Special Topic of 
Rare Cardiovascular
System Diseases
quarterly CN 10-1772/R ISSN 2097-0501 2023, Vol. 2, No. 1 01 2023

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Articles in press have been peer-reviewed and accepted, which are not yet assigned to volumes /issues, but are citable by Digital Object Identifier (DOI).
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2023, 2(1): .  
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Advances in the Diagnosis and Treatment of Rare Cardiovascular Diseases
ZHANG Shuyang, TIAN Zhuang, ZHANG Shuyuan, WANG Zeyuan
Abstract: The onset of rare cardiovascular diseases is early and the mortality is high. The patients of the disease face a long time of hardship in diagnosis and a low treatment rate. As a result, it is urgent to improve the diagnosis and treatment level of rare diseases and to accelerate the selection and R&D of drugs of rare cardiovascular diseases. In recent years, with the rapid development of new technology and basic research, the diagnosis and treatment of rare cardiovascular diseases have made breakthroughs. The article summarizes the research progress in diagnosis and treatment of rare cardiovascular diseases and looks into the future of the research. more>
2023, 2(1): 1-5.   doi: 10.12376/j.issn.2097-0501.2023.01.001
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Perspectives From Experts
Familial Hypercholesterolemia
FENG Siqin, TANG Muyun, WU Wei, ZHANG Shuyang
Abstract: Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society. more>
2023, 2(1): 6-16.   doi: 10.12376/j.issn.2097-0501.2023.01.002
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Perspectives From Experts
Chronic Thromboembolic Pulmonary Hypertension and ChronicThromboembolic Pulmonary Disease
HUANG Shenshen, QIU Jiayong, MAO Yimin
Abstract: Chronic thromboembolic pulmonary hypertension (CTEPH) and chronic thromboembolic pulmonary disease (CTEPD) are diseases that occur after acute pulmonary embolism resulting from residual and organized intra-pulmonary thrombus, with or without pulmonary hypertension(PH). The prognosis of these diseases has been dramatically improved with the continuous progress of treatment and the updated concept of the comprehensive treatment strategy. However, there is a lack of awareness of these diseases among medical practitioners, and a lack of epidemiological data in China, with unknown pathogenesis and non-specific clinical manifestations. Therefore, it is easy to misdiagnosis, underdiagnosis and delay diagnosis in clinical practice. To enhance the understanding of medical personnel, this paper summarizes the definition, epidemiology, pathology, pathogenesis, diagnosis and treatment of CTEPH and CTEPD. more>
2023, 2(1): 17-26.   doi: 10.12376/j.issn.2097-0501.2023.01.003
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Perspectives From Experts
Critical Management Strategies for Cardiovascular Involvementin Light Chain Amyloidosis
SHI Yunjing, JIN Wei
Abstract: Light chain amyloidosis (AL) is a kind of rare disease. The misfolding of the light chain of monoclonal immunoglobulin forms amyloid substances and deposit in different tissues and organs, resulting in organ dysfunction. The heart involvement is represented as light chain cardiac amyloidosis (AL-CA), leading to heart failure, arrhythmia, myocardial infarction, valvular and pericardial diseases. Cardiac involvement is crucial for the risk stratification and prognosis prediction of patients with AL. The median survival time of AL-CA patients is 24 months and only 6 months for the heart failure patients. In recent years, the prognosis of patients with AL-CA has been significantly improved, thanks to the advancement in diagnosis & treatment strategies of cardiac amyloidosis, the milestone in the breakthroughs in targeted therapy of AL, and the improvement of coordinated multidisciplinary treatment. This paper focuses on the cardiovascular involvement of AL and briefly illustrates the pathogenesis, clinical manifestations, and the diagnosis and treatment of AL-CA. more>
