Congenital heart disease (CHD) is a field of cardiology where perhaps the most dramatic evolution has occurred over the last 40 to 50 years. The stunning development of antenatal diagnostics, interventional catheterization, cardiothoracic surgery, echocardiography, and pre- and postoperative intensive care as well as important pharmacological advances have improved prognosis during childhood. While there are several reports of an increased birth prevalence, from about 1% to 2% of all live births, this increase is probably secondary to increased diagnosis of mild cases. Today, 97% of children born with congenital heart disease will survive until adulthood, and 70% of those alive at 18 years will live to become 70 years of age.¹ Thus, there are many more adults living with CHD than there are children with CHD. In broad terms, 60% of CHD is mild, eg, atrial septal defect, ventricular septal defect, pulmonary stenosis; 30% moderate, eg, coarctation of the aorta, tetralogy of Fallot, aortic stenosis, Ebstein anomaly; and 10% are complex cases, eg, single ventricle, pulmonary atresia, transposition of the great arteries. Although survival of mild and moderate CHD has also increased, the increasing number of patients surviving with complex CHD represents a significant challenge to adult cardiology. An increased lifespan also means a higher risk of acquired cardiovascular disease, and adults with congenital heart disease (ACHD) often present challenging conditions for their cardiologists but also for nephrologists, hepatologists, and neurologists (Table).

Table. Challenges in ACHD

ACHD indicates adults with congenital heart disease; CHD, congenital heart disease; and HF, heart failure.

Fifty years ago, many children born with complex CHD could only, at best, be palliated for the first year(s) of life if at all. In the 1970s and 1980s, several surgical innovative procedures were introduced including Fontan surgery, creating a sustainable single-ventricle circulation, and the atrial redirection described by Senning and Mustard, followed by the Jatene or arterial-switch operation for transposition of the great arteries.² For children born with perhaps the most severe CHD, hypoplastic left heart syndrome, with Norwood surgery most such children could be offered a long-standing palliation, and the early Norwood hypoplastic left heart syndrome cases are today in their 30s. Many of these procedures were made possible through improved diagnostic procedures including echocardiography by the introduction of interventional catheterizations such as the Rashkind septostomy and by the ability to pharmacologically keep the ductus arteriosus open for prolonged periods of time.

For more common and less complex conditions, eg, ventricular septal defect, coarctation of the aorta, or atrial septal defect, new techniques, including interventional catheterizations, have meant lower risk, shorter hospital stay, fewer postoperative sequala, and less risk of reinterventions. The introduction of the Ross procedure, moving the patients’ pulmonary valve to the aortic position and inserting a homograft in the pulmonary artery, to treat congenital aortic stenosis made long-term survival for this condition not only possible but probable. From the 1980s and till today, the chance of survival to adulthood has increased from 50% to 85% for the most complex CHD, from 70% to 92% for less complex CHD, and from 95% to 99% for the least complex CHD.¹

The need for reintervention is almost nonexistent for mild cases successfully treated in childhood, eg, atrial septal defect, ventricular septal defect, but is increasing with age for many other conditions such as tetralogy of Fallot, transposition of the great arteries, and any condition where an artificial valve or conduit has been implanted. Patients with CHD show more pronounced risk factors such as physical inactivity, type 2 diabetes, and hypertension, and have a higher risk and earlier onset of acquired cardiovascular disease, ie, stroke, coronary artery disease, and arrythmias.³ Acquired cardiovascular disease comes on top of the preexisting condition, which may increase the total risk; >50% of ACHD patients have at least 1 episode of atrial fibrillation, heart failure, stroke, diabetes, or myocardial infarction at age 70 years. The increased risk is prominent for complex CHD but is also significant for mild conditions such as atrial septal defect or ventricular septal defect.

The evidence base for medical treatment of arrythmias, heart failure, or hypertension in CHD is mostly by inference. The use of anticoagulation is empiric in CHD, usually well-tolerated, but conventional risk assessment tools, ie, CHA₂DS₂-VASc score, may not be directly translatable.

