|
Printable
version
Cardiovascular Findings Key (opens in new window)
| SYNDROME |
CARDIOVASCULAR
FINDINGS |
COMMON NON-CARDIAC
FINDINGS |
|
Alagille |
PPS, PS, TOF, VSD, ASD, AS, CoA |
liver (cholestasis), craniofacial, neurologic, pancreas, kidney,
eyes, skeletal (vertebrae), growth |
| Barth |
Dil. CMPY,
non-compaction LV (NCLV) |
neuromuscular, immune
(neutropenia), metabolism (mitochondria), growth, developmental
delay |
|
Cat-Eye |
HLHS, TAPVR |
eye
(coloboma of iris), anal atresia w/ fistula, down slanting palpebral
fissures, preauricular tags and/or pits, micrognathia, kidney
(agenesis) |
| CHARGE (acronym) |
Wide variety |
Coloboma (iris &
retina), Heart defects, Atresia choanae, Retardation & renal
defects, Genitalia small in males, Ears cup-shaped & deaf,
tracheoesphageal fistula |
|
Down -Tri 21 |
CAVC, AVSD, VSD, ASD, aberrant subclavian artery, endocardial
cushion defect |
craniofacial, developmental delay, gastrointestinal, respiratory,
eyes, hearing loss, hypothyroid, hypotonia, skeletal, growth,
leukemia |
| Duchenne Muscular
Dystrophy |
CMPY, conduction
defects, MVP |
progressive selective
wasting of skeletal musculature |
|
Edwards (Tri 18) |
Various, VSD, PDA, bicus AoV, bicus PV |
IUGR, polyhydramnios, single umbilical artery, craniofacial,
developmental delay, growth, clenched hand w/ overlapping fingers,
hypotonia, short sternum |
| Ehlers-Danlos
(Multiple types) |
MVP,TVP, Ao dil,
Arterial rupture, ASD |
thin skin,
hyperextensible joints, musculoskeletal, bruising/bleeding, bowel,
chronic pain, hernias |
|
Ellis-Van Creveld |
ASD,
single atrium |
disproportionate short extremities, small chest, postaxial
polydactyly, nail hypoplasia, pelvic dysplasia, teeth |
|
Fabry disease |
ishcemia, myocardial infarction, mitral insufficiency, left
ventricular hypertrophy, cardiomyopathy, Arrhythmias, congestive
heart failure |
pain (acroparathesis), skin/vascular lesions (angiokeratoma,
hypohidrosis/anhidrosis), kidney function/failure, cerebrovascular,
eye (comea, lens, conjunctiva, retina), gastrointestinal, hearing,
pulmonary, psychiatric |
| Friedrich's Ataxia |
CMPY, Conduction
defects |
progressive ataxia,
muscle weakness |
|
Goldenhar's syndrome - Hemifacial Microsomia - Oculoauriculo-vertebral
Dysplasia |
VSD,
PDA, TOF, CoA, ASD |
hemifacial microsomia, vertebrae (hemivertebrae or hypoplasia), ear
malformation, hearing loss, preauricular tags and/or pits, eye,
kidney |
| Heterotaxy (multiple
types) |
Mirror image
arrangement, Complex malformations |
Kartagener's syndrome
: immotile sperm & cilia, abn lung, situs inversus, bronchioectasis,
infertility, conductive deafness |
|
Holt-Oram |
ASD, VSD, Conduction defects |
Ivemark: poly/asplenia, situs, abn lung Lobation, Heinz &
Howell-Jolly bodies (peripheral blood) CNS |
|
Heterotaxy syndrome: situs |
|
upper limb, shoulder girdle, thumb |
| Homocystinuria |
Vascular thrombosis,
Ao dilatation |
inborn error of
metabolism, developmental delay, skeletal (marfanoid habitus), eye
(lens dislocation, myopia) psychiatric, thromboembolism,
osteoporosis |
|
Hurler (MPS I) |
CMPY, valve stenosis/incompetence |
inborn error of metabolism, coarsened facial features, craniofacial,
progressive skeletal dysplasia, developmental delay, eye (corneal
clouding), hearing loss, growth, skeletal, hirsutism, large
liver/spleen |
| Jacobsen |
HLHS, ASD, VSD |
growth, psychomotor
retardation, craniofacial, bilateral camptodactyly, hammer toes,
immune (isoimmune thrombocytopenia) |
|
Jervell-Lange-Nielsen |
Prolonged Q-T interval, sudden death, syncopal attacks |
Sensorineural deafness, seizures |
