CHD & Related Syndromes

*This is not a complete list and the intended use is for reference only.

Here are some helpful links to get detailed information on the individual names from below 

Boston Children's Hospital and Descriptions of Congenital Heart Defects

Names (Abbreviations)

Anomalous Left Coronary Artery From the Pulmonary Artery (ALCAPA)

Aortic Stenosis (AS)

Aortic Valve Atresia

Atrial Septal Defect (ASD)

Atrioventricular Block (AV Block)

Atrioventricular Canal Defect (AV Canal or AVSD)

Bicuspid Aortic Valve (BAV)

Cayler Syndrome

CCTGA Congenitally Corrected Transposition of the Great Arteries (CCTGA)

CHARGE Syndrome

Cleft Mitral Valve

Coarctation of the Aorta (COA)

Complete Atrioventricular Canal Defect (CAVC or CAVSD)

Complete Congenital Heart Block (CCHB)

Congenital Coronary ArterioVenous Fistula (CCAVF)

Congenital Heart Block (CHB)

Congenitally Corrected Transposition of the Great Vessels (CCTGV)


Dialated Cardiomyopathy (DCM)

DiGeorge Syndrome

Double Aortic Arch (DAA)

Double Chambered Right Ventricle (DCRV)

Double Inlet Left Ventricle (DILV)

Double Outlet Left Ventricle (DOLV)

Double Outlet Right Ventricle (DORV)

Ebstein’s Anomaly (EA)

Ehlers-Danlos Syndrome (EDS)

Eisenmenger Syndrome

Ellis Van Crevald syndrome

Endocardial Fibroelastosis (EF)

Friedreich Ataxia

Hereditary Hemorrhagic Telangiectasia (HHT)

Heterotaxy Syndrome

Holmes Heart

Holt-Oram Syndrome

Hunter Syndrome

Hurler Syndrome

Hutchinson-Gilford Syndrome

Hypertrophic Cardiomyopathy (HCM)

Hypertrophic Obstructive Cardiomyopathy (HOCM)

Hypoplastic Ascending Aorta

Hypoplastic Left Heart Syndrome (HLHS)

Hypoplastic Right Heart Syndrome (HRHS)

Idiopathic Hypertrophic Sub-Aortic Stenosis (IHSS)

Interrupted Inferior Vena Cava

Interupted Aortic Arch (IAA)

Isolated Non-Compaction of Left Ventricular Myocardium (INLVM)

Ivemark Syndrome

Kartagener syndrome

Kawasaki Disease

Left Antrioventricular Valve Atresia (LAV)

Left Atrial Isomerism (LAI)

Left Bundle Branch Block (LBBB)

Left Ventricular Outflow Tract Obstruction (LVOTO)

Leopard Syndrome

Loeys Dietz Syndrome (LDS)

Long QT Syndrome (LQTS)

Lown-Gangong-Levine Syndrome (LGL)

Major Aorta/Pulmonary Collateral Arteries (MAPCA)

Marfan Syndrome

Mitral Valve Prolapse (MVP)

Noonan Syndrome

Osler-Weber-Rendu Syndrome

Paroxysmal Atrial Tachycardia (PAT)

Paroxysmal SupraVentricular Tachycardia (PSVT)

Partially Anomalous Pulmonary Venous Return (PAPVR)

Patent Ductus Arterious (PDA)

Patent Foramen Ovale (PFO)

Persistent Left Superior Vena Cava (LSVC)


Pseudotruncus Arteriosus

Pulmonary Atresia (PA)

Pulmonary Hypertension (PHT)

Pulmonary Stenosis (PS)

Quadricuspid Pulmonary Valve

Right Aortic Arch (RAA)

Right Atrial Isomerism (RAI)

Right Bundle Branch Block (RBBB)

Right Ventricular Outflow Tract Obstruction (RVOTO)

Scimitar Syndrome

Shone Complex (Syndrome)

Shprintzen Syndrome

Single Ventricle (SV)

Smith Magenis Syndrome

Subaortic Stenosis (SubAS)

Supravalvular Aortic Stenosis (SVAS)

SupraVentricular Tachycardia (SVT)

Taussig-Bing Anomaly

Tetralogy of Fallot (TOF)

Thrombocytopenia and Absent Radius (TAR)

Total Anomalous Pulmonary Venous Drainage (TAPVD)

Total Anomalous Pulmonary Venous Return (TAPVR)

Transposition of the Great Arteries (TGA)

Transposition of the Great Vessels (TGV)

Treacher Collins syndrome

Tricuspid Atresia (TA)

Truncus Arteriosis (TA)

Tuberous Sclerosis

Turner Syndrome

Uhl Anomaly

VACTERL Syndrome

VATER Syndrome

Velocardiofacial Syndrome (VCFS)

Ventricular Septal Defect (VSD)

Von Hippel Lindau Syndrome

Williams Syndrome

Wolfe-Parkinson-White Syndrome (WPW)

Zellweger Syndrome

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