Rare diseases that primarily involve the cardiac & cardiovascular system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 383 conditions · last built 2026-08-30.
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A62
- Acrocardiofacial Syndrome
- ACTN2-Related Cardiac And Skeletal Myopathy
- Alcoholic Cardiomyopathy
- Andersen Tawil Syndrome
- Aortic Aneurysm, Familial Abdominal, 1
- Aortic Aneurysm, Familial Abdominal, 2
- Aortic Aneurysm, Familial Abdominal, 3
- Aortic Aneurysm, Familial Abdominal, 4
- Aortic Aneurysm, Familial Thoracic 10
- Aortic Aneurysm, Familial Thoracic 12
- Aortic Aneurysm, Familial Thoracic 2
- Aortic Aneurysm, Familial Thoracic 4
- Aortic Aneurysm, Familial Thoracic 6
- Aortic Aneurysm, Familial Thoracic 7
- Aortic Aneurysm, Familial Thoracic 8
- Aortic Aneurysm, Familial Thoracic 9
- Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
- Aortic Arch Defects
- Aortic Arch Interruption
- Aortic Valve Atresia
- Aortic Valve Disease 1
- Aortic Valve Disease 2
- Aortic Valve Disease 3
- Aortic Valve Dysplasia
- Aorto-Left Ventricular Tunnel
- Aorto-Right Ventricular Tunnel
- Aorto-Ventricular Tunnel
- Arrhythmogenic Cardiomyopathy With Wooly Hair And Keratoderma
- Arrhythmogenic Right Ventricular Cardiomyopathy
- Arrhythmogenic Right Ventricular Dysplasia 1
- Arrhythmogenic Right Ventricular Dysplasia 10
- Arrhythmogenic Right Ventricular Dysplasia 11
- Arrhythmogenic Right Ventricular Dysplasia 12
- Arrhythmogenic Right Ventricular Dysplasia 13
- Arrhythmogenic Right Ventricular Dysplasia 3
- Arrhythmogenic Right Ventricular Dysplasia 4
- Arrhythmogenic Right Ventricular Dysplasia 5
- Arrhythmogenic Right Ventricular Dysplasia 6
- Arrhythmogenic Right Ventricular Dysplasia 8
- Arrhythmogenic Right Ventricular Dysplasia 9
- Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
- Atrial Septal Defect 1
- Atrial Septal Defect 2
- Atrial Septal Defect 3
- Atrial Septal Defect 4
- Atrial Septal Defect 5
- Atrial Septal Defect 6
- Atrial Septal Defect 7
- Atrial Septal Defect 8
- Atrial Septal Defect 9
- Atrial Septal Defect, Ostium Primum Type
- Atrial Septal Defect, Ostium Secundum Type
- Atrial Septal Dilatation
- Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
- Atrioventricular Septal Defect
- Atrioventricular Septal Defect 4
- Atrioventricular Septal Defect 5
- Atypical Coarctation Of Aorta
- Autoimmune Cardiomyopathy
- Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
- Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2X
- Autosomal Recessive Severe Congenital Neutropenia Due To G6PC3 Deficiency
B3
C73
- Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome
- Cardiac Anomalies-Heterotaxy Syndrome
- Cardiac Anomalies-Short Stature-Joint Hypermobility-Facial Dysmorphism Syndrome Due To TAB2 Mutation
- Cardiac Arrhythmia, Ankyrin-B-Related
- Cardiac Diverticulum
- Cardiac Germ Cell Tumor
- Cardiac Granular Cell Neoplasm
- Cardiac Lipidosis, Familial
- Cardiac Malformation, Cleft Lip/palate, Microcephaly, And Digital Anomalies
- Cardiac Rhabdomyoma
- Cardiac Sarcoidosis
- Cardiac Sarcoma
- Cardiac Tuberculosis
- Cardiac Valvular Dysplasia, X-Linked
- Cardiac-Urogenital Syndrome
- Cardiomyopathy Due To Anthracyclines
- Cardiomyopathy, Dilated, 100
- Cardiomyopathy, Dilated, 1LL
- Cardiomyopathy, Dilated, 1MM
- Cardiomyopathy, Dilated, 1QQ
- Cardiomyopathy, Dilated, 2c
- Cardiomyopathy, Dilated, 2D
- Cardiomyopathy, Dilated, 2E
- Cardiomyopathy, Dilated, 2F
- Cardiomyopathy, Dilated, 2G
- Cardiomyopathy, Dilated, 2H
