Familial congenital bicuspid aortic valve: A disorder of uncertain inheritance

Abstract

Congenital bicuspid aortic valve (BAV) is one of the most frequent heart defects detected by echocardiographic investigation and necropsy (0.9–1% of the general population), but only 16 families with familial congenital BAV have been described up to now. We report on a family in which 4 members of two generations (2 brothers, 1 sister, and her son) are affected with BAV. The BAV mode of inheritance is discussed. © 1996 Wiley‐Liss, Inc.

Ascending Aneurysms in Bicuspid Aortic Valve

“…BAV, which was probably first depicted more than 400 years ago in Leonardo da Vinci's sketches, is a genetic disorder. (Clementi et al, 1996;Cripe et al, 2004;Friedman et al, 2008;Huntington et al, 1997;Roberts, 1970) The high heritability of BAV was estimated to be 0.89. Family-based genome-wide analysis revealed linkage of BAV to the chromosomal regions 5q, 13q, and 18q in an autosomal dominant inheritance with reduced penetrance and a non-Mendelian pattern.…”

An Adult Case of Unicommissural Unicuspid Aortic Valve Diagnosed Based on the Intraoperative Findings

“…Compared with BAV, which has a prevalence of 0.9-1.36%, UAV is extremely rare with a prevalence of 0.02% (1, 2). While genetic factors have been considered with BAV (3,15), no clearly identified genetic abnormalities have been identified for UAV (3), although it is more common among men, with a male to female ratio of 4:1.…”

“…This condition is divided into acommissural and unicommissural types; the former exhibits severe valve dysfunction and requires treatment from the neonatal period through childhood (3,4). On the other hand, the unicommissural type often remains asymptomatic until adulthood.…”

Aortopathy pathophysiology features in patients with bicuspid aortic valve.

“…Исходя из этого, был сделан вывод, что ДАК является полностью генетически детерминированным признаком и мутации в различных генах ответственны за формирование порока [18]. Эпидемиологические исследования выявили, что ДАК является наследуемым признаком cаутосомально-доминантным типом наследования с пониженной пенетрантностью и изменчивой экспрессивностью [19,20]. Преимущественное доминирование у мужчин (соотношение признака по полу -мужчины к женщинам 3:1), также как и сочетание ДАК с синдромом Тернера (признак 45X хромосомы) предполагает этиологию, связанную с Х хромосомой [21].…”