Cardiovascular manifestations in 75 patients with Williams syndrome.

doi:10.1136/jmg.39.8.554

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Article

Cardiovascular manifestations in 75 patients with Williams syndrome.

Journal of medical genetics - 1 Aug 2002

Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kähkönen M

Abstract excerpt

OBJECTIVE: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 Williams syndrome (WS) patients aged 4 months to 76 years (median 22.7 years). STUDY DESIGN: The diagnosis of WS was in each case confirmed by the clinical phenotype and by a FISH test showing elastin hemizygosity....

Topics

Adolescent
Adult
Aged
Cardiac Surgical Procedures
Cardiovascular Diseases
Cardiovascular Surgical Procedures
Child
Child, Preschool
Coronary Vessels
Elastin
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Male

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Identifiers

PMID: 12161592
DOI: 10.1136/jmg.39.8.554
PMCID: PMC1735199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Middle Aged

Phenotype

Treatment Outcome