Bicuspid Aortic Valve: Inter-Racial Difference in Frequency and Aortic Dimensions

Chandra, Sonal; Lang, Roberto M.; Nicolarsen, Jeremy; Gayat, Étienne; Spencer, Kirk T.; Mor‐Avi, Victor; Bowman, Marion A. Hofmann

doi:10.1016/j.jcmg.2012.07.008

Cited by 64 publications

(33 citation statements)

References 34 publications

(36 reference statements)

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“…Moreover, African Americans with severe aortic stenosis were less likely to have bicuspid valve as their underlying etiology. This is consistent with the previously reported findings that African Americans have a drastically lower risk of bicuspid aortic valves …”

Section: Discussionsupporting

confidence: 94%

Racial Differences in the Prevalence of Severe Aortic Stenosis

Patel

Green

Fudim

et al. 2014

JAHA

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BackgroundIn an era of expanded treatment options for severe aortic stenosis, it is important to understand risk factors for the condition. It has been suggested that severe aortic stenosis is less common in African Americans, but there are limited data from large studies.Methods and ResultsThe Synthetic Derivative at Vanderbilt University Medical Center, a database of over 2.1 million de‐identified patient records, was used to identify individuals who had undergone echocardiography. The association of race with severe aortic stenosis was examined using multivariable logistic regression analyses adjusting for conventional risk factors. Of the 272 429 eligible patients (mean age 45 years, 44% male) with echocardiography, 14% were African American and 82% were Caucasian. Severe aortic stenosis was identified in 106 (0.29%) African‐American patients and 2030 (0.91%) Caucasian patients (crude OR 0.32, 95% CI [0.26, 0.38]). This difference persisted in multivariable‐adjusted analyses (OR 0.41 [0.33, 0.50], P<0.0001). African‐American individuals were also less likely to have severe aortic stenosis due to degenerative calcific disease (adjusted OR 0.47 [0.36, 0.61]) or congenitally bicuspid valve (crude OR 0.13 [0.02, 0.80], adjusted OR dependent on age). Referral bias against those with severe valvular disease was assessed by comparing the prevalence of severe mitral regurgitation in Caucasians and African Americans and no difference was found.ConclusionsThese findings suggest that African Americans are at significantly lower risk of developing severe aortic stenosis than Caucasians.

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Section: Discussionsupporting

confidence: 94%

Racial Differences in the Prevalence of Severe Aortic Stenosis

Patel

Green

Fudim

et al. 2014

JAHA

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“…24 It is postulated that some intrinsic factors within the aortic wall, such as the cross-linking of extracellular matrix, could increase the aortic stiffness and prevent aortic dilatation in women with BAV. 25 These findings suggest that the evaluation of men with BAV should have specific focus on aortic dimensions. Whether the surveillance should be different in men than in women remains unknown because this study was cross-sectional.…”

Section: Sex Differences In Aortic Dimensions and Aortopathymentioning

confidence: 98%

Sex Differences in Phenotypes of Bicuspid Aortic Valve and Aortopathy

Kong

Regeer

et al. 2017

Circ: Cardiovascular Imaging

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Background-This large multicenter, international bicuspid aortic valve (BAV) registry aimed to define the sex differences in prevalence, valve morphology, dysfunction (aortic stenosis/regurgitation), aortopathy, and complications (endocarditis and aortic dissection). Methods and Results-Demographic, clinical, and echocardiographic data at first presentation of 1992 patients with BAV (71.5% men) were retrospectively analyzed. BAV morphology and valve function were assessed; aortopathy configuration was defined as isolated dilatation of the sinus of Valsalva or sinotubular junction, isolated dilatation of the ascending aorta distal to the sinotubular junction, or diffuse dilatation of the aortic root and ascending aorta. New cases of endocarditis and aortic dissection were recorded. There were no significant sex differences regarding BAV morphology and frequency of normal valve function. When presenting with moderate/severe aortic valve dysfunction, men had more frequent aortic regurgitation than women (33.8% versus 22.2%, P<0.001), whereas women were more likely to have aortic stenosis (34.5% versus 44.1%, P<0.001). Men had more frequently isolated dilatation of the sinus of Valsalva or sinotubular junction (14.2% versus 6.7%, P<0.001) and diffuse dilatation of the aortic root and ascending aorta (16.2% versus 7.3%, P<0.001) than women. Endocarditis (4.5% versus 2.5%, P=0.037) and aortic dissections (0.5% versus 0%, P<0.001) occurred more frequently in men. Conclusions-Although there is a male predominance among patients with BAV, men with BAV had more frequently moderate/severe aortic regurgitation at first presentation compared with women, whereas women presented more often with moderate/severe aortic stenosis compared with men. Furthermore, men had more frequent aortopathy than women. (Circ Cardiovasc Imaging. 2017;10:e005155.

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“…Although this deletion is said to be present in unaffected individuals, BAV is typically not diagnosed until late adult life and would not affect reproductive fitness. Notably, African Americans have a lower frequency of the PCDHA deletion allele than do Europeans, and they also have a lower BAV incidence 42 ( P = 0.001). Mice with deletion of Pcdha2 through Pcdha11 (ref.…”

mentioning

confidence: 99%

The complex genetics of hypoplastic left heart syndrome

et al. 2017

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Congenital heart disease (CHD) affects up to 1 % of live births1. Although a genetic etiology is indicated by an increased recurrence risk2,3, sporadic occurrence suggests that CHD genetics is complex4. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS5–7. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD.

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Bicuspid Aortic Valve: Inter-Racial Difference in Frequency and Aortic Dimensions

Cited by 64 publications

References 34 publications

Racial Differences in the Prevalence of Severe Aortic Stenosis

Racial Differences in the Prevalence of Severe Aortic Stenosis

Sex Differences in Phenotypes of Bicuspid Aortic Valve and Aortopathy

The complex genetics of hypoplastic left heart syndrome

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