Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Published on Aug 22, 2016in Journal of Genetic Counseling2.149
· DOI :10.1007/S10897-016-0002-6
Samantha L. Freeze4
Estimated H-index: 4
(IU: Indiana University),
Benjamin J. Landis8
Estimated H-index: 8
(IU: Indiana University)
+ 1 AuthorsBenjamin M. Helm7
Estimated H-index: 7
(IU: Indiana University)
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.
📖 Papers frequently viewed together
270 Citations
568 Citations
234 Citations
#1Dhanunjaya Lakkireddy (KU: University of Kansas)H-Index: 49
#2Donita Atkins (KU: University of Kansas)H-Index: 18
Last. Kay Ryshon (KU: University of Kansas)H-Index: 2
view all 15 authors...
Left atrial appendage (LAA) a major source of ANP (atrial natriuretic peptide) which can influence the endocrine axis. The physiologic effects of LAA exclusion on systemic homeostasis have not been previously studied. 37 consecutive patients (7 women (19%)/30 men (81%); age 71±8; CHAD2 2.6±1.1;
56 CitationsSource
#1Loren F. HiratzkaH-Index: 73
#2Mark A. CreagerH-Index: 60
Last. Duminda N. WijeysunderaH-Index: 76
view all 30 authors...
Two guidelines from the American College of Cardiology (ACC), the American Heart Association (AHA), and collaborating societies address the risk of aortic dissection in patients with bicuspid aortic valves and severe aortic enlargement: the “2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease” (Circulation. 2010;121:e266–e369) and the “2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease...
119 CitationsSource
#1Wilhelmina S. Kerstjens-Frederikse (UMCG: University Medical Center Groningen)H-Index: 23
#2Ingrid M.B.H. van de Laar (EUR: Erasmus University Rotterdam)H-Index: 20
Last. Marja W. Wessels (EUR: Erasmus University Rotterdam)H-Index: 33
view all 18 authors...
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
63 CitationsSource
#1Dorien Proost (University of Antwerp)H-Index: 5
#2Geert Vandeweyer (University of Antwerp)H-Index: 26
Last. Lut Van Laer (University of Antwerp)H-Index: 56
view all 16 authors...
At least 14 causative genes have been identified for both syndromic and nonsyndromic forms of thoracic aortic aneurysm/dissection (TAA), an important cause of death in the industrialized world. Molecular confirmation of the diagnosis is increasingly important for gene-tailored patient management but consecutive, conventional molecular TAA gene screening is expensive and labor-intensive. To circumvent these problems, we developed a TAA gene panel for next-generation sequencing of 14 TAA genes. Af...
70 CitationsSource
#1Jason R. Cowan (IU: Indiana University)H-Index: 2
#2Stephanie M. Ware (IU: Indiana University)H-Index: 30
Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extracardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD causes. These distinctions remain clinically relevant, but it is increasingly clear that nonsyndromic CHDs can also be genetic. This article discusses key morphologic, molecular, and signaling mechanisms relevant to heart de...
48 CitationsSource
#1Xin-Kai Qu (SJTU: Shanghai Jiao Tong University)H-Index: 19
#2Xing-Biao Qiu (SJTU: Shanghai Jiao Tong University)H-Index: 19
Last. Yi-Qing Yang (SJTU: Shanghai Jiao Tong University)H-Index: 30
view all 13 authors...
Bicuspid aortic valve (BAV) is the most common form of congenital cardiovascular defect in humans and is associated with substantial morbidity and mortality. Emerging evidence demonstrates that genetic risk factors play an important role in the pathogenesis of BAV. However, BAV is a genetically heterogenous disorder, and the genetic defects underpinning BAV in most patients remain to be identified. In the present study, the coding exons and flanking introns of the NKX2.5 gene, which encodes a ho...
54 CitationsSource
633 CitationsSource
#1Elizabeth M. Bonachea (OSU: Ohio State University)H-Index: 3
#2Sheng-Wei Chang (Nationwide Children's Hospital)H-Index: 5
Last. Vidu GargH-Index: 33
view all 7 authors...
Bicuspid aortic valve (BAV) is the most common type of congenital heart disease (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion, with right-left (R-L) cusp fusion being associated with additional CHD, and right-noncoronary cusp (R-NC) fusion being associated with aortic valve dysfunction. Loss of murine Gata5, which encodes a cardiac transcription factor, results in a partially penetrant R-NC BAV, and we hypothesize that mutations in GATA5 are associated with R-NC BA...
52 CitationsSource
BACKGROUND AND OBJECTIVE: Left heart defects, such as bicuspid aortic valve (BAV), are heritable. Consensus guidelines have recommended echocardiographic screening of first-degree relatives. The utility of this approach in siblings of children with BAV is not known. The objective of this study is to evaluate the yield of routine screening of siblings of children with BAV and undertake an economic analysis of this practice. METHODS: Siblings of children with BAV who underwent echocardiographic sc...
