Quadricuspid Aortic Valve Diagnosed by Echocardiography in Two Cases Identical Twins

Fratellone, Patrick; Berger, Marvin; Khan, Mohammed Fahad; Bassiri-Tehrani, Michael

doi:10.1016/j.amjcard.2007.06.046

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…QAV has also been associated with Ehlers-Danlos syndrome in 16year-old patient in association with neurological abnormalities (epilepsy, agenesis of the corpus callosum) The patient's family had an autosomal dominant inherited disorder of connective tissue also affecting the father and the brother, diagnosed as EDS type II [34]; and has been reported in a patient with Turner syndrome [35]. QAV has been reported in identical twins [36].…”

Section: Reported Cardiac and Systemic Associations With Qavsmentioning

confidence: 99%

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Mehisen¹,

Essely²

2016

J Genet Syndr Gene Ther

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Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.

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Section: Reported Cardiac and Systemic Associations With Qavsmentioning

confidence: 99%

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Mehisen¹,

Essely²

2016

J Genet Syndr Gene Ther

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“…The most common cardiovascular irregularities observed with QAV are deformities in coronary arteries and ostia [ 27 ], with atypical coronary arteries, usually singular, associated with 10% of cases; this is of particular significance due to a reported sudden cardiac death of a previously unremarkable 16-year-old while walking owed to a left coronary ostium dome-like occlusion, with ventricular fibrillation noted as the immediate cause of death [ 29 ]. Furthermore, a single case has been reported in a patient with Ehlers-Danlos syndrome [ 18 ], as well as another case amongst identical twins [ 30 ]. QAVs’ correlation with aortic irregularities is ambivalent; one publication reported it was not associated with aortic dilation (unlike bicuspid aortic valves) [ 9 ], while another found common concurrence with ascending aortic dilation and aneurysms [ 31 ].…”

Section: Incidencesmentioning

confidence: 99%

Quadricuspid Aortic Valve: An Introduction for Clinicians

Saith

Murthy

2022

Cardiol Res

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Quadricuspid aortic valve (QAV) is a congenital heart anomaly in which the aortic valve has four cusps of various size possibilities, as opposed to the three symmetrical cusps generally observed. This cardiac valvular abnormality is rarely identified, with an estimated incidence rate of 0.013% to 0.043%, although recent technological advancements in diagnostics have contributed to an increase in detection. Historically, it had been typically encountered during open heart surgery or postmortem; however, it is presently diagnosed primarily via ultrasound echocardiography, and could go undetected unless specifically considered. It was first reported by Babington in 1847, and since then approximately 300 cases have been published. This condition is sporadically associated with additional congenital cardiovascular defects, with coronary artery irregularities being the most common. In more than half of published QAV incidences it has led to the progressive development of aortic regurgitation (AR) usually sans aortic stenosis, particularly amongst elderly patients, often requiring surgical intervention after 50 years of age. A fifth of total instances, but two-thirds of instances with AR, warrant surgery seldom amidst complications, with reconstructive tricuspidization preferred over valve replacement.

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Congenital aortic stenosis: Congenital aortic regurgitation

Marelli

Aboulhosn²

2023

Perloff's Clinical Recognition of Congenital Heart Disease

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Quadricuspid Aortic Valve Diagnosed by Echocardiography in Two Cases Identical Twins

Cited by 4 publications

References 11 publications

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature

Quadricuspid Aortic Valve: An Introduction for Clinicians

Congenital aortic stenosis: Congenital aortic regurgitation

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