How to diagnose the "killer" of sudden death in young people? Zhongshan Hospital first proposed the results of "Gene Echocardiography" in an authoritative journal titled "Hypertrophic Type | Echocardiography Room | Gene"
The silent killer hidden behind the sudden collapse of young people is likely hereditary hypertrophic cardiomyopathy, which is one of the most common causes of sudden death in young people. How to accurately diagnose this disease and save more young lives?
Recently, Professor Shu Xianhong's team from the Ultrasound Department of Zhongshan Hospital affiliated with Fudan University published their research findings in the international authoritative academic journal of cardiovascular disease, the Cardiovascular Imaging Sub Journal of the European Journal of Cardiology, stating that genetic echocardiography significantly improves the diagnostic efficiency of hereditary hypertrophic cardiomyopathy. The team first proposed the concept of "gene cardiac ultrasound" internationally, innovatively drawing a gene cardiac ultrasound map of hypertrophic cardiomyopathy. This plan will significantly improve the accuracy and efficiency of diagnosis.
It is reported that hypertrophic cardiomyopathy is the most common inherited heart disease and also the most complex type of disease. This disease is the main cause of sudden death among young people, causing a heavy burden and great harm to society and families. Although traditional cardiac ultrasound is the preferred imaging diagnostic method, the accuracy of diagnosis has been hovering around 62% due to the complexity of cardiomyopathy.
In this context, Professor Shu Xianhong has been gathering the strength of the group team since 2015 to conduct in-depth research on the pathogenic genes of hereditary cardiovascular disease. The team innovatively combined genetics with echocardiography, which is not just a simple addition, but also mutual verification and supplementation, significantly improving diagnostic accuracy from 62% to 96%.
![How to diagnose the "killer" of sudden death in young people? Zhongshan Hospital first proposed the results of "Gene Echocardiography" in an authoritative journal titled "Hypertrophic Type | Echocardiography Room | Gene"](https://a5qu.com/upload/images/59da639ecdde29caa63fc3a7c4c4cf3f.png)
Shu Xianhong said, "The genetic heart ultrasound diagnostic method is not simply the sum of the two or 1+1>2, but 1+1=diagnosis. It perfectly combines genotype and cardiac phenotype diagnosis, especially in diagnosing rare cardiovascular diseases such as FABRY, ATTR, DANON, etc. This method shows great advantages."
In order to facilitate the diagnosis of hypertrophic cardiomyopathy by clinical doctors, the team used ultrasound to accurately depict the segmental hypertrophy pattern of hypertrophic cardiomyopathy, providing a precise portrait of each pathogenic gene. This not only facilitates the development of personalized diagnosis and treatment plans for clinical patients, but also facilitates the interpretation of clinical genetic information, especially in screening, diagnosing and assisting reproduction of family genetic genes, preventing the deterioration of the disease, and blocking the inheritance of the disease, all of which play an important role.
The Ultrasound Room of Zhongshan Hospital Affiliated to Fudan University was established in 1984 and is one of the earliest cardiac ultrasound diagnostic centers established in China. After nearly 40 years of continuous exploration and accumulation, the cardiac ultrasound team at Zhongshan Hospital has become increasingly strong. In June of this year, the cardiac ultrasound team actively participated in the 34th academic conference of the American Society of Echocardiography, the world's largest cardiac imaging organization, and won widespread praise from experts and scholars worldwide for its outstanding scientific research performance as the world's largest accepted manuscript.