Aortic Valve Anomaly: Causes & Reasons

Possible Causes for Aortic Valve Anomaly

Conclusion A quadricuspid aortic valve is a rare congenital anomaly which can lead to aortic valve problems. [j-pcs.org]

Keywords Quadricuspid aortic valve Aortic regurgitation Surgery Background Among congenital aortic valve anomalies, quadricuspid aortic valve (QAV) is rare relative to the [cardiothoracicsurgery.biomedcentral.com]

[Article in French; Abstract available in French from the publisher] Abstract The quadricuspid aortic valve is a rare congenital anomaly that could be silent for a long time [ncbi.nlm.nih.gov]

Anomaly of Coronary Vessels

Conclusion A quadricuspid aortic valve is a rare congenital anomaly which can lead to aortic valve problems. [j-pcs.org]

Bicuspid Aortic Valve and Coronary Anomalies. Circulation 2003;107:e105. https://doi.org/10.1161/01.CIR.0000067687.37985.C4. [ Links ] 8. Doty DB. [scielo.org.ar]

[…] stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Hypoplastic right heart syndrome Uhl anomaly Left aortic valves stenosis insufficiency [en.wikipedia.org]

Aorto-Left Ventricular Tunnel

Lin AE, Chin AJ: Absent aortic valve: a complex anomaly. Pediatr Cardiol 1990;11:195–198. [karger.com]

Left ventricular dysfunction in the fetus: relation to aortic valve anomalies and endocardial fibroelastosis. Br Heart J 1991 ; 66 : 419 – 424. [cambridge.org]

Prenatal aortico-left ventricular tunnel was associated with severe left ventricular dysfunction, aortic valve anomalies, and fetal hydrops. [eurekamag.com]

Anomalies of Coronary Artery Origin

The possible relationship of these findings to the coronary artery anomaly and bicuspid aortic valve is considered. [ncbi.nlm.nih.gov]

We report a 20-year-old man who had an aorto-left atrial fistula with bicuspid aortic valve and coronary artery origin anomaly. [ncbi.nlm.nih.gov]

Familial Bicuspid Aortic Valve

[…] and the aorta; it opens with end diastole, causing the second heart sound. bicuspid aortic valve a congenital anomaly of the aortic valve, caused by incomplete separation [medical-dictionary.thefreedictionary.com]

Here, we show that mutations in the signalling and transcriptional regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification [nature.com]

The aortic root and valve: Anatomy and congenital anomalies. Emery RW, Arom KV. The Aortic Valve. Philadelphia: Hanley & Belfus, Inc.; 1991. 1-8. [emedicine.medscape.com]

Ruptured Sinus of Valsalva

Quadricuspid aortic valve is a rare congenital cardiac anomaly. [ncbi.nlm.nih.gov]

valve with ruptured sinus of Valsalva. [cambridge.org]

Association of SVA with congenital aortic stenosis, aortic coarctation, coronary anomalies, bicuspid aortic valve, patent ductus arteriosus, mitral regurgitation, tricuspid [ehjcimaging.oxfordjournals.org]

Aortic Valve Disorder

To explore the feasibllity to reconstruct aortic valve anomaly by three-dimensional Voxel imaging(3-D),8 patients with aortic valve anomaly were studied with 3-D,including [dict.cnki.net]

Isolated biscupid aortic valve is the most common of all congenital cardiac anomalies and usually has no effects on heart function. [pted.org]

[…] stenosis, bioprosthetic valve, transcatheter aortic valve implantation and a special section on congenital anomalies of the aortic valve. [intechopen.com]

Taussig Bing Anomaly

Transeptal Aortic Valve Replacement After Arterial Switch in a Patient With Taussig-Bing Anomaly. [infectoforum.net]

Anomalies of the Aortic Valve and of the Ascending Aorta A. Bicuspid Aortic Valves B. Aortic Stenosis C. Aneurysmal Dilation of the Ascending Aorta 29. [hup.harvard.edu]

