2016年 · 第44卷第12期

At present, what China needs to reform urgently is the "elite medicine" model in which urban hospitals highly monopolize medical resources, clinical disciplines are divided into more and more details, and experts in different fields dominate the right to speak. Its biggest disadvantage lies in abandoning the most affordable and effective suitable technology for the general public, especially the economically unaffluent groups, ignoring basic skills, overemphasizing or even exaggerating new drugs and technologies with rising costs, resulting in the increasing problems of difficult and expensive medical treatment. There is even a sharp interest game between the groups representing the health interests of the general public and the "medical elites" of the specialty of "elite medicine".

Cardiomyopathy refers to myocardial disease caused by various causes, often leading to cardiovascular disease-related death or progressive heart failure (heart failure), which can be divided into primary and secondary^[1]。 Many diseases can lead to serious structural and functional abnormalities of the myocardium, and then chronic heart failure, arrhythmia and other manifestations. Studies have confirmed that cardiac structure and function can return to normal after timely diagnosis and proper treatment of some cardiomyopathies^[2]reversible cardiomyopathies include tachycardiac cardiomyopathy, perinatal cardiomyopathy, infectious/inflammatory cardiomyopathy, metabolic cardiomyopathy, Takotsubo cardiomyopathy, chronic disease-induced cardiomyopathy, alcoholic cardiomyopathy, and the like.

LEOPARD syndrome is a rare autosomal dominant genetic disease that can involve multiple systems in the whole body. The main clinical manifestations include multiple lentigo-like nevus in the whole body, head and face deformities, cardiovascular system abnormalities, growth retardation, genital deformities and sensorineural deafness^[1]。 PTPN11 gene mutation is the main cause of LEOPARD syndrome^[2]。 The majority of patients were complicated with cardiovascular abnormalities, especially hypertrophic cardiomyopathy (HCM)^[3]Therefore, the disease has gradually attracted the attention of cardiovascular specialists. This paper introduces LEOPARD syndrome and its research progress.

A 23-year-old male was admitted to the hospital on 19 May 2015 due to "episodic palpitations for 2 years, aggravated for 1 month". Admission diagnosis: pre-excitation syndrome. Two years ago, the patient had sudden palpitations without obvious trigger, accompanied by chest tightness, no chest pain, no dizziness, amaurosis, confusion, no headache, no back pain and radiating pain in the left upper limb, which lasted for about 1 h and then relieved by itself. In the past month, the attack was more frequent than before, the duration was longer, up to several hours, and the attack occurred once in about 5 days. At the time of the attack, he went to the local hospital and was given propafenone (dose unknown) treatment, and then converted to sinus rhythm. The patient was previously in good health and denied diabetes, hypertension and family genetic history. Admission physical examination: general condition: 104/69 mmHg (1 mmHg =0.133 kPa), heart rate 72 beats/min, no jugular vein dilatation, no thoracic deformity, clear breathing sounds in both lungs, small heart boundary, heart rate 86 beats/min, uniform heart rhythm, and no pathological murmur in the auscultation area of each valve. Laboratory tests: No obvious abnormalities were found in the three routines, coagulation series, and liver and kidney function.

Case 1The 25-year-old male was admitted to the hospital on July 23, 2015 due to "intermittent dizziness, fatigue, amaurosis for more than 10 years and precordial discomfort for 2 months". The patient intermittently experienced dizziness, fatigue, amaurosis and tinnitus more than 10 years ago. Two months ago, chest tightness and shortness of breath, accompanied by back distension and discomfort, palpitations, and sometimes precordial pain, which can be relieved by itself after 2~3 minutes. After oral administration of isosorbide nitrate and propranolol and other drugs, the condition did not relieve, and then he could not lie down, and he was depressed. Admission physical examination: blood pressure 123/76 mmHg (1 mmHg =0.133 kPa); The lips are free of cyanosis; Bilateral jugular vein absence of dilatation; The breathing sounds of both lungs were clear, and no dry and wet rales were heard; There is no bulge in the precordial area, the apical beat is 1 cm within the fourth intercostal area of the left clavicular midline, the apical beat is not diffused, there is no tremor when touched, there is no pericardial friction sensation, the heart turbidity is not large, the heart rate is 65 beats/min, the heart rhythm is uniform, the heart sound is strong, P2 is enhanced, and the systolic and diastolic murmur of grade 3/6 can be heard in the 3rd and 4th intercostal areas of the left sternum, which are conducted to the apex; The abdomen is soft, and the liver and spleen are untouched under the costs; There was no edema in both lower limbs. There were no abnormalities in the ECG. Echocardiography showed that there were no abnormalities in the inner diameter and shape of each atrioventricular cavity, and no abnormalities in the thickness and echo of each ventricular wall, atrial and ventricular septum; No left-to-right shunt was seen in color Doppler; A hypoechoic mass can be seen in the posterior and upper part of the left atrium, with cluttered and uneven internal echoes, strong echoic spots can be seen around it, accompanied by acoustic shadows at the back, and no obvious blood flow signal can be seen in it, and no contrast agent enhanced echo can be seen after injection of contrast agent. Small amount of regurgitation of aortic and mitral valves. Enhanced multi-slice spiral CT scan of the heart showed that a huge tumor-like sac was visible between the left and right atrium, and it communicated with the left ventricular outflow tract. Most of the tumor protruded towards the right atrium, with a maximum diameter of 10.9 cm. The tumor wall was calcified and eggshell-like, and large thrombus was visible in the sac cavity (Figure 1)。 The patient was diagnosed with ventricular septal tumor.