2023, 2(1): 27-35.   doi: 10.12376/j.issn.2097-0501.2023.01.004
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Perspectives From Experts
Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype
LIU Yanbo, TIAN Zhuang, ZHANG Shuyang
Abstract: Hypertrophic cardiomyopathy (HCM) is cardiomyopathy with a clinical phenotype of cardiac hypertrophy. The etiology includes genetically defective encoding sarcomeres, congenital metabolic diseases such as lysosomal storage diseases, systemic amyloidosis such as transthyretin amyloidosis(ATTR), and Fabry disease. Previous therapies did not target the etiology and pathogenesis and therefore were less effective. In recent years, treatments targeting different mechanisms of myocardial hypertrophy have achieved good results. Mavacamten can reduce myocardial contractility by inhibiting ATP activity, thereby significantly improving left ventricular outflow tract(LVOT) obstruction, cardiac contractility, ventricular tension, and limitting myocardial damage. By inhibiting the dissociation of transthyretin(TTR) and subsequent formation and deposition of the amyloid fibril, tafamidis can reduce the mortality and morbidity of patients with transthyretin cardiac amyloidosis(ATTR-CA). Gene silencing and gene editing technology can reduce abnormal TTR levels. Synthesis of α-galactosidase A by gene recombination technology in vitro can effectively reduce left ventricular mass index(LVMi), improve cardiac function, reduce angina attacks and decrease mortality of Fabry disease. more>
2023, 2(1): 36-42.   doi: 10.12376/j.issn.2097-0501.2023.01.005
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Original Articles
Preliminary Study on Quantitative Evaluation of Myocardial Fibrosis by CardiacMagnetic Resonance in Patients with Light Chain Cardiac Amyloidosis
GUO Yubo, WANG Xuezhu, LI Xiao, GAO Yajuan, TIAN Zhuang, LI Jian, HUO Li, WANG Yining
Abstract:   Objective  Myocardial fibrosis is a potential mechanism of light-chain myocardial amyloidosis(AL-CA). This research aimed at exploring the correlation between multiparameter cardiac magnetic resonance (CMR) and myocardial fibrosis by relating the CMR myocardial tissue characteristics, the morphological and the functional parameters with gallium-68-labeledfibroblast activation protein inhibitor 04 positron emission tomography (68Ga-FAPI PET).  Methods  We gave the patients diagnosed with AL-CA in Peking Union Medical College Hospital from August to December 2021 the examinations of CMR and 68Ga-FAPI PET/CT. We recorded and analyzed the information on clinical manifestations and examinations of the patients.  Results  A total of 23 patients with AL-CA were included, 15 (65.2%)of which were male and the mean age was 58.3±6.5 years. Patients with high 68Ga-FAPI-04 uptake had shown growth in myocardial extracellular volume (ECV), significantly higher than those in the negative group (P=0.047). In addition, patients' myocardial ECV was positively correlated with myocardial FAPI uptake (r=0.628, P=0.001;r=0.727, P < 0.001;r=0.661, P=0.001). Patients in the positive group showd reduced left ventricular (LV) ejection fraction (EF)(P < 0.001).LVEF (r=-0.798, P < 0.001;r=-0.794, P < 0.001; r=-0.795, P < 0.001) and right ventricular (RV)EF (r=-0.735, P < 0.001;r=-0.739, P < 0.001;r=- 0.684, P < 0.001) showd negatively correlated with myocardial FAPI uptake, LV circumferential strain (r=0.668, P < 0.001;r=0.708, P < 0.001;r=0.705, P < 0.001), LV longitudinal strain (r=0.629, P=0.001;r=0.635, P=0.001; r=0.597, P=0.003), and RV longitudinal strain (r=0.575, P=0.004; r=0.792, P < 0.001;r=0.673, P < 0.001) were negatively correlated with myocardial FAPI uptake.  Conclusions  FAPI-related fibroblast activation is concurrent with CMR-related abnormal myocardial interstitial characteristics that leads to the decreased function of the myocardial movement. Patients with increased FAPI uptake present with increased ECV, decreased EF, and decreased strain with morphological abnormalities. more>
2023, 2(1): 43-49.   doi: 10.12376/j.issn.2097-0501.2023.01.006