Aortic valve replacement in patients after arterial switch is technically difficult, especially in patients with small aorta without neoaortic regurgitation. [ncbi.nlm.nih.gov]

Pericardial Anomaly

[…] of aortic arch congenital anomaly of coronary artery congenital anomaly of great veins congenital atresia of pulmonary valve congenital heart disease congenital infundibular [washington.providence.org]

[…] absence of coronary sinus Congenital aneurysm of heart Congenital anomaly of aortic valve Congenital anomaly of heart valve Congenital anomaly of pericardium Congenital aortic [icd9data.com]

anomaly of aortic valve Congenital anomaly of heart valve Congenital anomaly of pericardium Congenital atresia of cardiac valve Congenital atresia of cardiac vein Congenital [emedcodes.com]

Tollner-Horst-Manzke Syndrome

Valve with Hand Anomalies Pfeiffer Tietze Welte Syndrome Postaxial Polydactyly, with Dental and Vertebral Anomalies Progeroid Facial Appearance with Hand Anomalies Pseudotrisomy [rgd.mcw.edu]

Valve with Hand Anomalies Pfeiffer Tietze Welte Syndrome Postaxial Polydactyly, with Dental and Vertebral Anomalies Preaxial Polydactyly II + Progeroid Facial Appearance [rgd.mcw.edu]

Type Oslam syndrome otopalatodigital syndrome spectrum disorder + Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV Patent Ductus Arteriosus and Bicuspid Aortic [rgd.mcw.edu]

Fibular Dimelia-Diplopodia Syndrome

/vascular malformations (excluding port-wine stains) Cardiac diverticulum Cardiac valvulopathy Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid Aortic [readbag.com]

[…] of the cardio-circulatory system Aortic arches anomalies Aortic dilatation/dilation Aortic dissection Aortic root dilatation/dilation/aneurysm Arterioveinous malformations [readbag.com]

valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis Mitral valve atresia/stenosis/narrowing Mitral valve prolapse/incompetence/insufficiency/regurgitation [readbag.com]

Autosomal Dominant Coarctation of Aorta

Coarctation and/or hypoplasia of the thoracic aorta along with aortic valve anomalies are sometimes present. [disorders.eyes.arizona.edu]

The aortic root and valve: Anatomy and congenital anomalies. Emery RW, Arom KV. The Aortic Valve. Philadelphia: Hanley & Belfus, Inc.; 1991. 1-8. [emedicine.medscape.com]

Ebstein's anomaly, aortic valve stenosis, bicuspid aortic valve, patent foramen ovale, coarctation aorta 1-2% of population have biscuspid aortic valve incidence of dissection [ozemedicine.com]

Ehlers-Danlos Syndrome Classic-Like Type 2

[…] prolapse and aortic root dilation), and skeletal anomalies. [malacards.org]

[…] prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). [malacards.org]

[…] features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve [malacards.org]

Berk-Tabatznik Syndrome

Retrieved 25 July 2016. ^ "OMIM Entry - 604381 - PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES". Retrieved 25 July 2016. External links [ edit ] [en.wikipedia.org]

Patent ductus arteriosus-bicuspid aortic valve syndrome is a distinct syndrome from an allelic variant of Char syndrome. [en.wikipedia.org]

A unique feature in the syndrome is symmetric brachydactyly with long thumbs. [11] Patent ductus arteriosus-bicuspid aortic valve syndrome [ edit ] It has been confirmed that [en.wikipedia.org]

Grange Syndrome

Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal [ncbi.nlm.nih.gov]

The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. [ncbi.nlm.nih.gov]

Genetic Heterogeneity of Aortic Valve Disease Also see AOVD2 (614823), caused by mutation in the SMAD6 gene (602931) on chromosome 15q22, and AOVD3 (618496), caused by mutation [ncbi.nlm.nih.gov]

Aorto-Right Ventricular Tunnel

Prenatal aortico-left ventricular tunnel was associated with severe left ventricular dysfunction, aortic valve anomalies, and fetal hydrops. [eurekamag.com]

