04 Mobitz I 2nd degree AV block (Wenckebach)
11.06.05 Mobitz II 2nd degree AV block
11.06.06 Advanced Mobitz II 2nd degree AV block
11.06.11 Atrioventricular dissociation
11.06.23 Complete R bundle branch block
11.06.24 Complete L bundle branch block