21 CitationsSource
#1Guglielmina Pepe (UniFI: University of Florence)H-Index: 35
#2Stefano Nistri (UniFI: University of Florence)H-Index: 30
Last. Gian Franco Gensini (UniFI: University of Florence)H-Index: 98
view all 10 authors...
Background Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some clinical features, and some MFS patients with BAV display mutations in FBN1, the gene encoding fibrillin-1, the genetic background of isolated BAV is poorly defined.
66 CitationsSource
Cited By25
#2Álvaro del Río-García (International Sleep Products Association)
Last. Isabel Rodríguez (International Sleep Products Association)H-Index: 16
view all 4 authors...
Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many q...
#1Joshua S. Bendickson (University of Louisiana at Lafayette)H-Index: 8
#1Talha NiazH-Index: 8
#2Jonathan N. Johnson (Mayo Clinic)H-Index: 30
Last. Donald J. Hagler (Mayo Clinic)H-Index: 88
view all 5 authors...
1. Talha Niaz, MBBS* 2. Jonathan N. Johnson, MD*,† 3. Frank Cetta, MD*,† 4. Timothy M. Olson, MD*,† 5. Donald J. Hagler, MD*,† 1. *Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and 2. †Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN * Abbreviations: AHA : : American Heart Association BAV : : bicuspid aortic valve TTE : : transthoracic echocardiography Bicuspid aortic valve is the most common congenital heart defect in children, adolescents, ...
#1Huiyun Chen (PRC: China Medical University (PRC))
#2Huili Liang (PRC: China Medical University (PRC))
Last. Xin Chen (PRC: China Medical University (PRC))H-Index: 5
view all 6 authors...
BACKGROUND Studies have found conflicting results concerning the left ventricular (LV) myocardial deformation properties in patients with normally functioning bicuspid aortic valves (BAVs). Whether the remodeling process of LV occurs independently in patients with BAV is a matter of debate. METHOD We searched PubMed, Embase, Cochrane library, and Web of Science for cohort studies aiming to assess LV function in adults with isolated BAV compared with tricuspid aortic valve (TAV) controls. Standar...
Bicuspid aortic valve refers to common (0.5-2% of the population) congenital heart defects that are asymptomatic throughout life, with valve dysfunction and/or aortopathy (pathia- from Greek pathos disease), manifested by expansion, aneurysm or dissection of the vessel. The pathogenesis of the formation of a bicuspid valve is unknown, a genetic component is noted, since the defect develops as sporadic, familial, in combination with other congenital heart defects and with hereditary connective ti...
#1Emad KandahH-Index: 1
view all 5 authors...
A 54-year-old male with a history of hypertension, diabetes, and sleep apnea presented with a two-week history of dyspnea. The patient was hypoxic with bilateral leg edema. Initial workup showed elevated troponin at 0.15 ng/mL, brain natriuretic peptide of 720 pg/mL, and hyponatremia. Chest X-ray revealed lungs infiltrates with possible pneumonia. An electrocardiogram showed sinus tachycardia and ST depression in septal leads. He received diuretics and antibiotics for fluid overload and pneumoni...
#1Yunsun Song (UOU: University of Ulsan)H-Index: 6
#2Boseong Kwon (UOU: University of Ulsan)
Last. Dae Chul Suh (UOU: University of Ulsan)H-Index: 44
view all 9 authors...
Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients' lives. However, these diseases are difficult to diagnose and treat due to their rarity and incurability. We established a list of RNVDs by referring to the previous literature and databases worldwide to better understand the diseases and their current management status. We categorized 68 RNVDs based on their pathophysiology and clinical manifestatio...
This article highlights our current understanding of bicuspid aortic valve (BAV) syndrome and how genetics, pathology, imaging features, and clinical symptoms direct the clinical management, surveillance, and intervention of those with BAV. While randomized data and guidelines are lacking, transcatheter therapies are routinely used for BAV stenosis in medical centers throughout the world. Guidelines suggest that younger patients age less than 50 years undergo surgical aortic valve replacement (A...
#1Talha Niaz (Mayo Clinic)H-Index: 8
#2Susan M. Fernandes (Stanford University)H-Index: 33
Last. Donald J. Hagler (Mayo Clinic)H-Index: 88
view all 5 authors...
Abstract Bicuspid aortic valve (BAV) is one of the most common congenital heart defects in children, adolescents and adults. BAV can occur as an isolated lesion or in association with other congenital heart defects, such as coarctation of the aorta or genetic syndromes like Turner syndrome. Although the majority of long term complications associated with BAV manifest later in life, children and adolescents may present with early onset valvular dysfunction or dilation of the aorta. BAV is a heter...
1 CitationsSource
#1Dorota SzumskaH-Index: 15
#2Robert J.M. WilsonH-Index: 44
Last. Timothy J. MohunH-Index: 1
view all 4 authors...