GTR Home > Conditions/Phenotypes > Supravalvar aortic stenosis

Summary

Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others ... never experience symptoms of the disorder. [from GHR] more

Available tests

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Associated genes

Clinical features

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  • Amblyopia
  • Cardiomegaly
  • Umbilical hernia
  • Hypercalcemia
  • Proteinuria
  • Precocious puberty
  • Strabismus
  • Hyperreflexia
  • Renal hypoplasia
  • Glucose intolerance
  • Hypertonia
  • Irregular heart beat
  • High forehead
  • Premature graying of hair
  • Short stature
  • Broad nasal tip
  • Sacral dimple
  • Poor coordination
  • Epicanthus
  • Adducted thumb
  • Obsessive-compulsive trait
  • Vesicoureteral reflux
  • Gait imbalance
  • Hypoplastic toenails
  • Narrow face
  • Recurrent otitis media
  • Narrow forehead
  • Gait disturbance
  • Pointed chin
  • Intellectual disability
  • Retinal arteriolar tortuosity
  • Soft skin
  • Arnold-Chiari malformation
  • Kyphosis
  • Microcephaly
  • Hallux valgus
  • Vertebral segmentation defect
  • Stroke
  • Microdontia
  • Intrauterine growth retardation
  • Coarse facial features
  • Broad forehead
  • Peripheral pulmonary artery stenosis
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Renal hypoplasia/aplasia
  • Arnold-Chiari type I malformation
  • Low-set, posteriorly rotated ears
  • Open mouth
  • Prematurely aged appearance
  • Periorbital fullness
  • Malar flattening
  • Ventricular septal defect
  • Macrotia
  • Incoordination
  • Long philtrum
  • Recurrent respiratory infections
  • Full cheeks
  • Micrognathia
  • Failure to thrive in infancy
  • Carious teeth
  • Cataract
  • Glaucoma
  • Anxiety
  • Arthralgia
  • Constipation
  • Malabsorption
  • Obesity
  • Insomnia
  • Osteopenia
  • Sudden cardiac death
  • Tremor
  • Reduced bone mineral density
  • Feeding difficulties in infancy
  • Hypothyroidism
  • Osteoporosis
  • Recurrent urinary tract infections
  • Bladder diverticulum
  • Inguinal hernia
  • Functional abnormality of male internal genitalia
  • Cryptorchidism
  • Micropenis
  • Renal duplication
  • Renal insufficiency
  • Polycystic kidney dysplasia
  • Nephrocalcinosis
  • Pelvic kidney
  • Polycystic ovaries
  • Wide mouth
  • Abnormality of the tongue
  • Thick lower lip vermilion
  • Gingival overgrowth
  • Everted lower lip vermilion
  • Otitis media
  • Sensorineural hearing impairment
  • Abnormality of the neck
  • Megalocornea
  • Visual impairment
  • Abnormality of refraction
  • Hypermetropia
  • Myopia
  • Blepharophimosis
  • Hypotelorism
  • Posterior embryotoxon
  • Lacrimation abnormality
  • Blue irides
  • Hypodontia
  • Abnormality of dental enamel
  • Dental malocclusion
  • Autism
  • Obsessive-compulsive behavior
  • Pectus excavatum
  • Nephrolithiasis
  • Abnormality of the urethra
  • Enuresis
  • Diabetes mellitus
  • Cutis laxa
  • Biliary tract abnormality
  • Abnormality of the fingernails
  • Muscular hypotonia
  • Cerebellar hypoplasia
  • Flexion contracture
  • Limitation of joint mobility
  • Joint hypermobility
  • Joint laxity
  • Portal hypertension
  • Vocal cord paralysis
  • Abnormality of the voice
  • Hoarse voice
  • Defect in the atrial septum
  • Abnormality of the mitral valve
  • Mitral valve prolapse
  • Congestive heart failure
  • Tetralogy of Fallot
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Patent ductus arteriosus
  • Abnormality of the aortic valve
  • Bicuspid aortic valve
  • Mitral regurgitation
  • Coronary artery disease
  • Pes planus
  • Small nail
  • Renal artery stenosis
  • Nausea and vomiting
  • Gastroesophageal reflux
  • Abdominal pain
  • Rectal prolapse
  • Abnormality of extrapyramidal motor function
  • Cerebral cortical atrophy
  • Hypercalciuria
  • Neurological speech impairment
  • Phonophobia
  • Colonic diverticulosis
  • Sleep disturbance
  • Developmental regression
  • Tracheoesophageal fistula
  • Celiac disease
  • Overriding aorta
  • Cerebral ischemia
  • Abnormality of pelvic girdle bone morphology
  • Scoliosis
  • Delayed skeletal maturation
  • Kyphoscoliosis
  • Genu valgum
  • Radioulnar synostosis
  • Patellar dislocation
  • Abnormality of the ankles
  • Abnormality of the shoulder
  • Abnormality of lipid metabolism
  • Short nose
  • Myopathy
  • Spina bifida occulta
  • Hyperlordosis
  • Abnormal form of the vertebral bodies
  • Clinodactyly of the 5th finger
  • Abnormality of the gastric mucosa
  • Involuntary movements
  • Abnormality of the endocardium
  • Supravalvular aortic stenosis
  • Abnormality of the pulmonary artery
  • Pulmonary artery stenosis
  • Elfin facies
  • Myxomatous mitral valve degeneration
  • Peripheral arterial stenosis
  • Abnormal nasal morphology
  • Coronary artery stenosis
  • Bowel diverticulosis
  • Depressed nasal bridge
  • Abnormality of the carotid arteries
  • Type II diabetes mellitus
  • Attention deficit hyperactivity disorder
  • Aplasia/Hypoplasia of the corpus callosum
  • Abnormal dermatoglyphics
  • Flat cornea
  • Abnormality of the retinal vasculature
  • Aplasia/Hypoplasia of the iris
  • Urethral stenosis
  • Hypoplasia of penis
  • Large earlobe
  • Reduced number of teeth
  • Abnormality of the diencephalon
  • Cheekbone underdevelopment
  • Medial flaring of the eyebrow
  • Hyperacusis
  • Early onset of sexual maturation
  • Impaired visuospatial constructive cognition
  • Increased nuchal translucency
  • Increased bone mineral density
  • Periorbital edema
  • Abnormal localization of kidney
  • Renovascular hypertension
  • Down-sloping shoulders
  • Chronic constipation
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