Three-dimensional echocardiographic evaluation of an incidental quadricuspid aortic valve

Armen, Todd A.; Vandse, Rashmi; Bickle, Katherine; Nathan, Neera

doi:10.1016/j.euje.2007.03.041

Cited by 9 publications

(10 citation statements)

References 7 publications

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“…Quadricuspid aortic valves are rare and occur with a prevalence of approximately 1–5 per 10,000 people [Feldman et al, 1990]. Aortic regurgitation is the predominant functional abnormality associated with quadricuspid aortic valve, and is postulated to be mostly due to a small accessory cusp [Feldman et al, 1990; Armen et al, 2008]. It is typically asymptomatic in childhood but can progress over time [Feldman et al, 1990; Holt et al, 2007; Armen et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

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The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

Chen

Kim

Shanbhag

et al. 2009

American J of Med Genetics Pt A

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disorder and is the most common cause of ambiguous genitalia in the newborn. The genes encoding 21-hydroxylase, CYP21A2, and tenascin-X (TNX), TNXB, are located within the HLA complex, in a region of high gene density termed the RCCX module. The module has multiple pseudogenes as well as tandem repeat sequences that promote misalignment during meiosis leading to complex gene rearrangements, deletions and gene conversion events. CYP21A2 mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type Ehlers-Danlos syndrome (EDS). Here we report on a three-generation family with a heterozygous deletion encompassing CYP21A2 and TNXB that initially came to medical attention due to the diagnosis of CAH in the proband. Southern blotting and PCR-based analysis of the RCCX module revealed a CYP21A2 deletion extending into TNXB in one allele and a CYP21A2 point mutation in the other allele. Family history is notable for joint hypermobility. Additional radiological and clinical investigations showed a quadricuspid aortic valve, single kidney, bicornuate uterus and a bifid uvula in the proposita, and mitral valve prolapse in her mother. These findings further delineate the phenotype of the CAH-TNX contiguous gene deletion syndrome and point to an intersection of connective tissue dysplasias with a common gene-mediated endocrine disorder.

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Section: Discussionmentioning

confidence: 99%

“…Valve replacement is often required by the fifth or sixth decade. Early detection of quadricuspid aortic valve is essential for the prevention of valvular and ventricular dysfunction [Armen et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

Chen

Kim

Shanbhag

et al. 2009

American J of Med Genetics Pt A

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“…The abnormal leaflet coaptation, fibrous thickening and asymmetric mechanical stress around the four cusps leads to aortic regurgitation, which also increases the risk of endocarditis [6]. Other cardiac defects associated with QAV include ventricular septal defect, subaortic fibromuscular stenosis, patent ductus arteriosus, coronary ostium displacement and altered coronary artery anatomy [7].…”

Section: Discussionmentioning

confidence: 99%

A quadricuspid aortic valve causing moderate aortic regurgitation

Bakırcı¹,

Arslan²,

Değirmenci³

et al. 2012

Cardiol J

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“…This may be a result of long-term aortic regurgitation. Left ventricular dysfunction was also occasionally seen in some cases, and the surgical outcomes for those cases were satisfactory [19,20], as seen in our first patient who had low ejection fraction pre-operatively but recovered well with temporary assistance of an intra-aortic balloon pump.…”

Section: Discussionmentioning

confidence: 79%

Congenital quadricuspid aortic valve associated with aortic insufficiency and mitral regurgitation

Zhu

Zhang

et al. 2013

J Cardiothorac Surg

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Congenital quadricuspid aortic valve is a rare cardiac anomaly. More than half of the patients with this abnormality will develop aortic insufficiency in adulthood. It is vital that patients with quadricuspid aortic valve who present with progressive aortic regurgitation undergo valve replacement or repair at appropriate time. Here, we present two cases of quadricuspid aortic valve. We first describe a 58-year-old man who had mitral regurgitation and ascending aorta dilatation with quadricuspid aortic valve. He underwent aortic valve replacement and mitral valve plasty and recovered well. The second patient is a 20-year-old asymptomatic boy who has been closely followed up and has not received any surgical treatment.

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Three-dimensional echocardiographic evaluation of an incidental quadricuspid aortic valve

Abstract: Our patient's case demonstrates the usefulness of transesophageal echocardiography in detection of this uncommon congenital malformation.

Cited by 9 publications

References 7 publications

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

A quadricuspid aortic valve causing moderate aortic regurgitation

Congenital quadricuspid aortic valve associated with aortic insufficiency and mitral regurgitation

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