- Cardiomyopathy, Dilated, 2I
- Cardiomyopathy, Dilated, 2j
- Cardiomyopathy, Dilated, 2K
- Cardiomyopathy, Dilated, 2l
- Cardiomyopathy, Dilated, 2M
- Cardiomyopathy, Dilated, With Wooly Hair, Keratoderma, And Tooth Agenesis
- Cardiomyopathy, Familial Hypertrophic 27
- Cardiomyopathy, Familial Hypertrophic, 23, With Or Without Ventricular Noncompaction
- Cardiomyopathy, Familial Hypertrophic, 28
- Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
- Cardiomyopathy, Familial Hypertrophic, 30, Atrial
- Cardiomyopathy, Familial Hypertrophic, 31
- Cardiomyopathy, Familial Restrictive, 1
- Cardiomyopathy, Familial Restrictive, 2
- Cardiomyopathy, Familial Restrictive, 3
- Cardiomyopathy, Familial Restrictive, 5
- Cardiomyopathy, Familial Restrictive, 6
- Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
- Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- Catecholaminergic Polymorphic Ventricular Tachycardia 1
- Catecholaminergic Polymorphic Ventricular Tachycardia 2
- Catecholaminergic Polymorphic Ventricular Tachycardia 3
- Catecholaminergic Polymorphic Ventricular Tachycardia 4
- Catecholaminergic Polymorphic Ventricular Tachycardia 5
- CBL-Related Disorder
- Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
- Chagas Cardiomyopathy
- Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
- Cirrhotic Cardiomyopathy
- Common Arterial Trunk With Aortic Dominance
- Common Arterial Trunk With Pulmonary Dominance And Interrupted Aortic Arch
- Complete Atrioventricular Canal
- Complete Atrioventricular Canal-Left Heart Obstruction Syndrome
- Complete Atrioventricular Canal-Tetralogy Of Fallot Syndrome
- Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome
- Congenital Anomaly Of The Great Arteries
- Congenital Aortic Valve Insufficiency
- Congenital Aortic Valve Stenosis
- Congenital Gerbode Defect
- Congenital Heart Block
- Congenital Long QT Syndrome
- Congenital Vertebral-Cardiac-Renal Anomalies Syndrome
- Congenitally Corrected Transposition Of The Great Arteries
- Congenitally Uncorrected Transposition Of The Great Arteries With Cardiac Malformation
- Coronary Sinus Atrial Septal Defect
- Criss-Cross Heart
D48
- Dextro-Transposition Of The Great Vessels With Intact Ventricular Septum
- Dextro-Transposition Of The Great Vessels With Ventricular Septal Defect
- Dilated Cardiomyopathy 1A
- Dilated Cardiomyopathy 1AA
- Dilated Cardiomyopathy 1B
- Dilated Cardiomyopathy 1BB
- Dilated Cardiomyopathy 1C
- Dilated Cardiomyopathy 1CC
- Dilated Cardiomyopathy 1D
- Dilated Cardiomyopathy 1DD
- Dilated Cardiomyopathy 1E
- Dilated Cardiomyopathy 1EE
- Dilated Cardiomyopathy 1FF
- Dilated Cardiomyopathy 1G
- Dilated Cardiomyopathy 1GG
- Dilated Cardiomyopathy 1H
- Dilated Cardiomyopathy 1HH
- Dilated Cardiomyopathy 1I
- Dilated Cardiomyopathy 1II
- Dilated Cardiomyopathy 1J
- Dilated Cardiomyopathy 1JJ
- Dilated Cardiomyopathy 1K
- Dilated Cardiomyopathy 1KK
- Dilated Cardiomyopathy 1L
- Dilated Cardiomyopathy 1M
- Dilated Cardiomyopathy 1NN
- Dilated Cardiomyopathy 1O
- Dilated Cardiomyopathy 1P
- Dilated Cardiomyopathy 1Q
- Dilated Cardiomyopathy 1R
- Dilated Cardiomyopathy 1S
- Dilated Cardiomyopathy 1U
- Dilated Cardiomyopathy 1V
- Dilated Cardiomyopathy 1W
- Dilated Cardiomyopathy 1X
- Dilated Cardiomyopathy 1Y
- Dilated Cardiomyopathy 1Z
- Dilated Cardiomyopathy 2A
- Dilated Cardiomyopathy 2B
- Dilated Cardiomyopathy 3B
- Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
- Discrete Fibromuscular Subaortic Stenosis
- Discrete Subaortic Stenosis
- Double Inlet Left Ventricle
