Related Experiment Video

Updated: Jan 31, 2026

Full-root Aortic Valve Replacement by Stentless Aortic Xenografts in Patients with Small Aortic Roots
12:17

Full-root Aortic Valve Replacement by Stentless Aortic Xenografts in Patients with Small Aortic Roots

Published on: May 21, 2017

11.9K

Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene

Rafal Gałąska1, Dorota Kulawiak-Gałąska2, Magdalena Chmara3

  • 11st Department of Cardiology, Medical University of Gdansk, Gdansk, Poland.

Plos One
|December 29, 2018
PubMed

Insights

Patients with familial hypercholesterolemia and a low-density lipoprotein receptor gene mutation (LDLR-M) have significantly higher aortic valve calcium scores (AVCS) than those without the mutation (LDLR-WT). LDLR mutation is an independent risk factor for increased AVCS.

Area of Science:

  • Cardiology
  • Genetics
  • Radiology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder characterized by high LDL cholesterol.
  • Low-density lipoprotein receptor (LDLR) gene mutations are a common cause of FH.
  • Aortic valve calcification (AVC) is a serious complication of hypercholesterolemia.

Purpose of the Study:

  • To compare aortic valve calcium scores (AVCS) between patients with FH and LDLR gene mutations (LDLR-M) versus those with hypercholesterolemia but without LDLR mutations (LDLR-WT).
  • To determine if LDLR mutation is an independent predictor of high AVCS.

Main Methods:

  • Retrospective study comparing 72 LDLR-M patients and 50 LDLR-WT patients.
  • All patients underwent CT scans for coronary calcium scoring.
  • Aortic valve calcium scores (AVCS) were measured and compared between groups.

Main Results:

  • AVCS was significantly higher in the LDLR-M group (13.8 ± 37.9) compared to the LDLR-WT group (0.94 ± 3.1) (p=0.03).
  • LDLR mutation was a strong predictor of high AVCS (OR 7.83, p=0.002), independent of traditional risk factors.
  • Age and systolic blood pressure were also significant predictors of high AVCS.

Conclusions:

  • Patients with LDLR gene mutations exhibit increased aortic valve calcification.
  • LDLR mutation is an independent risk factor for elevated AVCS, potentially due to LDLR's role in aortic valve calcification.
  • These findings highlight the importance of genetic screening in hypercholesterolemia management.

More Related Videos

Standardized Technique of Aortic Valve Re-implantation for Valve-sparing Aortic Root Replacement14:14

Standardized Technique of Aortic Valve Re-implantation for Valve-sparing Aortic Root Replacement

Published on: December 11, 2017

14.7K
Isolation of Mouse Interstitial Valve Cells to Study the Calcification of the Aortic Valve In Vitro05:47

Isolation of Mouse Interstitial Valve Cells to Study the Calcification of the Aortic Valve In Vitro

Published on: May 10, 2021

4.7K

Related Concept Videos

Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.2K
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
485
Mutations01:39

Mutations

Overview
94.5K
Receptor-mediated Endocytosis01:39

Receptor-mediated Endocytosis

Overview
110.9K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Introduction to z Scores01:06

Introduction to z Scores

A z score (or standardized value) is measured in units of the standard deviation. It tells you how many standard deviations the value x is above (to the right of) or below (to the left of) the mean, μ. Values of x that are larger than the mean have positive z scores, and values of x that are smaller than the mean have negative z scores. If x equals the mean, then x has a zero z score. It is important to note that the mean of the z scores is zero, and the standard deviation is one.
z scores...
11.2K