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Original Articles
Genetic Analysis of a Family with Mohr-Tranebjaerg Syndrome
GAO Ruzhen, FAN Yue, FAN Xinmiao, YANG Tengyu, SONG Wenjie, CHEN Xiaowei
Abstract:   Objective  Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare Mohr-Tranebjaerg syndrome.  Methods  We collected the clinical data of the family, did the whole exome sequencing on the proband Ⅲ6 with a rare mutation, and verified the mutation in another affected family member Ⅲ5 and unaffected members Ⅰ1, Ⅰ2, Ⅱ1, Ⅱ5, Ⅱ7, Ⅱ8, Ⅲ7.  Results  The patients in the family all showed early-onset deafness. More than a couple of affected male members have dystonia with/without mental disorders. Genetic testing results showed the proband Ⅲ6 had a c.133-2delA in TIMM8A (NM_ 004085.3, DDP1), highly likely pathogenic(LP). This variation was detected in affected Ⅲ5 as well as the unaffected females Ⅰ1, Ⅱ5, Ⅱ7.  Conclusions  MTS caused by the rare TIMM8A mutation, the molecular etiology of the family with this rare disease, is highly consistent with the clinical manifestations and segregation. Other than the deafness, other symptoms varied among the affected family members. Genetic diagnosis for such X-linked diseases can also identify female heterozygotes. Genetic and reproduction counseling can help families in the family planning. more>
2023, 2(1): 50-54.   doi: 10.12376/j.issn.2097-0501.2023.01.007
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MDT on Rare Disease Cases
A Case Report of Homozygous Familial Hypercholesterolemia Liver Transplantation
CHEN Peipei, TIAN Zhuang, CHEN Wei, MA Mingsheng, LIU Xin, QIN Yan, XU Haifeng, ZHU Zhijun, ZHANG Shuyang
Abstract: Homozygous familial hypercholesterolemia (HoFH) is a rare and serious autosomal genetic metabolic disease. Patients without intervention often die younger than 30 years old from early atherosclerotic cardiovascular disease (ASCVD)incurred by extremely high levels of low-density lipoprotein cholesterol (LDL-C). We present a case of HoFH, a child with compound heterozygous mutation in this study. The effect of conventional lipid-lowering therapy through diet control and lipid-lowering drugs was unsatisfactory. The blood-lipid purification proves effective but has poor compliance and difficult to maintain for a longer time. The patient received orthotopic liver transplantation and had been followed for 2 years, with the patient shows normal LDL-C, well growth and development. We hope the case will provide the clinician with better understanding of the diagnosis and treatment of the rare disease of HoFH. more>
2023, 2(1): 55-62.   doi: 10.12376/j.issn.2097-0501.2023.01.008
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Guideline and Consensus
The Interpretation and Update of the Diagnosis Pathway of Chinese Expert Consensus on the Diagnosis and Treatment of Transthyretin Cardiac Amyoidosis
TIAN Zhuang, ZHANG Shuyang
Abstract: Transthyretin cardiac amyloidosis (ATTR-CA) is caused by the deposition of transthyretin(TTR) in the myocardial interstitium. Its clinical manifestations are mainly heart failure and arrhythmia, leading to poor life quality and low survival rate. Diagnosis is often delayed or missed due to the lack of disease awareness, the non-specific clinical symptom presentation of the disease, and inadequacy of non-invasive diagnostic methods and medications in the past. The recent availability of effective treatments makes the early recognition and diagnosis especially critical, because treatment is likely more effective earlier in the disease course. Therefore, it is crucial to establish a diagnosis and treatment strategy to facilitate the rapid and accurate identification of the disease. Based on the advances in research and experiences gained ATTR-CA, our team has developed a consensus on diagnosis and treatment for the disease. In this article, we interpret the key points and present the update of diagnostic process, providing clinicians with an overview of key aspects of ATTR-CA in China. more>
2023, 2(1): 63-69.   doi: 10.12376/j.issn.2097-0501.2023.01.009
