Shovlin C L, Awan I, Cahilog Z, Abdulla F N, Guttmacher A E
NHLI Cardiovascular Sciences, Imperial College London, UK; HHTIC London, Respiratory Medicine, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK.
NHLI Cardiovascular Sciences, Imperial College London, UK; Imperial College School of Medicine, London, UK.
Int J Cardiol. 2016 Jul 15;215:179-85. doi: 10.1016/j.ijcard.2016.04.006. Epub 2016 Apr 7.
Cardiac phenotypes should be pronounced in hereditary hemorrhagic telangiectasia (HHT) due to frequent systemic arteriovenous malformations (AVMs), iron deficiency anemia, hypoxemia, hyperdynamic circulations, venous thromboemboli, and paradoxical emboli through pulmonary AVMs.
METHODS/RESULTS: In an international survey, 1025 respondents (median age 55years) met HHT diagnostic criteria: 942 (91.9%) reported nosebleeds, 452 (44.1%) at least daily. AVMs were commonly reported in pulmonary (544, 53%), hepatic (194, 18.9%) and/or cerebral (92, 9.0%) circulations. 770/1025 (75%) had used iron tablets, 256 (25.0%) intravenous iron, and 374 (36.5%) received blood transfusions. Arrhythmias were reported by 113/1025 (11%, including 44 (4.3%) with atrial fibrillation), angina by 36 (3.5%), and cardiac failure by 26 (2.5%). In multivariate logistic regression, these phenotypes were associated with hepatic AVMs/pulmonary hypertension (relatively interchangeable variables), blood transfusions, and intravenous iron. Cardiac insufficiency/failure often provokes intensive anemia treatments, but associations with arrhythmias, particularly with a greater transfusion burden, were less easy to explain. Myocardial infarction (23/1025; 2.2%), and abnormal coronary angiogram (≤31/76, ≤54%) rates appeared low. Provocative preliminary data were obtained including HHT-affected respondents' parents and grandparents in whom HHT could be confidently assigned, or excluded based on autosomal dominant inheritance patterns: in crude and survival analyses, myocardial infarctions were reported less frequently for individuals with HHT, particularly for males (p=0.001).
Arrhythmias are the most common cardiac phenotype in HHT, and likely to be aggravated by iron deficiency anemia, its treatments, and/or high output states due to AVMs. Myocardial infarction rates may be reduced in this apparently high risk population.
由于遗传性出血性毛细血管扩张症（HHT）常伴有全身性动静脉畸形（AVM）、缺铁性贫血、低氧血症、高动力循环、静脉血栓栓塞以及通过肺动静脉畸形导致的反常栓塞，心脏表型应较为明显。
方法/结果：在一项国际调查中，1025名受访者（中位年龄55岁）符合HHT诊断标准：942人（91.9%）报告有鼻出血，其中452人（44.1%）至少每天发生一次。常见的动静脉畸形部位包括肺循环（544例，53%）、肝循环（194例，18.9%）和/或脑循环（92例，9.0%）。770/1025（75%）曾服用铁剂，256人（25.0%）接受过静脉补铁，374人（36.5%）接受过输血。113/1025（11%）报告有心律失常（包括44例（4.3%）房颤），36人（3.5%）报告有胸痛，26人（2.5%）报告有心力衰竭。在多因素逻辑回归分析中，这些表型与肝动静脉畸形/肺动脉高压（相对可互换的变量）、输血和静脉补铁有关。心脏功能不全/心力衰竭常促使强化贫血治疗，但与心律失常的关联，尤其是输血负担较重时的关联，较难解释。心肌梗死发生率（23/1025；2.2%）和冠状动脉造影异常率（≤31/76，≤54%）似乎较低。获得了一些有启发性的初步数据，包括受HHT影响的受访者的父母和祖父母，根据常染色体显性遗传模式可明确诊断或排除HHT：在粗略分析和生存分析中，HHT患者发生心肌梗死的频率较低，尤其是男性（p=0.001）。
心律失常是HHT最常见的心脏表型，可能因缺铁性贫血、其治疗方法和/或动静脉畸形导致的高输出状态而加重。在这个明显的高风险人群中，心肌梗死发生率可能降低。
