Cardiovascular manifestations in 75 patients with Williams syndrome

Eronen, Marianne; Peippo, Maarit; Hiippala, Anita; Raatikka, Marja; Arvio, Maria; Johansson, Rolf; Kähkönen, Meri

doi:10.1136/jmg.39.8.554

Cited by 203 publications

(167 citation statements)

References 19 publications

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“…It has been reported by Bruno et al 17 that in WS, the incidence of pulmonary stenosis at the valvular level was 11%, and they 17 and Eronen et al 26 reached consensus that the incidence of pulmonary artery stenosis was around 40%. Del Pasqua et al 26 proposed that the major surgical or interventional indication for pulmonary stenosis in WS patients was a mean pressure gradient of >45 mmHg.…”

Section: Pulmonary Stenosismentioning

confidence: 99%

“…It was reported by Eronen et al 26 that 61% of the infantile WS patients required surgery or intervention. Based on a study by Del Pasqua et al 6 , the surgical indications included SVAS tended to progress, especially when the Doppler gradient was above 30 mmHg, and gradients over 50 mmHg.…”

Section: Surgical Indicationsmentioning

confidence: 99%

“…Stamm et al 27 stated that aortic arch surgery could be performed safely and with excellent early and late results in children with SVAS. However, Eronen et al 26 found that aortoplasty or aortic angioplasty might cause postoperative mild to moderate aortic valve insufficiency and mild restenosis. Another postoperative concern as indicated by Gray et al 14 was the recurrent pseudoaneurysm after surgical correction of SVAS, which was considered the abnormal quality of the vascular tissue in WS patients.…”

Section: Surgical Indicationsmentioning

confidence: 99%

“…Del Pasqua et al 26 proposed that the major surgical or interventional indication for pulmonary stenosis in WS patients was a mean pressure gradient of >45 mmHg. Clinical studies by different surgical teams, including Stamm et al 27 , Monge et al 28 and Geggel et al 29 that the treatment of choice for pulmonary stenosis depended on the site of the lesion and the late results were fine (Fig.…”

Section: Pulmonary Stenosismentioning

confidence: 99%

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Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

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Section: Pulmonary Stenosismentioning

confidence: 99%

Section: Surgical Indicationsmentioning

confidence: 99%

Section: Surgical Indicationsmentioning

confidence: 99%

Section: Pulmonary Stenosismentioning

confidence: 99%

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Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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“…Hypertension was found in 23/42 (55%) patients with Williams-Beuren syndrome older than 15 years old, where antihypertensive medications were warranted in 14/23 (61%) of the patients, including β-blocker only, β-blocker and diuretics, calcium blocker, angiotensin-converting enzyme inhibitor (ACEI), and diuretics only [43]. Researchers believed that the presence or absence of the neutrophil cytosol factor 1 (NCF1) gene on chromosome 7 was related to the developing hypertension in Williams syndrome [44].…”

Section: Congenital Heart Defectsmentioning

confidence: 99%

Cardiac surgery and hypertension: a dangerous association that must be well known

Yuan¹,

Hua²

2011

Rev Bras Cir Cardiovasc

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It is well-known that hypertension is a very common disease, and severe cerebrovascular accidents might occur if the blood pressure is not properly controlled. However, conditions associated with uncontrolled hypertension may be overlooked, and may become critical and eventually require a surgical intervention on an urgent basis. Coronary artery disease, acute aortic syndrome, congenital and valvular heart disease, and arrhythmias are under this topic of discussion. Of them, coronary artery disease including myocardial infarction and especially postinfarction myocardial rupture, and aortic dissection are major critical situations that physicians may encounter in clinical practice. The role that hypertension plays in these conditions can be complex, including hemodynamic, electrophysiological and biomolecular factors, where the latter may prevail in the current era. Coronary artery disease may be associated with a reduced nitric oxide synthesis. Transforming growth factor and matrix metalloproteinases have been observed in relation to aortic syndrome. Wnt, p38 and JNK signaling pathway may be involved in the development of ventricular hypertrophy responsible for cardiac arrythmias. Various gene phynotypes may present in different congenital heart defects. This article is to present these conditions, and to Cardiac surgery and hypertension: a dangerous association that must be well knownCirurgia cardíaca e hipertensão: uma associação perigosa que deve ser bem conhecida Resumo É sabido que a hipertensão é uma doença muito comum, e que os acidentes cerebrovasculares graves podem ocorrer se a pressão sanguínea não for apropriadamente controlada. Contudo, as condições associadas à hipertensão não controlada podem ser negligenciadas, e tornarem-se críticas, necessitando, eventualmente, uma intervenção cirúrgica urgente. Doença coronariana, síndrome aórtica aguda, cardiopatias congênitas, valvopatias e arritmias são sob este tópico de discussão. Dentre eles, a doença corornariana, inclusive o infarto do miocárdio e especialmente a ruptura cardíaca pós-infarto e a dissecção aórtica, são as situações críticas principais que os médicos podem encontrar na prática clínica. O papel que a hipertensão desempenha nessas condições pode ser complexo, incluindo fatores further discuss the possible etiologies and the potential treatment strategies so as to highlight the relevance at a prognostic level.Descriptors: Cardiac Surgical Procedures. Heart Diseases. Hypertension. YUAN, SM & JING, H -Cardiac surgery and hypertension: a dangerous association that must be well knownRev Bras Cir Cardiovasc 2011;26(2):273-81 vascular tissue associated with increased endocrine and local paracrine effects; 2) the impact of the common risk factors, such as high blood pressure, that exaggerate and accelerate atherosclerotic process; and 3) hemodynamic factors, which may destabilize vascular lesions and precipitate acute events [3].A modest short-term reduction in blood pressure confers a reduction in coronary artery disease events of abou...

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The Intellectually Disabled Patient

Anderson

Grossman

2011

Challenging and Emerging Conditions in Emergency Medicine

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Cardiovascular manifestations in 75 patients with Williams syndrome

Cited by 203 publications

References 19 publications

Congenital heart defects in Williams syndrome

Congenital heart defects in Williams syndrome

Cardiac surgery and hypertension: a dangerous association that must be well known

The Intellectually Disabled Patient

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