Methodist DeBakey cardiovascular journal最新文献_第2页

Cardiovascular Disorders Associated with a Genetic Component. 与遗传成分相关的心血管疾病。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1923

Robert Roberts

引用次数: 0

Familial Hypercholesterolemia. 家族性高胆固醇血症。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1860

Iulia Iatan, Jacques Genest

{"title":"Familial Hypercholesterolemia.","authors":"Iulia Iatan, Jacques Genest","doi":"10.14797/mdcvj.1860","DOIUrl":"10.14797/mdcvj.1860","url":null,"abstract":"Familial hypercholesterolemia (FH) is a semi-dominant, autosomal, monogenic lipoprotein disorder characterized by severe elevations in low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease (ASCVD). The most common form, heterozygous FH, has an estimated prevalence of approximately 1 per 311 individuals, making it one of the most common hereditary disorders in medicine. FH is caused by pathogenic variants in the LDL receptor (LDLR) gene, or in genes encoding proteins involved in receptor-mediated LDL particle uptake, including apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). Other genes account for a minority of cases. Diagnosis is based on LDL-C levels, a family history of elevated LDL-C or premature ASCVD, supportive physical findings such as tendinous xanthomas, and, when available, molecular confirmation of a pathogenic FH-causing variant. Prompt recognition and treatment with statins, often combined with ezetimibe, modifies the natural course of the disease. Sex differences in FH diagnosis and treatment are widely reported, with women diagnosed later and treated less intensively than men. PCSK9 inhibitors are often required in patients with FH who meet criteria for treatment intensification. In statin-intolerant patients, bempedoic acid may provide additional therapeutic options. The most severe form, homozygous FH (HoFH), has an estimated prevalence of ~1 in 367,000 individuals and is associated with ASCVD in youth, calcific aortic stenosis, and a markedly reduced life expectancy. Patients with HoFH require specialized care and may need LDL apheresis and specific orphan drugs such as lomitapide or evinacumab.","PeriodicalId":39207,"journal":{"name":"Methodist DeBakey cardiovascular journal","volume":"22 4","pages":"4-14"},"PeriodicalIF":0.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Determinants of Inherited Cardiac Arrhythmias. 遗传性心律失常的遗传决定因素。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1827

Ramon Brugada

引用次数: 0

Genetic Causes of Thoracic Aortic Aneurysm: A Review. 胸主动脉瘤的遗传原因综述。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1908

Rachel E Wittenberg, Mark E Lindsay

引用次数: 0

The Red Flags Were Missing, the Indication Was Not: Genetic Testing in Heart Failure and Cardiomyopathy. 没有危险信号，但没有适应症：心衰和心肌病的基因检测。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1955

Abou Bakr Salama

引用次数: 0

Genetic and Conventional Risk Stratification Are Complementary for Primary Prevention of CAD. 遗传和常规风险分层是CAD一级预防的补充。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-15 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1851

Robert Roberts, MacKenna Roberts

{"title":"Genetic and Conventional Risk Stratification Are Complementary for Primary Prevention of CAD.","authors":"Robert Roberts, MacKenna Roberts","doi":"10.14797/mdcvj.1851","DOIUrl":"10.14797/mdcvj.1851","url":null,"abstract":"Primary prevention of coronary artery disease (CAD) needs to be initiated early in young asymptomatic individuals (20s, 30s). Current pooled cohort equation (PCE) risk stratification for CAD is based on conventional risk factors often not present until the fifth or sixth decade. Genetics accounts for 50% of risk for CAD. The number of DNA risk variants present in an individual, referred to as a polygenic risk score (PRS), can be used to risk stratify young asymptomatic individuals since the PRS is derived from DNA risk variants that are randomized at conception and can be determined at birth or anytime thereafter. The PRS does not change in one's lifetime; it has been evaluated in over 1 million individuals, and the top 20% have a threefold increased risk for CAD. The genetic risk for CAD as detected by PRS is independent of and complementary to conventional risk stratification. Genetic risk has been shown to be reduced by lowering plasma LDL-C, adopting a healthy lifestyle, and increasing physical activity. The minimal threshold required for clinical manifestations-as determined by mg per years of exposure to plasma LDL-C-is suggested to be around 5,000 mg years. This is considered the minimum clinical threshold based on a 1% incidence of myocardial infarction in the United States (US) at age 40 years and an average plasma LDL-C of 125 mg/dL, with a product of 40 × 125 resulting in 5,000 mg years. Utilizing PRS to detect candidates at increased risk for CAD while in their 30s, followed by an annual injection of a long-acting agent such as inclisiran to reduce plasma LDL-C in the range of 60 mg/dL, has the potential to delay the onset of a first myocardial infarction until age 80 years.","PeriodicalId":39207,"journal":{"name":"Methodist DeBakey cardiovascular journal","volume":"22 4","pages":"40-50"},"PeriodicalIF":0.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149009010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