There is a modest but significantly higher risk of cancer in CHD in comparison with controls, most notable in patients with complex CHD.⁴ This risk is more pronounced in more recent cohorts and is observed already in children. This risk may be related to exposure to radiation, but other factors such as neonatal stress of surgery or removing or damaging the thymus may play a role.

Endocarditis remains a significant risk for patients with CHD with a cumulative lifetime risk of 8.5%, roughly 12 times that of controls.

Children and young adults but also adults with CHD report a similar health-related quality of life as same-age controls but with a modestly higher degree of bodily pain and a somewhat higher level of anxiety.⁵

Physical activity in general is promoted in CHD, but many patients with CHD have a low level of physical activity, modest sarcopenia, and lower muscular strength. All patients with CHD can be encouraged to train, including patients with very complex CHD. Although an earlier cognitive decline in elderly ACHD has been reported, associated with multiple perioperative cerebral traumata, neonatal cyanosis, or lifelong chronic inflammation, this information is still too premature to merit anything but continued observation.

CHD represents a wide spectrum of heart disease from very mild, “cured,” to very severe conditions. Today, survival until 18 years of age is 97%, and from 18 to 70 years, it is 70%.

Increased longevity leads to increased prevalence of ACHD and an increasing number of elderly with CHD. More patients with complex CHD provide a challenge to adult cardiology.

ACHD is characterized by a relatively high burden of acquired cardiovascular disease as well as a significant risk of endocarditis and a small increase in the risk of cancer. This will affect adult cardiology as well as increase the demand on and for highly specialized referral centers.

None.

Disclosures None.

The American Heart Association celebrates its 100th anniversary in 2024. This article is part of a series across the entire AHA Journal portfolio written by international thought leaders on the past, present, and future of cardiovascular and cerebrovascular research and care. To explore the full Centennial Collection, visit https://www.ahajournals.org/centennial

The opinions expressed in this article are not necessarily those of the editors or of the American Heart Association.

For Sources of Funding and Disclosures, see page 1399.

Circulation is available at www.ahajournals.org/journal/circ

先天性心脏病 (CHD) 是心脏病学的一个领域，在过去的 40 到 50 年里，它可能发生了最戏剧性的演变。产前诊断、介入导管插入术、心胸外科、超声心动图、术前和术后重症监护的惊人发展以及重要的药理学进展改善了儿童期的预后。虽然有几份报告称出生率有所增加，占所有活产婴儿的比例从 1% 增至 2%，但这种增加可能是由于轻症病例诊断增加所致。如今，97% 的出生时患有先天性心脏病的儿童能够存活到成年，18 岁时存活的儿童中 70% 能够活到 70 岁。¹因此，患有 CHD 的成年人比患有 CHD 的儿童多得多。广义而言，60%的冠心病是轻度的，如房间隔缺损、室间隔缺损、肺动脉瓣狭窄； 30%中度，如主动脉缩窄、法洛四联症、主动脉瓣狭窄、Ebstein异常； 10%为复杂病例，如单心室、肺动脉闭锁、大动脉转位等。尽管轻度和中度 CHD 的生存率也有所增加，但复杂 CHD 患者生存数量的增加对成人心脏病学构成了重大挑战。寿命的延长也意味着患获得性心血管疾病的风险更高，患有先天性心脏病 (ACHD) 的成年人常常给心脏病专家、肾病专家、肝病专家和神经科医生带来挑战（表）。

桌子。 ACHD 面临的挑战

ACHD 表示患有先天性心脏病的成年人； CHD，先天性心脏病；和心力衰竭（HF）、心力衰竭。

五十年前，许多患有复杂先心病的儿童最多只能在生命的第一年得到缓解（如果有的话）。在 20 世纪 70 年代和 80 年代，引入了多种外科创新手术，包括创建可持续单心室循环的 Fontan 手术，以及 Senning 和 Mustard 描述的心房改向术，以及用于大动脉转位的 Jatene 或动脉转位手术。²对于出生时可能患有最严重的先心病（左心发育不全综合征）的儿童，通过诺伍德手术，大多数此类儿童都可以得到长期的姑息治疗，早期诺伍德左心发育不全综合征的病例如今已是 30 多岁。其中许多手术是通过改进诊断程序而得以实现的，包括超声心动图、引入介入导管插入术（如拉什金德隔膜造口术）以及通过药物使动脉导管长时间保持开放的能力。