Whether percutaneous coronary intervention (PCI) for patients with stable ST-segment elevation myocardial infarction (STEMI) complicated with multivessel disease is treated once or fractionally, and whether routine thromboaspiration is required before direct PCI has been controversial. In October 2015, the American College of Cardiology (ACC), the American Heart Association (AHA), and the Society for Cardiovascular Imaging and Interventional Therapy (SCAI) updated their guidelines published in 2011 and 2013 in light of the publication of several relevant clinical studies^[1]It is clearly suggested that a one-time management strategy can be adopted for patients with STEMI complicated with multi-vessel disease; For patients with STEMI, routine thromboaspiration strategy is not recommended. But the situation encountered in clinical practice is much more complex, so the problem needs to be viewed dialectically.

Heat-shock proteins (HSP) are an important class of endogenous protective proteins, which can be induced and expressed under various stress factors, so that the damaged proteins can restore their normal structure and function, resist external harmful stimuli, promote cell survival and adapt to the external environment. According to the relative molecular mass, HSPs can be divided into the following families, namely, HSP100, HSP90, HSP70, HSP60 and small heat shock proteins (SHSPs)^[1]。 Stress-inducible HSP70 (also known as HSP72) and structural HSC70 (HSP73) belong to two classes of highly homologous proteins^[2]。 SHSPs include HSPB5, HSPB8 (HSP22), HSPB1 (HSP27, HSP25), and the like^[3]。 Studies have confirmed that induction of heat shock response can play a protective role in various heart diseases^[4]。 Therefore, induction of cardiac HSP expression by special drugs is expected to be a new way to treat cardiac diseases. Previous studies have found that amphetamine, herbacillin A and dexamethasone can induce the expression of HSP in the heart^[5,6,7]However, there are serious adverse reactions, so the application is limited. Teprenone is a commonly used anti-gastric ulcer drug in clinic. In recent years, it has been found that it is also a HSP inducer without obvious adverse reactions. It can induce the expression of HSP in various tissues and organs and play a variety of protective roles.

Based on epidemiological studies showing that adverse events in the early fetus are associated with the prevalence of cardiovascular disease in adulthood, Barker^[1]The theory of fetal origin of cardiovascular diseases is proposed. Early epidemiological studies focused on serious clinical cardiovascular endpoint events, whereas advances in the detection of early cardiovascular changes believed to increase cardiovascular risk in adulthood^[2,3], providing the possibility of detecting early cardiovascular abnormalities and providing interventions to reduce cardiovascular prevalence and mortality in premature infants. This shift has been helped by preeclampsia offspring studies that have shown that preeclampsia offspring have an increased risk of stroke in adulthood^[4]And alterations in systemic and pulmonary circulation can be detected in childhood^[5]。

Data from the "Encyclopedia of DNA Elements" project show that 90 percent of the human genome has transcriptional functions^[1,2]。 In the human genome, less than 2% of RNA has the function of encoding proteins, and the rest is non-encoding RNA^[3]。 non-coding RNAs are divided into long non-coding RNAs (lncRNAs) and regulatory RNAs. The latter includes small interfering RNAs (siRNAs), microRNAs (miRNAs) and small nucleolar RNAs that have become familiar in recent ten years. Previous studies on non-coding RNAs have mainly focused on miRNAs (nucleotide length<200 nt), revealing its important role in cancer, metabolism, cardiovascular diseases, etc^[4]。 Initially, lncRNAs were thought to be the "noise" of genomic transcription and had no biological function. However, in recent years, experiments have proved that lncRNA is widely involved in the physiological and pathological regulation of the body, and is an important functional element in the development and maintenance of heart function^[5,6]。 The research progress of lncRNA in cardiac development and cardiac diseases is reviewed.

Vascular calcification is the deposition of calcium salts such as calcium phosphate and calcium carbonate between vascular cells and tissues, which is a process of extracellular matrix remodeling. It was previously believed that vascular calcification is heterotopic ossification occurring when the body ages, a degenerative manifestation of vascular disease progressing to the terminal stage, and a passive deposition process of calcium salts in intracellular and extracellular matrix caused by imbalance of calcium and phosphorus metabolism. However, recent studies have found that vascular calcification is not a simple and passive deposition of calcium phosphate crystals on the blood vessel wall, but rather an active, preventable and reversable highly regulable process similar to ossification during bone formation under physiological conditions.