Adult Congenital Heart Disease (ACHD)

Date: October 26, 2023

Purpose: This briefing document summarizes key themes, important ideas, and facts regarding Adult Congenital Heart Disease (ACHD) based on the provided source material.

Executive Summary

Medical and surgical advancements have led to a growing population of adults with congenital heart disease (CHD). This demographic requires specialized, multidisciplinary care due to common cardiovascular "residua" from previous interventions. The document highlights various specific CHD conditions, including Patent Foramen Ovale (PFO), Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), Patent Ductus Arteriosus (PDA), Pulmonary Stenosis (PS), Aortic Coarctation, and Tetralogy of Fallot (TOF), detailing their pathophysiology, clinical presentation, diagnostic evaluation, treatment, and post-closure follow-up. A significant theme across all conditions is the importance of specialized cardiology follow-up, careful consideration of activity restrictions, and comprehensive reproductive health counseling, especially regarding pregnancy risks and contraception. Additionally, the document addresses the unique challenges and management strategies for patients with cyanotic CHD, including Eisenmenger syndrome, emphasizing the need for highly specialized care for these complex cases.

Main Themes and Key Insights

1. Growing ACHD Population and the Need for Specialized Care: * Key Fact: "Medical and surgical advances have resulted in more adults than children with congenital heart disease (CHD) in North America." * Importance: This highlights a fundamental shift in patient demographics, necessitating a focus on adult-specific management strategies and long-term care. * Implication: The specialized nature of ACHD management underscores the "importance of periodic follow-up by a team ideally consisting of the internist and a cardiologist trained in adult CHD." * Specifics: "Specialized care is critical for patients born with complex and cyanotic congenital cardiac disease, symptomatic patients, and patients who desire pregnancy."

2. Comprehensive Patient Counseling and Holistic Care: * Reproductive Health: "Patients with CHD should be offered reproductive health counseling." This includes discussions on contraception, balancing its use against pregnancy risks, and pre-pregnancy counseling for those on anticoagulation due to associated "maternal and fetal risks." * Psychological Well-being: "Anxiety and depression are prevalent but underrecognized in patients with CHD, and screening for these mood disorders should be a routine aspect of care." This emphasizes a holistic approach to patient management beyond purely cardiac issues. * Infectious Disease Prevention: Hepatitis C screening is recommended, and Hepatitis B vaccination is advised for non-immune individuals.

3. Common Cardiovascular Residua and Long-Term Follow-up: * General Principle: "Cardiovascular residua are common in patients with previous intervention for congenital cardiac lesions." This necessitates lifelong monitoring. * Condition-Specific Examples: * ASD: Atrial fibrillation risk persists after closure, and "Rare complications after device closure include device migration, erosion into the pericardium or aorta, and sudden death." * VSD: "Residual or recurrent VSD, arrhythmias, PH, endocarditis, and valve regurgitation are recognized complications following VSD closure." * PS: "Patients with previous PS intervention (balloon or surgical) often have severe pulmonary regurgitation; thus, long-term clinical and TTE follow-up is recommended." * Aortic Coarctation: "Following coarctation repair, hypertension occurs in up to 75% of patients and should be treated." * TOF: "Severe long-standing pulmonary regurgitation causes right heart enlargement, tricuspid regurgitation, exercise limitation, and both atrial and ventricular arrhythmias and is the most common reason for reoperation after TOF repair." The incidence of sudden cardiac death after TOF repair is "approximately 2% per decade."

4. Condition-Specific Management Strategies:

* **Patent Foramen Ovale (PFO):**

    * **Diagnosis:** Typically by transesophageal echocardiography (TEE) with color flow Doppler or agitated saline injection.

    * **Treatment:** Antiplatelet therapy for embolic stroke of undetermined source. PFO closure is recommended for patients under 60 with embolic-appearing infarcts and no other stroke mechanism, offering a "3.4% at 5 years" recurrent stroke risk reduction, but with a "3.9%" periprocedural complication rate and increased atrial fibrillation risk (0.33% per year). No treatment is needed for asymptomatic, incidentally detected PFO.

    * **Associated Conditions:** Platypnea-orthodeoxia syndrome and Atrial Septal Aneurysm (ASA), which "reportedly increases the risk for stroke compared with PFO alone."

* **Atrial Septal Defect (ASD):**

    * **Types:** Ostium secundum (most common), ostium primum, sinus venosus, and coronary sinus.

    * **Clinical Features:** Suspected with unexplained right heart enlargement or atrial arrhythmias; "Atrial fibrillation is a common finding, particularly in older patients with an ASD."

    * **Diagnosis:** TTE is preferred for secundum and primum defects; TEE, CMR, or CT for sinus venosus and coronary sinus defects.

    * **Treatment:** Closure indicated for right-sided cardiac chamber enlargement and dyspnea. Percutaneous device closure for isolated ostium secundum ASDs; surgical closure for nonsecundum, large secundum, or anatomically unfavorable defects, or coexistent cardiovascular disease.

    * **Pregnancy:** "Generally well-tolerated in patients with an ASD in the absence of PH."

* **Ventricular Septal Defect (VSD):**

    * **Types:** Membranous (most common, 80%), muscular (often close spontaneously), subpulmonary, and inlet.

    * **Presentation:** Small VSDs are asymptomatic with a "loud (often palpable) holosystolic murmur"; moderate shunts can cause LV volume overload and PH. Large, unrepaired VSDs can lead to "fixed PH within several years with subsequent development of Eisenmenger syndrome."

    * **Treatment:** Closure indicated for Qp:Qs ≥ 1.5 with LV volume overload and no PH. Surgical closure is most common, but percutaneous options exist. Closure is *not* indicated for small shunts or for Eisenmenger syndrome due to risk of "clinical deterioration."

    * **Pregnancy:** "Generally well-tolerated in the absence of PH; patients with VSDs and associated fixed PH should be counseled to avoid pregnancy."

* **Patent Ductus Arteriosus (PDA):**

    * **Presentation:** Typical "continuous 'machinery' murmur." Large unrepaired PDAs can cause PH and "Eisenmenger syndrome; characteristic features... are clubbing and oxygen desaturation affecting the feet but not the hands (differential cyanosis)."

    * **Treatment:** Closure indicated for left-sided cardiac chamber enlargement if pulmonary artery systolic pressure is less than 50% systemic. Percutaneous closure is usual.

* **Pulmonary Stenosis (PS):**

    * **Associated Syndrome:** Noonan syndrome.

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