Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report

Chowdhury, Ujjwal K.; Chauhan, Abhinavsingh; Hasija, Suruchi; Jena, Jhulana Kumar; Sankhyan, Lakshmi Kumari; Phulware, Ravi Hari

doi:10.1177/2150135118783639

Cited by 3 publications

(6 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As a result, there is improved LV mass regression, postoperative functional class/exercise tolerance, and both early and late survival. 1 , 7 , 19 , 20 , 21 , 22 , 23 …”

Section: Discussionmentioning

confidence: 99%

“…The surgical risk of this procedure includes injury to the septal perforators, conduction system, and places the patient at risk of intracameral fistulae. 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 …”

Section: Discussionmentioning

confidence: 99%

“…As a result, there is improved LV mass regression, postoperative functional class/exercise tolerance, and both early and late survival. 1,7,[19][20][21][22][23] Definitions of PPM in the published literature range from an indexed orifice area of 0.6 cm 2 /m 2 to 0.85 cm 2 /m 2 as well as dispute over the more appropriate measure of orifice area (geometric or effective). 15,24,25 Pibarot and colleagues 4 have demonstrated that indexed geometric orifice area grossly overestimates PPM and correlates poorly with the iEOA and therefore should not be used to identify patients with high transvalvular gradients as the basis of PPM.…”

Section: Discussionmentioning

confidence: 99%

“…In this study population, 78 (67.8%) patients underwent standard Nicks' procedure of ARE and 37 (32.2%) patients underwent modified Nicks' procedure on an individualized basis. 7 , 9 , 17 , 19 The technical details of both techniques have been addressed in our previous publications. 17 , 19 The most significant preoperative patient characteristics are summarized in Table 1 .…”

Section: Methodsmentioning

confidence: 99%

“… 7 , 9 , 17 , 19 The technical details of both techniques have been addressed in our previous publications. 17 , 19 The most significant preoperative patient characteristics are summarized in Table 1 .…”

Section: Methodsmentioning

confidence: 99%

See 4 more Smart Citations

Early evaluation of the aortic root after Nicks' procedure

et al. 2020

Self Cite

View full text Add to dashboard Cite

Objective(s) To determine the influence of surgical techniques adopted to avoid suture line disruption, periprosthetic leakage, patch dislodgement, pericardial patch aneurysm formation, and the long-term stability of aortic root enlargement (ARE) during aortic valve replacement (AVR). Methods One hundred fifteen patients undergoing AVR or combined aortic and mitral valve replacements with Nicks' posterior ARE between 1997 and 2019 underwent long-term echocardiographic and angio-computed tomographic evaluation. Age was 11-72 years (AVR: median, 30; interquartile range, 21-47 years; AVR and mitral valve replacement: median, 27.5; interquartile range, 20-37.5 years). The aortotomy was closed using autologous pericardial patch and Teflon-buttressed sutures. Results Hospital mortality was 1.7% (n = 2), with 4 (3.5%) late deaths. At a mean follow-up of 123.11 ± 77.67 months, the survival probability from Kaplan–Meier was 93.25 ± 0.03%. No cases of severe prosthesis–patient mismatch (PPM) were observed, and only 2 patients had moderate PPM. Median aortic root diameters at the level of sinus of Valsalva and sinotubular junction were 32 (29-35) mm and 33 (30-36) mm, respectively, at discharge, and were 33 (30-36) mm, and 33 (31-37) mm, respectively, at latest follow-up, with no cases of late pericardial patch aneurysm. Conclusions ARE is a safe adjunct to AVR in patients with a small aortic annulus to prevent PPM. Retention of a pericardial collar and Teflon-buttressed sutures is an expedient, safe, and effective technique in reducing bleeding at the enlarged ventriculo-aortic junction. Autologous pericardial patch aortoplasty is not associated with late aneurysm/pseudoaneurysm formation.

show abstract

“…As a result, there is improved LV mass regression, postoperative functional class/exercise tolerance, and both early and late survival. 1 , 7 , 19 , 20 , 21 , 22 , 23 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 3 more Smart Citations

Early evaluation of the aortic root after Nicks' procedure

et al. 2020

Self Cite

View full text Add to dashboard Cite

show abstract

Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia

Cheng

Shen

et al. 2020

Journal of Cardiovascular Pharmacology

View full text Add to dashboard Cite

Familial hypercholesterolemia (FH) is a rare autosomal gene deficiency disease with increased low-density lipoprotein cholesterol, xanthoma, and premature coronary heart disease. Calcified aortic valve disease (CAVD) is prevalent in FH patients, resulting in adverse events and heavy health care burden. Aortic valve calcification is currently considered an active biological process, which shares several common risk factors with atherosclerosis, including aging, hypertension, dyslipidemia, and so on. Unfortunately, the pathogenesis and therapy of CAVD in FH are still controversial. There is no pharmacological intervention recommended to delay the development of CAVD in FH, and the only effective treatment for severe CAVD is aortic valve replacement. In this review, we summarize the detailed description of the pathophysiology, molecular mechanism, risk factors, and treatment of CAVD in FH patients.

show abstract

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia

Zakharova,

Shevchenko,

Arssan

et al. 2024

IJMS

View full text Add to dashboard Cite

Defects in the low-density lipoprotein receptor (LDLR) are associated with familial hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease. LDLR deficiency in hepatocytes leads to elevated blood cholesterol levels, which damage vascular cells, especially endothelial cells, through oxidative stress and inflammation. However, the distinctions between endothelial cells from individuals with normal and defective LDLR are not yet fully understood. In this study, we obtained and examined endothelial derivatives of induced pluripotent stem cells (iPSCs) generated previously from conditionally healthy donors and compound heterozygous FH patients carrying pathogenic LDLR alleles. In normal iPSC-derived endothelial cells (iPSC-ECs), we detected the LDLR protein predominantly in its mature form, whereas iPSC-ECs from FH patients have reduced levels of mature LDLR and show abolished low-density lipoprotein uptake. RNA-seq of mutant LDLR iPSC-ECs revealed a unique transcriptome profile with downregulated genes related to monocarboxylic acid transport, exocytosis, and cell adhesion, whereas upregulated signaling pathways were involved in cell secretion and leukocyte activation. Overall, these findings suggest that LDLR defects increase the susceptibility of endothelial cells to inflammation and oxidative stress. In combination with elevated extrinsic cholesterol levels, this may result in accelerated endothelial dysfunction, contributing to early progression of atherosclerosis and other cardiovascular pathologies associated with FH.

show abstract

Aortic Root Enlargement and Aortic Valve Replacement for Calcified Supravalvular and Valvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: A Case Report

Cited by 3 publications

References 6 publications

Early evaluation of the aortic root after Nicks' procedure

Early evaluation of the aortic root after Nicks' procedure

Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia

Contact Info

Product

Resources

About