- Double Outlet Right Ventricle With Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy
- Double Outlet Right Ventricle With Non-Committed Subpulmonary Ventricular Septal Defect
- Double Outlet Right Ventricle With Subaortic Or Doubly Committed Ventricular Septal Defect
- Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
E7
F14
- Familial Abdominal Aortic Aneurysm
- Familial Atrioventricular Septal Defect
- Familial Bicuspid Aortic Valve
- Familial Cardiomyopathy
- Familial Isolated Arrhythmogenic Right Ventricular Dysplasia
- Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form
- Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form
- Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form
- Familial Isolated Dilated Cardiomyopathy
- Familial Restrictive Cardiomyopathy
- Familial Thoracic Aortic Aneurysm And Aortic Dissection
- Familial Ventricular Tachycardia
- Fatal Infantile Encephalocardiomyopathy
- Fixed Subaortic Stenosis
G3
H30
- Hamel Cerebro-Palato-Cardiac Syndrome
- Heart-Hand Syndrome, Slovenian Type
- Heterotopia, Periventricular, Associated With Chromosome 5P Anomalies
- Heterotopia, Periventricular, X-Linked Dominant
- Histiocytoid Cardiomyopathy
- Hypertrophic Cardiomyopathy 1
- Hypertrophic Cardiomyopathy 10
- Hypertrophic Cardiomyopathy 11
- Hypertrophic Cardiomyopathy 12
- Hypertrophic Cardiomyopathy 13
- Hypertrophic Cardiomyopathy 14
- Hypertrophic Cardiomyopathy 15
- Hypertrophic Cardiomyopathy 16
- Hypertrophic Cardiomyopathy 17
- Hypertrophic Cardiomyopathy 18
- Hypertrophic Cardiomyopathy 19
- Hypertrophic Cardiomyopathy 2
- Hypertrophic Cardiomyopathy 20
- Hypertrophic Cardiomyopathy 21
- Hypertrophic Cardiomyopathy 25
- Hypertrophic Cardiomyopathy 26
- Hypertrophic Cardiomyopathy 3
- Hypertrophic Cardiomyopathy 4
- Hypertrophic Cardiomyopathy 6
- Hypertrophic Cardiomyopathy 7
- Hypertrophic Cardiomyopathy 8
- Hypertrophic Cardiomyopathy 9
- Hypertrophic Cardiomyopathy And Renal Tubular Disease Due To Mitochondrial DNA Mutation
- Hypertrophic Cardiomyopathy Due To Intensive Athletic Training
- Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
I11
- Idiopathic Cardiomyopathy
- Immunodeficiency 93 And Hypertrophic Cardiomyopathy
- Incessant Infant Ventricular Tachycardia
- Infantile Hypertrophic Cardiomyopathy Due To MRPL44 Deficiency
- Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
- Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
- Interventricular Septum Aneurysm
- Intraventricular Meningioma
- Intrinsic Cardiomyopathy
- Isolated Right Ventricular Hypoplasia
- Isotretinoin-Like Syndrome
J1
L35
- Laubry-Pezzi Syndrome
- Left Aortic Arch With Retroesophageal Diverticulum Of Kommerell
- Left Ventricular Noncompaction
- Left Ventricular Noncompaction 1
- Left Ventricular Noncompaction 10
- Left Ventricular Noncompaction 2
- Left Ventricular Noncompaction 4
- Left Ventricular Noncompaction 5
- Left Ventricular Noncompaction 7
- Left Ventricular Noncompaction 8
- Left Ventricular Noncompaction 9
- Leigh Syndrome With Cardiomyopathy
- Lethal Congenital Glycogen Storage Disease Of Heart
- Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome
- Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
- Limb Transversal Defect-Cardiac Anomaly Syndrome
- Lipoatrophy With Diabetes, Leukomelanodermic Papules, Liver Steatosis, And Hypertrophic Cardiomyopathy
- Loeys-Dietz Syndrome
- Long QT Syndrome
- Long QT Syndrome 1
- Long QT Syndrome 10
- Long QT Syndrome 11
- Long QT Syndrome 12
- Long QT Syndrome 13