[…] of the aortic valve most likelyhas a common etiology with the tunnel, with both beingFig. 1 Echocardiographicexamination, modifiedparasternal long-axis view.Right B-mode [dokumen.tips]

Associated anomalies Proximal coronary anomalies like coronary ostium lying within the tunnel or atresia of coronary ostium is documented. [7] Aortic valve abnormalities are [annalspc.com]

Pelviscapular Dysplasia

Valve Hand Anomalies Databases Patterned Dystrophy Retinal Pigment Epithelium Databases Patterson Pseudoleprechaunism Syndrome Databases Pearson Databases Pearson Marrow [vadlo.com]

valve-hand anomalies syndrome 7 Cases 254531 Paternal 14q32.2 hypomethylation syndrome 7 Cases 254525 Paternal 14q32.2 microdeletion syndrome 6 Cases 261304 Paternal 20q13.2q13.3 [azkurs.org]

valve-hand anomalies syndrome Patterson-Stevenson-Fontaine syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease [se-atlas.de]

Supravalvular Aortic Stenosis

Sixteen (80%) children had anomalies of the aortic valve and/or coronary arteries, and in 13 (56%) children associated heart or great vessels anomalies were noted. [ncbi.nlm.nih.gov]

We present a case of supravalvular aortic stenosis in adult associated with anomalies of the aortic arch vessels and aortic regurgitation, which was submitted to aortic valve [ncbi.nlm.nih.gov]

Supravalvular aortic stenosis is a rare congenital anomaly characterized by variable amounts of left ventricular outflow tract obstruction distal to the aortic valve. [ncbi.nlm.nih.gov]

Discrete Fibromuscular Subaortic Stenosis

It may present as in an isolated form as fibrous or fibromuscular ring below the aortic valve or in association with other congenital anomalies. [ingentaconnect.com]

Presence of aortic coarctation or mitral valve anomalies should raise the suspicion of other cardiac defects since aortic coarctation occurs in 20–59% of cases with mitral [heartviews.org]

Congenital aortic valve stenosis is a relatively common anomaly. Congenital aortic valve stenosis occurs much more frequently in males, with a gender ratio of 4:1. [fqz301.brinkster.net]

Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

The aortic root and valve: Anatomy and congenital anomalies. Emery RW, Arom KV. The Aortic Valve. Philadelphia: Hanley & Belfus, Inc.; 1991. 1-8. [emedicine.medscape.com]

[…] dilated cardiomyopathy, mitral valve anomalies, pulmonary atresia, aortic root dilation, restrictive cardiomyopathy, Ebstein's anomaly of tricuspid valve and coronary artery [heartindia.net]

Bicuspid aortic valve 1. Very common cardiac anomaly (incidence 0.9% to 1.36% in population) 2. [circ.ahajournals.org]

Yuan-Harel-Lupski Syndrome

The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. [ncbi.nlm.nih.gov]

Genetic Heterogeneity of Aortic Valve Disease Also see AOVD2 (614823), caused by mutation in the SMAD6 gene (602931) on chromosome 15q22, and AOVD3 (618496), caused by mutation [ncbi.nlm.nih.gov]

Aortic Stenosis with Bicuspid Valve

The aortic root and valve: Anatomy and congenital anomalies. Emery RW, Arom KV. The Aortic Valve. Philadelphia: Hanley & Belfus, Inc.; 1991. 1-8. [emedicine.medscape.com]

Background Sir William Osler was one of the first to recognize the bicuspid aortic valve as a common congenital anomaly of the heart. [1] Leonardo da Vinci recognized the [emedicine.medscape.com]

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. Am J Med Genet. 1999 Nov 19. 87(2):175-9. [Medline]. [emedicine.medscape.com]

Osteoporosis-Oculocutaneous Hypopigmentation Syndrome

valve anomaly (rare) Skeletal Limbs: short limbs Cardiovascular Vascular: patent ductus arteriosus (rare) pulmonary hypertension (rare) Skeletal Spine: kyphoscoliosis (in [malacards.org]

valve-hand anomalies syndrome Patterson-Stevenson-Fontaine syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease [se-atlas.de]

