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Aortic stenosis: A routine diagnosis with a rare cause.

ABSTRACT: A 40-year-old male patient presented with dyspnea on exertion and palpitation from 2 months ago. Physical examination revealed normal vital sign and a systolic murmur grade 3/6 in aortic area. Echocardiography revealed unicuspid aortic valve with an eccentric orifice, calcification, and aortic valve area of 0.9 cm². This case report highlights the usefulness of three-dimensional echocardiography for the determination of number of aortic valve cusps, presence of raphe and morphology of valve.

SUBMITTER: Fazlinejad A

PROVIDER: S-EPMC5224668 | biostudies-literature | 2016 Jul-Sep

REPOSITORIES: biostudies-literature

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Aortic stenosis: A routine diagnosis with a rare cause.

Fazlinejad Afsoon A Rohani Atooshe A Layeghian Malihe M Kargar Shahram S Arefifar Mohammad Reza MR

Journal of cardiovascular echography 20160701 3

A 40-year-old male patient presented with dyspnea on exertion and palpitation from 2 months ago. Physical examination revealed normal vital sign and a systolic murmur grade 3/6 in aortic area. Echocardiography revealed unicuspid aortic valve with an eccentric orifice, calcification, and aortic valve area of 0.9 cm<sup>2</sup>. This case report highlights the usefulness of three-dimensional echocardiography for the determination of number of aortic valve cusps, presence of raphe and morphology of ...[more]

PMID: 28465973

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Project description:BACKGROUND:Bicuspid aortic valve (BAV) disease is a congenital defect that affects 0.5% to 1.2% of the population and is associated with comorbidities including ascending aortic dilation and calcific aortic valve stenosis. To date, although a few causal genes have been identified, the genetic basis for the vast majority of BAV cases remains unknown, likely pointing to complex genetic heterogeneity underlying this phenotype. Identifying genetic pathways versus individual gene variants may provide an avenue for uncovering additional BAV causes and consequent comorbidities. METHODS:We performed genome-wide association Discovery and Replication Studies using cohorts of 2131 patients with BAV and 2728 control patients, respectively, which identified primary cilia genes as associated with the BAV phenotype. Genome-wide association study hits were prioritized based on P value and validated through in vivo loss of function and rescue experiments, 3-dimensional immunohistochemistry, histology, and morphometric analyses during aortic valve morphogenesis and in aged animals in multiple species. Consequences of these genetic perturbations on cilia-dependent pathways were analyzed by Western and immunohistochemistry analyses, and assessment of aortic valve and cardiac function were determined by echocardiography. RESULTS:Genome-wide association study hits revealed an association between BAV and genetic variation in human primary cilia. The most associated single-nucleotide polymorphisms were identified in or near genes that are important in regulating ciliogenesis through the exocyst, a shuttling complex that chaperones cilia cargo to the membrane. Genetic dismantling of the exocyst resulted in impaired ciliogenesis, disrupted ciliogenic signaling and a spectrum of cardiac defects in zebrafish, and aortic valve defects including BAV, valvular stenosis, and valvular calcification in murine models. CONCLUSIONS:These data support the exocyst as required for normal ciliogenesis during aortic valve morphogenesis and implicate disruption of ciliogenesis and its downstream pathways as contributory to BAV and associated comorbidities in humans.

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Aortic stenosis: A routine diagnosis with a rare cause.

Publications

Aortic stenosis: A routine diagnosis with a rare cause.

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