Cardiovascular screening in Williams syndrome

Williams‐Beuren syndrome associated with hammock mitral valve: First case report

“…Williams-Beuren syndrome is associated with an elastin deficiency that predisposes to widespread changes within the cardiovascular system; therefore, they need close long-term follow-up. 7 To our knowledge, this is the first report of a hammock mitral valve in patients with this chromosomopathy. Multimodal imaging determines the diagnosis of cardiovascular abnormalities in this unique syndrome and is crucial in surgical planning.…”

“…Williams‐Beuren syndrome is associated with an elastin deficiency that predisposes to widespread changes within the cardiovascular system; therefore, they need close long‐term follow‐up 7 . To our knowledge, this is the first report of a hammock mitral valve in patients with this chromosomopathy.…”

“…5,6 Cardiovascular defects are the most frequent cause of death in these patients, and are present in up to 80% of cases, being even more prevalent during childhood. 7 For this reason, there is a need to carry out an early cardiovascular study in this population, in order to detect defects and reduce morbidity and mortality. This study should focus on at least five aspects: intracardiac anatomy, the search for systemic arterial disease, coronary disease, hypertension, and evaluation of electrical conduction systems 7 ; being the stenosis of the arteries the most frequent finding, 5 with damage in those of medium and large diameter.…”

“…7 For this reason, there is a need to carry out an early cardiovascular study in this population, in order to detect defects and reduce morbidity and mortality. This study should focus on at least five aspects: intracardiac anatomy, the search for systemic arterial disease, coronary disease, hypertension, and evaluation of electrical conduction systems 7 ; being the stenosis of the arteries the most frequent finding, 5 with damage in those of medium and large diameter. 8 Supravalvular aortic stenosis constitutes the most frequent cardiovascular anomaly in WBS, whose incidence range between 57% and 71%.…”

“…Cardiovascular defects are the most frequent cause of death in these patients, and are present in up to 80% of cases, being even more prevalent during childhood 7 . For this reason, there is a need to carry out an early cardiovascular study in this population, in order to detect defects and reduce morbidity and mortality.…”