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乙酰肝素酶 1

心脏代谢 1

糖尿病性心肌病 1

脂蛋白脂肪酶 1

血管内皮生长因子 1

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Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

《医学前沿（英文）》页码 768-780 doi: 10.1007/s11684-023-0982-1

摘要： Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

关键词： machine learning methods hypertrophic cardiomyopathy genetic risk

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Primary hypertrophic osteoarthropathy: an update

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《医学前沿（英文）》 2013年第7卷第1期页码 60-64 doi: 10.1007/s11684-013-0246-6

摘要：

Digital clubbing, which has been recognized as a sign of systemic disease, is one of the most ancient diseases. However, the pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood. The study of a clinically indistinguishable idiopathic form (primary hypertrophic osteoarthropathy, PHO) provides an opportunity to understand the pathogenesis of hypertrophic osteoarthropathy. Current advances in the study of PHO are discussed. The impaired metabolism of prostaglandin E2 (PGE2) plays a central role in its pathogenesis.

关键词： digital clubbing primary hypertrophic osteoarthropathy prostaglandin E2 (PGE2)

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Hyperglycemic memory in diabetic cardiomyopathy

《医学前沿（英文）》 2022年第16卷第1期页码 25-38 doi: 10.1007/s11684-021-0881-2

摘要： Cardiovascular diseases account for approximately 80% of deaths among individuals with diabetes mellitus, with diabetic cardiomyopathy as the major diabetic cardiovascular complication. Hyperglycemia is a symptom that abnormally activates multiple downstream pathways and contributes to cardiac hypertrophy, fibrosis, apoptosis, and other pathophysiological changes. Although glycemic control has long been at the center of diabetes therapy, multicenter randomized clinical studies have revealed that intensive glycemic control fails to reduce heart failure-associated hospitalization and mortality in patients with diabetes. This finding indicates that hyperglycemic stress persists in the cardiovascular system of patients with diabetes even if blood glucose level is tightly controlled to the normal level. This process is now referred to as hyperglycemic memory (HGM) phenomenon. We briefly reviewed herein the current advances that have been achieved in research on the underlying mechanisms of HGM in diabetic cardiomyopathy.

关键词： diabetes diabetic cardiomyopathy hyperglycemic memory

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Sudden death due to arrhythmogenic right ventricular cardiomyopathy: Two case reports

CHEN Xinshan, ZHANG Yigu, RAO Guangxun, HUANG Guangzhao

《医学前沿（英文）》 2007年第1卷第3期页码 338-342 doi: 10.1007/s11684-007-0065-8

摘要： Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a kind of primary myocardial disease characterized by the regional or global replacement of right ventricular myocardium by fatty and fibrolipomatous tissues. The ARVC, usually presenting with different clinical manifestations and pathological changes, were mainly seen in young men and is one of the main causes of sudden death in the young. Here two autopsied cases of Chinese men aged 30 and 23 years old who appeared healthy but died suddenly while at work are reported respectively. One of the victims had extensive and severe pathological changes in his heart involving the left ventricular wall as well as the ventricular septum and the right atrium. Not only was there a global fatty and fibrolipomatous tissue replacement of the right ventricular myocardia, but also mild sarcoplasmic coagulation in the myocardium and focal lymphocytic infiltration in the myocardial interstitium of the right ventricular wall. In addition, slight atherosclerosis of the coronary artery and intimal thickening of the sino-atrial node were observed. It is believed that there are no marked differences in the pathological changes of ARVC between Chinese patients and patients from western countries. The etiology and pathogenesis of ARVC could not be explained by a single cause or factor and they are probably related to various congenital and acquired causes or factors.

关键词： sarcoplasmic coagulation acquired ventricular myocardium sino-atrial autopsied

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Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always

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《医学前沿（英文）》 2017年第11卷第2期页码 293-296 doi: 10.1007/s11684-017-0516-9

摘要：

Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium. Tissue Doppler showed a restrictive filling pattern. Transthyretin (TTR)-associated amyloidosis, which was revealed by abdominal fat-pad biopsy and DNA analysis, explained the concurrence of independent pathological features, including neuropathy and cardiac involvement. Genetic testing identified a G>T mutation in exon 4 of the transthyretin (TTR) gene. This mutation resulted in the alanine-to-serine substitution at amino acid position 117. Moreover, genetic testing confirmed that the patient’s asymptomatic son carried the same amyloidogenic TTR mutation. Given these findings, the diagnosis of familial amyloid cardiomyopathy, which was misdiagnosed as chronic Guillain-Barre syndrome, was proposed.

