The truth behind the "cursed" family is shocking!

Grandfather, father, uncle, and 27-year-old sister all died suddenly one after another, and Xiao Li's family seemed to be cursed. The villagers talked about it and thought that Xiao Li's family must have been "punished by God", so they avoided them. Why did this strange "curse" come true again and again in Xiao Li's family? What secrets does his family hide?

There is only one truth . Further family investigation at the hospital revealed that Xiao Li's family may suffer from a genetic disease - hypertrophic cardiomyopathy , which may be the culprit of this mysterious curse.

Just looking at the name of the disease, you may have questions: What is myocardium? Why is myocardium thick? What's wrong with thick myocardium? ... Don't worry, we have sorted out the relevant knowledge points. Today, let's talk about what hypertrophic cardiomyopathy (HCM, hereinafter referred to as hypertrophic heart disease) is all about!

Part 1 : What is myocardium?

The heart, which looks like a peach and is about the size of our fist , works diligently every moment to maintain our life activities.

The myocardium is the muscle tissue that makes up the heart. It relies on powerful and regular contraction and relaxation to pump blood into the arteries and transport it to the entire body.

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Part 2 : What is myocardial hypertrophy?

The heart is like a house, and the myocardium can be understood as the wall of the house. Myocardial hypertrophy means that the wall of the house has become thicker .

In theory, thicker muscles should be a good thing, after all, they are more powerful when pumping blood, but this is not the case. Myocardial hypertrophy does not mean that the muscles become stronger, but that the muscles of the ventricular wall become bloated . They look strong but are actually useless . The thickened ventricular wall is like a thickened "wall" , which takes up the building area of ​​the house and makes the usable space smaller.

This reduces the amount of blood that the ventricles can accommodate and the amount of blood that the heart pumps to the body with each beat. As a result, the diastolic function of the ventricles gradually declines, leading to insufficient blood supply to the body and brain, and less and less cardiac output. This manifests as dyspnea, palpitations, dizziness, and even fainting. Sudden death (i.e., sudden and unexpected death) may occur during strenuous exercise or when the myocardium is overloaded.

It is worth noting that not all patients with hypertrophic cardiomyopathy have the same risk of sudden death. For some patients, there may be no symptoms at ordinary times, but the first symptom is sudden death.

Part 3 : How does the myocardium become enlarged?

The "fatness" of heart disease is not caused by eating, but is "destined". It is a genetic disease. The incidence of this disease in the population is about 0.2%. The incidence of patients with a family history can be as high as 30%. Nearly half of the patients have family clustering , which means that there may be multiple patients with heart disease in the same family , and the age at which symptoms appear, the speed of disease progression and the severity of the disease in patients with heart disease in the same family vary greatly. Most patients are asymptomatic or have mild symptoms , but all have abnormal diastolic function, which is accidentally discovered during electrocardiogram or echocardiogram examinations. Some patients may have symptoms such as dyspnea and chest pain, while some patients have sudden cardiac death (SCD) as the first manifestation .

Because fatty heart disease is a hereditary disease, the Li family in the opening chapter all unfortunately "suffered from it". Only by uncovering the so-called "curse" can we scientifically choose ways to prevent and treat the disease. So how can we prevent and treat hereditary diseases?

Part 4 : How to prevent it?

When it comes to prevention, you may think of going to the hospital for a physical examination such as an electrocardiogram to see if there are any problems. Of course, regular physical examinations are very necessary, but it should be noted that in the early stages of hypertrophic heart disease, routine tests may not reveal lesions, which may delay the best treatment time for the disease . At this time, the significance of genetic testing is very important. According to research, early genetic screening has extremely high diagnostic accuracy and is the gold standard for the diagnosis of hypertrophic cardiomyopathy . In addition, hypertrophic cardiomyopathy may have similar manifestations to other types of diseases (such as coronary heart disease, ventricular septal defect, etc.), which may be easily confused during clinical diagnosis. Genetic testing can assist in differential diagnosis and guide precision medicine . In addition to assisting in early diagnosis and differential diagnosis, genetic testing can also identify high-risk individuals who may develop hypertrophic heart disease in the family through a clear genetic basis. Therefore, it not only helps the patient himself, but also helps his family to achieve early diagnosis and early treatment, and minimize the harm caused by the disease. Therefore, genetic testing plays an important role in the diagnosis and management of patients with hypertrophic heart disease and their relatives.

Therefore, it is recommended that members with a family history of hypertrophic heart disease "group up" for genetic testing. At the same time, for asymptomatic carriers of pathogenic variants in the family, it is recommended to undergo an echocardiogram at least once every 5 years before the onset of symptoms, and to undergo an echocardiogram immediately if symptoms such as chest tightness and syncope occur. If heart disease is found, preventive medication is required to delay the course of the disease, and competitive sports and heavy physical activities should be avoided to prevent sudden death.

In addition, if individuals carrying pathogenic variants have fertility needs, they can consider prenatal diagnosis or preimplantation genetic diagnosis to prevent their offspring from carrying pathogenic variants, block the transmission of the disease in the family, and prevent tragedy from happening again.

Part 5 : Other medical advice

The treatment principle of hypertrophic heart disease is to improve symptoms, reduce complications, and prevent sudden death. Treatment of hypertrophic heart disease includes drug therapy, non-drug therapy, surgical treatment, and interventional therapy. Drug treatment for patients with hypertrophic heart disease should be systematic and standardized, and should be guided by the patient's specific condition and combined with genetic test results to ensure safe medication.

Patients diagnosed with hypertrophic heart disease should participate in low- to moderate-intensity exercise according to the doctor's clinical advice to improve cardiopulmonary function. What humans fear most is the unknown. For genetic diseases, as long as we understand their true nature and make a clear diagnosis, we can better deal with them.

Life is alive with every beat of it, and it beats with your careful care. To protect the heart, we can also start from the little things in our daily life:

I hope everyone is healthy and away from genetic diseases.