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Guideline and Consensus
Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy
Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy
Abstract: In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients. However, no clinical practice guideline has developed for the management of SMA in adults and adolescents patients. Experts of multidisciplinary from a number of tertiary medical centers in China who specialize in the diagnosis and treatment of SMA have come to an agreement based on evidence-based medicine. This guideline serves as instrumental reference for the standardized care of the Chinese SMA patients. more>
2023, 2(1): 70-84.   doi: 10.12376/j.issn.2097-0501.2023.01.010
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Images of Rare Diseases
An Early Onset of Myocardial Infarction Patient with Syphilis and Familial Hypercholesterolemia
Abstract: Syphilis may affect the cardiovascular system, in which coronary arteries are less commonly involved. Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease with elevated low-density lipoprotein-cholesterol (LDL-C) levels due to impaired LDL-C clearance. We report a young male patient with syphilis and FH. The clinical manifestations were acute myocardial infarction and high LDL-C levels. Coronary angiography and intracoronary imaging showed multiple aneurysmal ectasia and stenosis. A drug-eluting stent was implemented when recurrent restenosis occurred after two percutaneous coronary drug-eluting balloon angioplasties. more>
2023, 2(1): 85-87.   doi: 10.12376/j.issn.2097-0501.2023.01.011
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Images of Rare Diseases
Imaging Characteristics of Primary Cardiac Angiosarcoma
HU Tingting, GUO Lilin, ZHU Yuanyuan, TIAN Zhuang
Abstract: Primary cardiac angiosarcoma is a type of soft tissue sarcoma originating in vascular endothelial cells, without obvious gender differences in the incidence rate and specific early clinical manifestations, whilstpericardial effusion often found at the first presentation of most patients. Tumors are mostly located in the right atrium and pericardium. Echocardiography is the preferred examination method for diagnosing cardiac angiosarcoma and multimodal imaging is important in the diagnosis and differential diagnosis of benign and malignant cardiac mass. This article retrospectively analyzes the 25 cases of clinical manifestations and imaging features of primary cardiac angiosarcoma. more>
2023, 2(1): 88-97.   doi: 10.12376/j.issn.2097-0501.2023.01.012
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Spotlight on Orphan Drugs
Progress in RNA-targeting and Gene Editing Therapies for Transthyretin Amyloidosis Cardiomyopathy
NIU Ziran, HU Yang, LIU Qingyang, MA Yuanyuan, LIU Jianing, LIU Xin, ZHANG Bo
Abstract: Transthyretin(TTR) protein is a tetramer protein, synthesized mainly by the liver. TTR can be misfolded and deposited as amyloid fibrilae and deposited in the myocardial interstroma leading to transthyroxin amyloidosis cardiomyopathy (ATTR-CM). ATTR-CM was included in China's First List of Rare Diseases. Therapeutic strategies for ATTR-CM include blocking TTR synthesis in the liver, stabilizing TTR tetramers and destroying TTR fibra. Small molecule drugs such as tafamidis and diflunisal offer new treatment options for patients. Chlorobenzolic acid became the first drug approved by the U.S. Food and Drug Administration for the treatment of ATTR-CM. Small interfering RNA(siRNA)patisiran and antisense oligonucleotide (ASO)inotersen block TTR expression in the liver and have been approved for the treatment of ATTR variant polyneuropathy (ATTRv-PN)and are in phase Ⅲ trials for the treatment of ATTR-CM. Other siRNA drugs, vutrisiran, and ASO, eplontersen, are being evaluated for clinical efficacy. This article reviews the development of RNA-targeted therapeutics and gene-editing drugs using CRISPR-Cas9. more>
2023, 2(1): 98-104.   doi: 10.12376/j.issn.2097-0501.2023.01.013
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