在遗传性心血管疾病中基因检测的临床影响:一项14年后期研究

Steffany Grondin1, Benjamin Neveu2, Iness Soltani1

  • 1Faculty of Medicine, University of Montreal, Montreal, Quebec, Canada; Cardiovascular Genetics Centre, Montreal Heart Institute, Montreal, Quebec, Canada.

概括

遗传性心脏病,如心肌病和心律失常等遗传性心脏病的基因检测非常有效,在24%的患者中识别出导致疾病的变体. 当地人口数据改善了基因变异的解释,有助于临床管理和家庭查.

相关概念视频

Assessment of the Cardiovascular System I: Subjective Data01:23

Assessment of the Cardiovascular System I: Subjective Data

A thorough health history and physical assessment are essential for identifying cardiovascular disease (CVD) symptoms and distinguishing them from other health issues.
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
Medical History
Investigate past illnesses affecting the cardiovascular system, such as angina, anemia, rheumatic fever, congenital heart disease, stroke, thrombophlebitis, dysrhythmias, varicosities
Inquire about symptoms...
256
Pedigree Analysis01:35

Pedigree Analysis

Overview
83.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.3K
Exercise and Cardiovascular Response01:20

Exercise and Cardiovascular Response

Exercise significantly impacts cardiovascular response, which is crucial for understanding patient health and designing effective treatment plans.
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
687
Cardiovascular Drugs: Classification based on Therapeutic Indications01:18

Cardiovascular Drugs: Classification based on Therapeutic Indications

Cardiovascular diseases, encompassing a range of conditions, can significantly affect the heart's operations and the overall circulatory system. These conditions impair the heart's ability to pump blood, leading to a deficit in oxygen supply to crucial organs. Anomalies in the heart's electrical system, known as arrhythmias, can cause heartbeats to accelerate or slow down. Usually, heart rates increase during physical activity and decrease while resting or sleeping. However,...
2.0K