对于更常见和不太复杂的情况，例如室间隔缺损、主动脉缩窄或房间隔缺损，包括介入导管插入术在内的新技术意味着风险更低、住院时间更短、术后后遗症更少以及再次干预的风险更低。罗斯手术的引入，将患者的肺动脉瓣移至主动脉位置，并在肺动脉中插入同种移植物，以治疗先天性主动脉瓣狭窄，使这种疾病的长期生存不仅成为可能，而且是可能的。从 20 世纪 80 年代至今，最复杂的 CHD 的成年生存机会从 50% 增加到 85%，不太复杂的 CHD 从 70% 增加到 92%，最不复杂的 CHD 从 95% 增加到 99% 。¹

对于在儿童时期成功治疗的轻度病例，例如房间隔缺损、室间隔缺损，几乎不存在重新干预的需要，但对于许多其他病症，例如法洛四联症、大动脉转位以及任何需要再干预的病症，随着年龄的增长而增加。已植入人工瓣膜或导管。患有先天性心脏病的患者表现出更明显的危险因素，例如缺乏身体活动、2型糖尿病和高血压，并且患后天性心血管疾病（即中风、冠状动脉疾病和心律失常）的风险更高且发病更早。³获得性心血管疾病是在原有疾病基础上出现的，这可能会增加总风险； >50% 的 ACHD 患者在 70 岁时至少有 1 次房颤、心力衰竭、中风、糖尿病或心肌梗塞发作。对于复杂的冠心病，风险增加很明显，但对于房间隔缺损或室间隔缺损等轻度疾病也很重要。

治疗先心病心律失常、心力衰竭或高血压的证据基础主要是通过推理。 CHD 中抗凝治疗的使用是经验性的，通常耐受性良好，但传统的风险评估工具，即 CHA ₂ DS ₂ -VASc 评分，可能无法直接转化。

与对照组相比，先心病患者患癌症的风险虽不大，但明显较高，尤其是复杂先心病患者。⁴这种风险在最近的队列中更为明显，并且已经在儿童中观察到。这种风险可能与暴露于辐射有关，但其他因素，如新生儿手术压力或胸腺切除或损伤也可能发挥作用。

心内膜炎仍然是 CHD 患者的一个重大风险，其终生累积风险为 8.5%，大约是对照组的 12 倍。

患有先天性心脏病的儿童和年轻人以及成年人的健康相关生活质量与同龄对照组相似，但身体疼痛程度稍高，焦虑程度也稍高。⁵

一般而言，冠心病患者需要加强体力活动，但许多冠心病患者的体力活动水平较低，肌肉减少症程度较低，肌肉力量较低。可以鼓励所有患有先心病的患者进行训练，包括患有非常复杂的先心病的患者。尽管据报道，老年 ACHD 的早期认知能力下降与多次围手术期脑外伤、新生儿紫绀或终生慢性炎症有关，但这一信息仍然为时过早，不值得继续观察。

冠心病代表了多种心脏病，从非常轻微、“治愈”到非常严重的病症。如今，18 岁之前的存活率为 97%，18 岁至 70 岁的存活率为 70%。

寿命的延长导致 ACHD 患病率增加以及患有 CHD 的老年人数量增加。更多患有复杂冠心病的患者给成人心脏病学带来了挑战。

ACHD 的特点是获得性心血管疾病负担相对较高，心内膜炎风险显着，癌症风险略有增加。这将影响成人心脏病学，并增加对高度专业化转诊中心的需求。

没有任何。

披露无。

美国心脏协会将于 2024 年庆祝成立 100 周年。本文是国际思想领袖撰写的整个 AHA 期刊系列文章的一部分，内容涉及心脑血管研究和护理的过去、现在和未来。要探索完整的百年纪念收藏，请访问 https://www.ahajournals.org/centennial

本文表达的观点不一定代表编辑或美国心脏协会的观点。

有关资金来源和披露信息，请参阅第 1399 页。

流通量可在 www.ahajournals.org/journal/circ 上获取