David-V Procedure Combined with Zone 2 Arch Replacement for Acute Stanford Type A Dissection. David-V手术联合2区弓置换术治疗急性Stanford A型夹层。

Methodist DeBakey cardiovascular journal Pub Date : 2026-09-02 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1902

István Gecse, Maria Guadalupe Lopez Trevino, Marcell Székely, Tomasso Cambiaghi, Ziyab Sarfaraz, Yuncen Atticus He

{"title":"David-V Procedure Combined with Zone 2 Arch Replacement for Acute Stanford Type A Dissection.","authors":"István Gecse, Maria Guadalupe Lopez Trevino, Marcell Székely, Tomasso Cambiaghi, Ziyab Sarfaraz, Yuncen Atticus He","doi":"10.14797/mdcvj.1902","DOIUrl":"10.14797/mdcvj.1902","url":null,"abstract":"Valve-sparing aortic root replacement is increasingly used in selected patients with acute aortic dissection and preserved valve anatomy. We present the case of a 52-year-old man with acute Stanford type A aortic dissection extending from the aortic root to the iliac bifurcation with arch involvement; this was complicated by severe aortic insufficiency and right lower extremity malperfusion. The patient underwent emergent valve-sparing root replacement using the David technique combined with zone 2 arch reconstruction under hypothermic circulatory arrest and selective antegrade cerebral perfusion. Intraoperative echocardiography confirmed excellent valve function with trace residual regurgitation. The postoperative course was notable for transient vasoplegia and re-exploration without bleeding, followed by uneventful recovery and discharge on postoperative day 11. This case highlights the feasibility of combining valve-sparing root replacement with zone 2 arch reconstruction in the acute setting of Stanford type A dissection with malperfusion, allowing restoration of true lumen flow while preserving native valve function.","PeriodicalId":39207,"journal":{"name":"Methodist DeBakey cardiovascular journal","volume":"22 1","pages":"64-69"},"PeriodicalIF":0.0,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13544042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Circumaortic Configuration of the Left Coronary Arteries. 左冠状动脉的环主动脉结构。

Methodist DeBakey cardiovascular journal Pub Date : 2026-07-30 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1830

Damandeep Singh, Niraj Nirmal Pandey, Vineeta Ojha, Satyavir Yadav

引用次数: 0

Circumaortic Renal Vein Remodeling Following Abdominal Aortic Aneurysm Repair. 腹主动脉瘤修复后肾动脉周围静脉重构。

Methodist DeBakey cardiovascular journal Pub Date : 2026-07-30 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1857

Merlyn Varghese, Anish Tayal, Madeline Drake, Ponraj Chinnadurai, Dora Z Zatyko, Alan B Lumsden

引用次数: 0

State of the Art in Pericardial Disease: Webcast June 23 2026. 心包疾病的最新进展：2026年6月23日网络直播。

Methodist DeBakey cardiovascular journal Pub Date : 2026-07-30 eCollection Date: 2026-01-01 DOI: 10.14797/mdcvj.1907

Miguel A Quiñones, Maan Malahfji, Tom Kai Ming Wang, Sarah Kazzaz, Mohamed M H Al-Kazaz

引用次数: 0