Rare combination of left ventricular noncompaction, bicuspid aortic valve and myocardial bridging. Rare case or common genetic mutations?

Imbalzano, Egidio; Ceravolo, Roberto; Stefano, Rossella Di; Vatrano, Marco; Saitta, Antonino

doi:10.1016/j.ijcard.2013.11.094

Cited by 7 publications

(2 citation statements)

References 37 publications

(63 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Exercise-induced ischaemia is due to tachycardia, increasing myocardial oxygen requirement and decreasing diastolic coronary flow. 4 Myocardial bridges have been reported in myocardial diseases such as dilated, noncompaction 5 and more commonly hypertrophic cardiomyopathy. 6 Although most patients with myocardial bridges remain asymptomatic, symptoms like angina, exertional chest pain, or dyspnoea may develop, 7 and ventricular arrhythmia, myocardial infarction, syncope, and sudden death have been reported.…”

Section: Discussionmentioning

confidence: 99%

Multiple myocardial bridges causing severe ischaemia in adolescent with pulmonary stenosis

2020

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Multiple myocardial bridges causing severe ischaemia in adolescent with pulmonary stenosis

2020

View full text Add to dashboard Cite

show abstract

“…The very high incidence of BAV in Turner women compared with XY men favors existence of autosomal modifier genes for this valvular disease and perhaps a homologous Y chromosomal gene [4]. BAV has also been associated with the primary ciliopathies, such as Joubert syndrome [116], and with ventricular non-compaction [117, 118]. Using linkage, loci within the 5q15-21, 13q33-qter and 18q22.1 chromosomal regions have been identified [4, 119], but the responsible genes have not.…”

Section: Etiology Of Bav Diseasementioning

confidence: 99%

Embryonic Development of the Bicuspid Aortic Valve

Martin

Kloesel

Norris

et al. 2015

JCDD

View full text Add to dashboard Cite

Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect with an overall frequency of 0.5%–1.2%. BAVs result from abnormal aortic cusp formation during valvulogenesis, whereby adjacent cusps fuse into a single large cusp resulting in two, instead of the normal three, aortic cusps. Individuals with BAV are at increased risk for ascending aortic disease, aortic stenosis and coarctation of the aorta. The frequent occurrence of BAV and its anatomically discrete but frequent co-existing diseases leads us to suspect a common cellular origin. Although autosomal-dominant transmission of BAV has been observed in a few pedigrees, notably involving the gene NOTCH1, no single-gene model clearly explains BAV inheritance, implying a complex genetic model involving interacting genes. Several sequencing studies in patients with BAV have identified rare and uncommon mutations in genes of cardiac embryogenesis. But the extensive cell-cell signaling and multiple cellular origins involved in cardiac embryogenesis preclude simplistic explanations of this disease. In this review, we examine the series of events from cellular and transcriptional embryogenesis of the heart, to development of the aortic valve.

show abstract