| Kabuki |
CoA, bicus AoV, MVP,
VSD, PS, AS, MS, TOF, Single V, DORV, TGA |
growth deficiency,
craniofacial, skeletal |
|
LEOPARD (acronym) |
PS,
prolonged PR interval, CMPY |
Lentingines, EKG abnom., Ocular hypertelorism, Pulm sten. Abnorm of
genitalia, Retardation of growth, Deafness |
| Marfan |
Ao dilatation, valve
incompetence, MVP, Ao aneurysm |
skeletal, eye (lens
dislocation), connective tissue |
|
Mitochondrial DNA-Associated Leigh and NARP syndromes |
HOCM |
proximal neurogenic muscle weakness, sensory neuropathy, ataxia,
pigmentary retinopathy |
| Myoclonic Epilepsy
Associated with Ragged-Red Fibers (MERRF) |
CMPY |
myoclonus, epilepsy,
ataxia, weakness, dementia, hearing, short stature, eyes |
|
Myotonic dystrophy |
conduction defects, CMPY, MVP |
myotonia, muscle degeneration, frontal baldness, cataract, ptosis |
| Noonan |
PS, HOCM, ASD |
webbed neck, short
stature, facies, skeletal (pectus), normal chromosomes, ptosis, low
posterior hairline, blood (coagulation and platelets) |
|
Osteogenesis imperfecta (multiple types) |
MVP, Ao regurg., Ao dilatation |
"bone fragility" resulting in multiple fractures, hearing loss,
skeletal (wormian skull bones), growth, craniofacial |
| Patau (Tri 13) |
Various (80%), VSD,
PDA, ASD |
neurological (holoprosencelphaly),
craniofacial, rocker bottom feet, CL/CP, eyes, hearing loss,
polydactyly, hand abnormalities, skeletal |
|
Pompe's disease (Acid Maltase Deficiency) |
Glycogen storage disease of the heart |
inborn error of metabolism, muscle weakness, large liver and tongue |
| Rubinstein-Taybi |
Various, HLHS |
growth, craniofacial,
eyes, skeletal, hirsuitism, broad thumbs and toes |
|
Treacher-Collins |
VSD,
PDA, ASD |
dysplastic ears, hearing loss, jaw hypoplasia, eyes (lower lid
coloboma, absence of lower eyelashes), cleft palate, projection of
scalp hair onto lateral cheek |
| Tuberous sclerosis |
Cardiac tumors (rhabdomyoma),
Arrhythmias |
tumors, seizures,
skin (lesions, depigmentation, café au lait spots), bone, teeth,
kidney, developmental delay, behavior |
|
Turner |
CoA,
bicus AoV, AV stenosis, AS, HLHS, ASD, VSD |
congenital lymphedema, short stature, broad chest w/ widely spaced
nipples, webbed neck, ovarian dysgenesis, kidney, hearing loss |
| VACTERL (acronym) |
Wide variety |
Vertebral anomalies,
Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal
anomalies (kidney), Limb reduction (radial-limb) |
|
VCFS (acronym) also called 22q11, DiGeorge, Shprintzen |
IAA, truncus, TOF/PA, R AoA, aberrant subclavian artery, anom great
vessels & others, VSD |
Velo (palate), Cardio, Facial (ears, nose), thymus, parathyroid,
hypocalcemia, kidney, growth, gastrointestinal, speech, hearing,
development, learning, psychiatric |
| Williams |
SVAS, SVPS, PPS, AS,
PS, CMPY |
cocktail party
personality, elfin facies w/ full lips, eyes (stellate iris
pattern), hypercalcemia, growth, kidney, dental, hearing,
musculoskeletal, learning/attention, developmental delay |
Last Update 07-02-04
[Top pf Page] References
1. Burn, John and Judith Goodship. Principles and Practice of Medical
Genetics. 3rd ed. New York, NY: Churchill Livingstone, 1996.
2. Harper, Peter S. Practical Genetic Counseling. 5th ed. :Reed Educational
and Professional Publishing, 1998
3. Jones, Kenneth L. Smith’s Recognizable Patterns of Human Malformation.
5th ed. Philadelphia, PA: W.B. Saunders Company, 1997
4. Robinson, Arthur and Mary G. Linden. Clinical Genetics Handbook.
Blackwell Scientific Publication, Inc., 1993
5. Website:
OMIM (Online Mendelian Inheritance in Man)
6. Website: Genetests |
