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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
Substance
CAS Registry & name
Categories
Source
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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