言出必行

一辈子的纽约人, Sharon Bond views walking as an enjoyable way to get from point A to point B, 她通常一次步行五英里. 这位注重健康的56岁老人还经常去健身房, 在跑步机上锻炼的线上电子游戏飞禽走兽补充了她在城市的短途旅行.

So, it caught Sharon off guard when, at the age of 47, she began to feel dizzy and short of breath. Her symptoms alarmed a trainer at the gym enough that he took her blood pressure. It was so high that he instructed her to leave and not return without a doctor’s note.

莎伦马上打电话给她的初级保健医生, 他检查的时候，她的血压还是高得离谱. 体检后, he diagnosed her with a heart murmur and prescribed blood pressure lowering medication, 建议她如果症状加重就回来.

他们所做的. 几天后午餐约会后步行回家, Sharon felt so dizzy that she had to lean against a building to steady herself.

大约两周后，莎伦心脏病发作. 进一步的医学检查显示她也有遗传形式的 肥厚性心肌病，或HCM. HCM不被认为是心脏病发作或高血压的原因. 然而, it’s not uncommon for someone with HCM to also have high blood pressure and HCM can lead to other conditions.

关于HCM要知道什么

据估计，美国每500人中就有1人患有糖尿病.S. 有HCM，但大部分患者未被诊断. 事实上, it’s considered the most common genetic disease of the heart muscle and can affect people of any age.

HCM can be the result of a genetic mutation that causes the walls of the left ventricle to thicken and stiffen. 这减少了血液进出心脏的流量.

People who have family members with HCM should have their hearts checked to see if they also have the condition.

“一旦我们发现了导致疾病的DNA变化, 我们愿意为任何感兴趣的血缘亲属做同样的检测,”医生说。. Anjali欧文斯, the medical director at the Penn Center for Inherited Cardiac Disease and an assistant professor of medicine at the Hospital of the University of Pennsylvania. 但并非所有HCM患者都有可识别的基因突变, 基因检测是识别高危患者的宝贵工具.

HCM is a thickening of the lower main pumping chamber of the heart (the left ventricle). HCM有两种类型. 和超过60%的HCM患者一样，沙伦的子宫是阻塞性的. 这种类型的HCM, the wall (septum) between the two bottom chambers of the heart becomes enlarged and limits blood flow out of the heart.

“患有阻塞性HCM, it’s really hard for the blood in the chamber to leave the heart because the thick part of the muscle is in the way,欧文斯说. 泵腔的壁也会变硬.

Thirty percent of patients have non-obstructive HCM that occurs when the thickened heart muscle doesn’t block blood flow. 心脏的主泵腔仍然变得僵硬, 是什么限制了心室可以吸入和排出的血液量.

Chest pain, shortness of breath, fatigue, fainting, and palpitations due to abnormal heart rhythms (心律失常) are the most common symptoms of HCM, but some people have no obvious symptoms. “In patients who have symptoms, we generally start with lifestyle and medication,欧文斯说. 

随着线上电子游戏飞禽走兽的推移，HCM症状可能会恶化，新的症状可能会出现. 这可能导致功能受损, 生活质量下降, 长期并发症, 更多的经济负担. 患有HCM的人经常被迫改变生活方式, 比如限制他们的活动, 来适应他们的疾病.

图片由Erin Schiffman提供

“It’s an area of active research to find out how much activity is safe and good for you,欧文斯说. “我们很少会说不要锻炼, 但是我们可以给出一些关于如何通过热身安全锻炼的建议, 让身体降温，保持水分, 什么能帮助心脏肌肉保持良好和饱满.”

患有HCM的人患其他严重疾病的风险更大，例如 心房纤颤 (AFib). AFib is a quivering or irregular heartbeat (arrhythmia) that can lead to blood clots, 中风, 心力衰竭和其他心脏相关并发症.

HCM is chronic and can progress, causing some patients to develop the clinical syndrome of 心脏衰竭. Heart failure means that the heart isn’t able to keep up with the needs of the body. HCM患病率随年龄增长而增加.

Early detection and monitoring may help reduce some of the consequences of HCM and improve outcomes. 典型的HCM诊断方法是 超声心动图 to get an idea of the thickness of the heart muscle and observe blood flow from the heart.

Current treatment guidelines recommend using medication to relieve symptoms and help with function, 但没有针对HCM的治疗方法. Beta-blockers or calcium channel blockers to relax the heart muscle offer limited and varying results and may have adverse effects. 目前还没有药物可以治疗HCM的潜在病因.

An 植入式心律转复除颤器 — a device that continuously monitors the heart and delivers a shock for dangerous heart rhythms — may also be used in HCM patients with 心律失常 to reduce their risk of sudden cardiac death. For HCM patients who continue to have quality-of-life-impairing symptoms despite medication, 考虑手术减少梗阻. 非阻塞性HCM患者则没有类似的选择. Heart transplants are considered as a last resort for those who progress to end stages of the disease.

前进的道路

在莎伦被诊断出HCM后不到一周, 阻塞非常严重，外科医生进行了鼻中隔肌切除术, 移除莎伦鼻中隔多余的肌肉. “我害怕我可能回不来了，”她说. “如果我死了，谁来照顾我的家人?”

当沙伦在手术后醒来时，已经过去了好几天. 这是手术的并发症, she had frozen shoulder syndrome and required months of physical therapy before she regained the use of her left arm. “The road to recovery was long and very painful with many sleepless nights,” Sharon said.

管理她的HCM是一个持续的过程. 莎伦有时会心悸和呼吸困难, and she has been hospitalized a few times to undergo testing to make sure that her septum has not thickened again.

渴望提高对HCM的认识, Sharon signed up on the 美国心脏协会’s volunteer page as soon as she felt able. In 2014, Sharon was named a Red Cap Ambassador for the New York Wall Street Run & “从那以后，我一直是纽约的大使.后来，她成立了自己的非营利组织， 心说基金会(链接在新窗口中打开).

Sharon对HCM患者的建议如下:

• 参加每一次医疗预约, 即使你不喜欢, 按照医生的指示用药和生活方式. “有时候我想吃蛋糕，做别人都做的事，”莎伦说. “I can do that on a Monday, but on Tuesday, I have to get back to being a survivor.”
• 和心理健康专家谈谈. 患有HCM的人可能会感到焦虑和抑郁. “我有一位心理医生，和他谈谈很有帮助，”莎伦说.
• 写下任何问题以及医生的回答. “你以后会想参考它们的，”莎伦说.
• 让你所有的医生在同一个小组. 莎伦的初级保健医生, cardiologist and psychologist communicate regularly about her condition and treatment.

而莎伦担心她的病情未来会如何发展, 欧文斯说，HCM患者有理由感到乐观. 而不是开胸手术, 例如, 许多患者可以选择使用导管进行侵入性较小的手术.

“I would be hopeful that there are new therapies that are being developed that will really change the landscape of how we treat HCM,欧文斯说. “我们可以帮助你过充实的生活.”