关键词： transthyretin (TTR) cardiac amyloidosis sick sinus syndrome chronic Guillain-Barre syndrome

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Incremental value of contrast echocardiography in the diagnosis of left ventricular noncompaction

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《医学前沿（英文）》 2016年第10卷第4期页码 499-506 doi: 10.1007/s11684-016-0473-8

摘要：

Contrast echocardiography with left ventricular opacification (LVO) improves the definition of endocardium in two-dimensional echocardiography (2DE). This study was aimed to determine whether LVO offered added diagnostic value in noncompaction of left ventricular myocardium (NCVM). A total of 85 patients (40±20 years, 54 males) with suspected NCVM were subjected to transthoracic 2DE and LVO, and 40 healthy volunteers were examined with 2DE and assigned as control subjects. The location of NCVM, the thickness ratio of noncompacted to compacted myocardium (NCR), and the cavity size and ejection fraction of LV were quantified. Results revealed that NCVM was mainly located in the LV medium (53.2%), apical (46.2%) segments, and lateral wall (39.8%). The NCR obtained through LVO was greater than that detected through 2DE (4.2±1.3 vs. 3.3±1.2, P<0.001), and higher inter-correlations and less intra- and inter-observer variabilities were determined in the former than in the latter. The NCVM detection rates were also increased from 63.5% via 2DE to 83.5% via LVO and 89.4% via 2DE combined with LVO (2DE+ LVO) (P = 0.0004). The LV cavity size was greater and the LV ejection fraction (LVEF) was lower in the NCVM patients than in the control group (P<0.01). In the NCVM group, the LV cavity size was higher and the LVEF was lower in LVO than in 2DE (P<0.01). In conclusion, contrast echocardiography contributes significant sensitivity and reproducibility to routine transthoracic echocardiography in NCVM diagnosis. Therefore, this technique should be clinically performed to diagnose suspected NCVM.

关键词： echocardiography left ventricular noncompaction cardiomyopathy echo contrast media

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糖尿病发作后心脏脂蛋白脂肪酶的变化 Review

Chae Syng Lee, Yajie Zhai, Brian Rodrigues

《工程（英文）》 2023年第20卷第1期页码 19-25 doi: 10.1016/j.eng.2022.06.013

摘要：

由于心脏持续地收缩和舒张，需要大量的能量，其中脂肪酸（FA）是其三磷酸腺苷（ATP）的主要来源。但是，心脏无法制造这种底物，而是从多种来源获得脂肪酸，包括通过脂蛋白脂肪酶（LPL）的作用。脂蛋白脂肪酶在心肌细胞中产生，随后分泌到质膜上的硫酸乙酰肝素蛋白聚糖（HSPG）结合位点。然后为了将脂蛋白脂肪酶转移到内皮细胞管腔，糖基磷脂酰肌醇锚定的高密度脂蛋白结合蛋白1（GPIHBP1）与间质性脂蛋白脂肪酶结合，并将其转移到血管管腔，在那里脂蛋白脂肪酶可将循环中的甘油三酯分解为脂肪酸。内源性-β-葡萄糖醛酸酶乙酰肝素酶（Hpa）的独特之处在于，它是唯一已知的哺乳动物酶，可以裂解硫酸乙酰肝素，从而促进上述脂蛋白脂肪酶从心肌细胞HSPG中释放。在糖尿病中，一直认为心脏产生能量方式的改变是导致糖尿病性心肌病（DCM）的原因。糖尿病发展到中度后，随着葡萄糖利用率的降低，由于Hpa 作用的增强，心脏血管腔内的脂蛋白脂肪酶活性得到增强。虽然这种适应可能有助于补偿心脏对葡萄糖的利用不足，但从长期来看，它是具有毒性的，因为有害的脂质代谢物积聚，以及脂肪酸氧化增强和因此造成的氧化应激，最终导致细胞死亡。这与一种心脏保护生长因子——血管内皮生长因子B（VEGFB）的丧失同时发生。本文探讨了乙酰肝素酶、脂蛋白脂肪酶和血管内皮生长因子B之间的相互联系及其在糖尿病性心肌病中的潜在影响。鉴于缺乏基于机制的DCM治疗，了解这种心肌病的病理，以及脂蛋白脂肪酶的作用，将有助于我们推进其临床治疗。

关键词：心脏代谢脂蛋白脂肪酶乙酰肝素酶血管内皮生长因子糖尿病性心肌病