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Heart Defects, Congenital

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Definition: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.  general only; do not use as coordinate for specific term /abnorm; cyanotic defects probably go here but do not also index under CYANOSIS unless especially discussed   
Examples 22q11 Deletion Syndrome; Alagille Syndrome; Aortic Coarctation; Arrhythmogenic Right Ventricular Dysplasia; Barth Syndrome; Cor Triatriatum; Coronary Vessel Anomalies; Crisscross Heart; Dextrocardia; Ductus Arteriosus, Patent; Ebstein Anomaly; Ectopia Cordis; Eisenmenger Complex; Heart Septal Defects; Heterotaxy Syndrome; Hypoplastic Left Heart Syndrome; Isolated Noncompaction of the Ventricular Myocardium; LEOPARD Syndrome; Levocardia; Marfan Syndrome; Noonan Syndrome; Tetralogy of Fallot; Transposition of Great Vessels; Tricuspid Atresia; Trilogy of Fallot; Turner Syndrome 		Other names Heart Abnormalities; Heart Abnormality; Defect, Congenital Heart; Abnormalities, Heart; Heart Defect, Congenital; Defects, Congenital Heart; Congenital Heart Defects; Congenital Heart Defect; Abnormality, Heart
 
SubstanceCAS Registry & nameCategoriesSource
Powell Chandra Saal syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius/abnormalities Vertebrates/abnormalities.
Ho Kaufman Mcalister syndrome  0   *Abnormalities, Drug-Induced *Abnormalities, Multiple/chemically induced *Bone Diseases *Cleft Palate *Heart Defects, Congenital *Hip Dislocation, Congenital *Micrognathism. Am J Dis Child 129(6):714-6
Hittner Hirsch Kreh syndrome  0   *Abnormalities, Multiple *Coloboma *Hearing Loss, Sensorineural *Heart Defects, Congenital *Intellectual Disability *Microphthalmos Ear/abnormalities.
McPherson Clemens syndrome  0   *Abnormalities, Multiple *Cleft Lip *Cleft Palate *Heart Defects, Congenital *Facies *Intestinal Volvulus.
McKusick Kaufman syndrome  0   *Polydactyly *Abnormalities, Multiple *Heart Defects, Congenital *Uterine Diseases *Hydrocolpos.
McDonough syndrome  0   *Abnormalities, Multiple *Cryptorchidism *Heart Defects, Congenital *Kyphosis *Intellectual Disability *Facies Rectus Abdominis/abnormalities.
Baetz-Greenwalt syndrome  0   *Cleft Palate *Heart Defects, Congenital *Microcephaly *Micrognathism Ear, External.
Oculofaciocardiodental syndrome  0   *Cataract *Heart Defects, Congenital *Microphthalmos Brain/abnormalities.
Genito palato cardiac syndrome  0   *Cleft Palate *Gonadal Dysgenesis, 46,XY *Heart Defects, Congenital *Micrognathism.
Gay Feinmesser Cohen syndrome  0   *Growth Disorders *Heart Defects, Congenital Glottis/abnormalities.
Beemer Ertbruggen syndrome  0   *Facies *Heart Defects, Congenital *Hydrocephalus Bone and Bones/abnormalities Genitalia, Male/abnormalities.
Bixler Christian Gorlin syndrome  0   *Cleft Lip *Cleft Palate *Ear Deformities, Acquired *Heart Defects, Congenital *Microcephaly Kidney/abnormalities.
Jarcho-Levin syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Hernia, Diaphragmatic.
Microcephaly seizures mental retardation heart disorders  0   *Abnormalities, Multiple *Heart Defects, Congenital *Intellectual Disability *Microcephaly *Seizures Bone and Bones/abnormalities.
Kozlowski Celermajer Tink syndrome  0   *Dysostoses *Heart Defects, Congenital *Osteochondrodysplasias Spine/abnormalities Sulfotransferases/deficiency.
Burn-Mckeown syndrome  0   *Choanal Atresia *Deafness/congenital *Heart Defects, Congenital *Facies.
Pilotto syndrome  0   *Abnormalities, Multiple *Cleft Lip *Cleft Palate *Growth Disorders *Heart Defects, Congenital *Intellectual Disability *Scoliosis.
Simpson-Golabi-Behmel syndrome  0   *Arrhythmias, Cardiac *Gigantism *Heart Defects, Congenital *Intellectual Disability.
Ter Haar syndrome  0   *Heart Defects, Congenital *Osteochondrodysplasias/congenital *Craniofacial Abnormalities Developmental Disabilities.
Sacral meningocele conotruncal heart defects  0   *Meningomyelocele *Abnormalities, Multiple *Heart Defects, Congenital.
Saal Bulas syndrome  0   *Abnormalities, Multiple *Hand Deformities, Congenital *Heart Defects, Congenital *Hernia, Diaphragmatic *Agenesis of Corpus Callosum.
Orstavik Lindemann Solberg syndrome  0   *Hamartoma *Heart Defects, Congenital *Syndactyly *Tongue Neoplasms.
Lowry Maclean syndrome  0   *Abnormalities, Multiple *Cleft Palate *Craniosynostoses *Diaphragmatic Eventration *Glaucoma *Growth Disorders *Heart Defects, Congenital *Intellectual Disability *Osteogenesis Imperfecta.