[…] patients) Head And Neck Ears: small ears Cardiovascular Heart: ventricular septal defect (in some patients) pulmonary stenosis (rare) atrial septal defect (in some patients) aortic [malacards.org]

Mosaic Monosomy X

[…] deposition in cardiac valves floppy mitral valve floppy aortic valve genitourinary anomalies infantile external genitalia clitoral hypertrophy pubic hair scanty or absent [humpath.com]

Common cardiac anomalies include coarctation of the aorta and bicuspid aortic valve. Hypertension frequently occurs with aging, even without coarctation. [merckmanuals.com]

valve, and aortic dissection in adulthood Thyroid: Hypothyroidism develops in 10-30% of patients [6] and is often associated with thyroid enlargement Cutis laxa: Loose folds [emedicine.medscape.com]

Cutis Laxa - Osteoporosis

Associated features include cardiac valve anomalies and hernias. Aortic root dilatation might result in life-threatening aortic dissection. [accesspediatrics.mhmedical.com]

Cardiologic anomalies include atrial septal defect with an aneurysm of the atrial septum at the fossa ovalis (Casamassima et al., 1987), mild aortic enlargement (Azuri et [scielo.br]

Associated features include cardiac valve anomalies and hernias. Aortic root dilatation might result in life-threatening aortic dissection. Poor prognosis. [accesspediatrics.mhmedical.com]

X-linked Cardiac Valvular Dysplasia

In fact, more than half of patients who present with pure aortic regurgitation (AR) without any associated cardiac anomalies have aortic valve insufficiency caused by aortic [emedicine.medscape.com]

Overriding mitral valve Overriding right atrioventricular valve Overriding tricuspid valve Partial agenesis of pericardium Pericardial anomaly Pericardial cyst, congenital [icd9data.com]

Congenital Pericardium Anomaly

The article goes on to stay that if “simple” congenital anomalies such as PFO (patent foramen ovale) or bicuspid aortic valve are found also use the non-congenital echo codes [3mhisinsideangle.com]

Valve Stenosis (AVS) Atrial Septal Defect (ASD) Coarctation of the Aorta (CoA) Complete Atrioventricular Canal defect (CAVC) d-Transposition of the Great Arteries Ebstein [heart.org]

Right Ventricular Outflow Obstruction

The most common congenital anomalies accompanying sinus of Valsalva aneurysm (SVA) are ventricular septal defect, bicuspid aortic valve, atrial septal defect, and coarctation [ncbi.nlm.nih.gov]

It may occur in isolation or in concert with other cardiac anomalies.[5] Aortic insufficiency, or regurgitation, is characterized by an inability of the valve leaflets to [en.wikipedia.org]

Ruptured Sinus of Valsalva Aneurysm

Abstract Bicuspid aortic valve (BAV) is a common congenital cardiac anomaly, and rarely, it is associated with sinus of Valsalva aneurysms (SOVAs). [ncbi.nlm.nih.gov]

Associations Commonly occur with other congenital heart anomalies, including: ventricular septal defects bicuspid aortic valve pulmonic stenosis They may be asymptomatic. [radiopaedia.org]

Left Ventricular Noncompaction

Cristina Digilio, Paolo Versacci, Laura Bernardini, Antonio Novelli, Bruno Marino and Bruno Dallapiccola, Left ventricular non compaction with aortic valve anomalies: A recurrent [dx.doi.org]

valve ) Ebstein anomaly (25%) more rarely: tetralogy of Fallot or coarctation of the aorta Plain radiograph Chest radiographs are not useful in the diagnosis of non-compaction [radiopaedia.org]

[…] study, approximately 12% of patients had associated cardiac malformations 1 : ventricular outflow tract / left ventricular outflow tract abnormalities (46%, mainly bicuspid aortic [radiopaedia.org]