- Long QT Syndrome 14
- Long QT Syndrome 15
- Long QT Syndrome 16
- Long QT Syndrome 2
- Long QT Syndrome 3
- Long QT Syndrome 4
- Long QT Syndrome 5
- Long QT Syndrome 6
- Long QT Syndrome 8
- Long QT Syndrome 9
- Lymphedema-Atrial Septal Defects-Facial Changes Syndrome
M11
- Malignant Cardiac Germ Cell Tumor
- Malignant Cardiac Peripheral Nerve Sheath Neoplasm
- Maternally-Inherited Cardiomyopathy And Hearing Loss
- Matthew-Wood Syndrome
- Microcephalus Cardiomyopathy Syndrome
- Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
- Microcephaly-Cerebellar Hypoplasia-Cardiac Conduction Defect Syndrome
- Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To MTO1 Deficiency
- Mobitz II Atrioventricular Block
- Muscular Dystrophy, Cardiac Type
- Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
N30
- Nathalie Syndrome
- Naxos Disease
- Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome
- Neoplasm Of Aortic Body
- Neurodevelopmental Disorder With Relative Macrocephaly And With Or Without Cardiac Or Endocrine Anomalies
- Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome
- Neurofibromatosis-Noonan Syndrome
- Non-Compaction Cardiomyopathy
- Non-Familial Dilated Cardiomyopathy
- Non-Familial Restrictive Cardiomyopathy
- Noonan Syndrome
- Noonan Syndrome 1
- Noonan Syndrome 10
- Noonan Syndrome 11
- Noonan Syndrome 12
- Noonan Syndrome 13
- Noonan Syndrome 14
- Noonan Syndrome 2
- Noonan Syndrome 3
- Noonan Syndrome 4
- Noonan Syndrome 5
- Noonan Syndrome 6
- Noonan Syndrome 7
- Noonan Syndrome 8
- Noonan Syndrome 9
- Noonan Syndrome And Noonan-Related Syndrome
- Noonan Syndrome With Multiple Lentigines
- Noonan Syndrome-Like Disorder With Loose Anagen Hair
- Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
- Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
O4
P22
- Paroxysmal Familial Ventricular Fibrillation
- Partial Atrioventricular Canal
- Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
- Peripartum Cardiomyopathy
- Periventricular Heterotopia With Microcephaly, Autosomal Recessive
- Periventricular Nodular Heterotopia
- Periventricular Nodular Heterotopia 6
- Periventricular Nodular Heterotopia 7
- Periventricular Nodular Heterotopia 8
- Periventricular Nodular Heterotopia 9
- Persistent Fifth Aortic Arch
- Persistent Truncus Arteriosus
- Polysyndactyly-Cardiac Malformation Syndrome
- Primary Adult Heart Tumor
- Primary Dilated Cardiomyopathy
- Primary Familial Dilated Cardiomyopathy
- Primary Pediatric Heart Tumor
- PRKAG2-Related Cardiomyopathy
- Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
- Pulmonary Atresia With Intact Ventricular Septum
- Pulmonary Atresia With Ventricular Septal Defect
- Pulmonary Valve Agenesis-Ventricular Septal Defect-Persistent Ductus Arteriosus Syndrome
R4
S8
- Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome
- Sinus Venosus Atrial Septal Defect
- Subaortic Course Of Innominate Vein
- Subaortic Stenosis, Membranous
- Subaortic Stenosis-Short Stature Syndrome
- Subvalvular Aortic Stenosis
- Sudden Cardiac Failure, Infantile
- Supravalvar Aortic Stenosis
T5
U2
V9
- VATER Association
- Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
- Ventricular Fibrillation, Paroxysmal Familial, 2
- Ventricular Fibrillation, Paroxysmal Familial, Type 1
- Ventricular Tachycardia, Catecholaminergic Polymorphic 6
- Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
- Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
- Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
- Viral Dilated Cardiomyopathy