Kasznica Carlson Coppedge syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Retrognathism *Spina Bifida Cystica Ear, External/abnormalities Palate/abnormalities Toes/abnormalities Umbilical Arteries/abnormalities.
TARP syndrome  0   *Clubfoot *Heart Defects, Congenital *Pierre Robin Syndrome.
Uhl anomaly  0   *Cardiomyopathy, Dilated *Heart Defects, Congenital.
Tamari Goodman syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Intellectual Disability *Hereditary Sensory and Motor Neuropathy *Upper Extremity Deformities, Congenital.
Tabatznik syndrome  0   *Hand Deformities, Congenital *Heart Defects, Congenital.
Zunich neuroectodermal syndrome  0   *Coloboma *Hearing Loss, Conductive *Heart Defects, Congenital *Ichthyosis *Intellectual Disability.
Sonoda syndrome  0   *Growth Disorders *Heart Defects, Congenital *Craniofacial Abnormalities.
Verloove-Vanhorick Brubakk syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Pregnancy in Diabetics Bone and Bones/abnormalities Ear/abnormalities.
Ventricular extrasystoles perodactyly Robin sequence  0   *Hand Deformities, Congenital *Heart Defects, Congenital *Pierre Robin Syndrome.
VATER association  0   *Anus, Imperforate *Heart Defects, Congenital Esophagus/abnormalities Radius/abnormalities Spine/abnormalities Trachea/abnormalities.
VACTERL hydrocephaly  0   *Heart Defects, Congenital *Hydrocephalus *Limb Deformities, Congenital Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
VACTERL association with hydrocephaly, X-linked  0   *Hydrocephalus *Heart Defects, Congenital *Limb Deformities, Congenital *Genetic Diseases, X-Linked Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
Thomas syndrome  0   *Abnormalities, Multiple *Cleft Lip *Heart Defects, Congenital Kidney/abnormalities Palate/abnormalities.
VACTERL association  0   *Heart Defects, Congenital *Limb Deformities, Congenital Anal Canal/abnormalities Esophagus/abnormalities Kidney/abnormalities Spine/abnormalities Trachea/abnormalities.
Faciocardiorenal syndrome  0   *Cleft Palate *Heart Defects, Congenital Kidney/abnormalities.
Blepharophimosis syndrome Ohdo type  0   *Abnormalities, Multiple *Blepharoptosis *Heart Defects, Congenital *Intellectual Disability *Blepharophimosis.
Ellis Yale Winter syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Microcephaly Kidney/abnormalities Lung/abnormalities.
Ectrodactyly cardiopathy dysmorphism  0   *Abnormalities, Multiple *Heart Defects, Congenital *Facies *Lower Extremity Deformities, Congenital.
Mehta Lewis Patton syndrome  0   *Anodontia *Blepharoptosis *Craniosynostoses *Heart Defects, Congenital.
Hydrolethalus syndrome  0   *Hand Deformities, Congenital *Heart Defects, Congenital *Hydrocephalus.
Marcus Gunn phenomenon  0   *Blepharoptosis *Heart Defects, Congenital *Jaw Abnormalities *Nervous System Diseases *Reflex, Abnormal.
Rommen Mueller Sybert syndrome  0   *Dwarfism *Growth Disorders *Heart Defects, Congenital *Craniofacial Abnormalities.
Hecht Scott syndrome  0   *Abnormalities, Multiple *Hand Deformities, Congenital *Heart Defects, Congenital *Craniofacial Abnormalities.
Heart-hand syndrome, Spanish type  0   *Heart Defects, Congenital *Brachydactyly.
Heart-hand syndrome, Slovenian type  0   *Hand Deformities, Congenital *Heart Defects, Congenital.
Heart defects limb shortening  0   *Abnormalities, Multiple *Heart Defects, Congenital *Limb Deformities, Congenital.
Pseudodiastrophic dysplasia  0   *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.
Emanuel syndrome  0   *Cleft Palate *Heart Defects, Congenital *Intellectual Disability *Muscle Hypotonia *Chromosome Disorders.
Malpuech facial clefting syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Craniofacial Abnormalities Developmental Disabilities.
Right ventricle hypoplasia  0   *Heart Defects, Congenital Heart Ventricles/abnormalities.
Familial anomalous origin of right pulmonary artery  0   *Heart Defects, Congenital Pulmonary Artery/abnormalities.
Al Gazali Aziz Salem syndrome  0   *Abnormalities, Multiple *Heart Defects, Congenital *Intellectual Disability *Facies.
Cardiofaciocutaneous syndrome  0   *Ectodermal Dysplasia *Failure to Thrive *Heart Defects, Congenital *Facies.
Cardiocranial syndrome  0   *Acrocephalosyndactylia *Heart Defects, Congenital.
Cardioauditory syndrome of Sanchez Cascos  0   *Deafness *Heart Defects, Congenital.
Cardiac valvular dysplasia, X-linked  0   *Heart Defects, Congenital *Mitral Valve Prolapse *Myxoma *Genetic Diseases, X-Linked.
Conotruncal cardiac defects  0   *Heart Defects, Congenital.
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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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