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Cardiovascular manifestations in 75 patients with Williams syndrome
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  1. M Eronen1,
  2. M Peippo2,
  3. A Hiippala1,
  4. M Raatikka1,
  5. M Arvio3,
  6. R Johansson4,
  7. M Kähkönen5
  1. 1The Hospital for Children and Adolescents, Division of Paediatric Cardiology, University of Helsinki, Finland
  2. 2Department of Medical Genetics, The Family Federation of Finland, Helsinki, Finland
  3. 3Pääjärvi Communal Union, Lammi, Finland
  4. 4The Joint Municipal Authority for Social Services in Pirkanmaa, Finland
  5. 5Department of Clinical Genetics, Tampere University Hospital, Finland
  1. Correspondence to:
 Dr M Eronen, The Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, 00290 Helsinki, Finland;
 Marianne.eronen{at}dlc.fi

Abstract

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. Clinical and operative data were collected from all hospitals where the patients had been treated.

Results: Cardiovascular symptoms were evident in 35 of 75 (47%) WS children at birth. During follow up, 44 of 75 (53%) WS patients were found to have cardiovascular defects. Among them, the definitive diagnosis was made before 1 year of age in 23 (52%) infants, between 1 year and 15 years of age in 14 (32%) children, and older than 15 years of age in 7 (16%) adults. Multiple obstructive cardiovascular diseases were found in six infants. Supravalvular aortic stenosis (SVAS) was diagnosed in 32/44 (73%), pulmonary arterial stenosis (PAS) in 18/44 (41%), aortic or mitral valve defect in 5/44 (11 %) of cases, and tetralogy of Fallot in one (2%) case. Altogether, 17/44 (39 %) underwent surgery or intervention. Surgery was most frequently performed in the infant group (6% v 21% v 0%, p=0.004). After 1 year of age, seven patients underwent SVAS relief and two cases PAS relief. Postoperatively there was no mortality (median follow up time 6.9 years). Arterial hypertension was found in 55% of adults. In three adults, arterial vasculopathy was not diagnosed until necropsy.

Conclusions: Our data indicate the following in WS. Cardiac symptoms are common in neonates. Heart disease diagnosed in infancy frequently requires operation. After 1 year of age, PAS tends to improve and SVAS to progress. Life long cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension.

  • Williams syndrome
  • elastin vasculopathy
  • cardiovascular manifestations
  • supravalvular aortic stenosis
  • ASD, atrial septal defect
  • CMP, cardiomyopathy
  • CoA, coarctation of the aorta
  • LPA, left branch of pulmonary artery
  • MPA, main pulmonary artery
  • PAS, pulmonary arterial stenosis
  • RPA, right branch of pulmonary artery
  • SVAS, supravalvular aortic stenosis
  • VSD, ventricular septal defect
  • TOF, tetralogy of Fallot
  • AS, aortic stenosis
  • AI, aortic insufficiency
  • MS, mitral stenosis
  • MI, mitral insufficiency
  • WS, Williams syndrome
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