What is congenital heart failure?

Understanding Congenital Heart Disease vs. Congenital Heart Failure

Congenital heart failure is not a standard medical term - what is typically referred to is heart failure that develops as a consequence of congenital heart disease, which comprises structural abnormalities of the heart present at birth.

Congenital Heart Disease (CHD)

Definition and Prevalence

• Congenital heart disease (CHD) encompasses a range of structural cardiac abnormalities present before birth due to abnormal fetal cardiac development 1
• CHD is the most common group of birth defects, occurring in approximately 8 in 1,000 newborns 1
• The adult CHD (ACHD) population is growing at approximately 5% per year and likely exceeds one million people in the US 1

Common Types of Congenital Heart Defects

• Patent arterial duct (patent ductus arteriosus): Abnormal persistence of the connection between the pulmonary artery and aorta 1
• Interatrial communication (atrial septal defect): A hole or pathway between the atrial chambers 1
• Ventricular septal defect: A hole or pathway between the ventricular chambers 1, 2
• Tetralogy of Fallot: Characterized by pulmonary outflow obstruction, ventricular septal defect, aortic override, and right ventricular hypertrophy 1
• Transposition of the great arteries: The right ventricle connects to the aorta and the left ventricle connects to the pulmonary trunk 1
• Functionally univentricular heart (single ventricle defect): The ventricular mass cannot be partitioned into separate systemic and pulmonary circulations 1

Heart Failure in Congenital Heart Disease

Development of Heart Failure

• Heart failure (HF) represents the leading cause of morbidity and mortality in adult patients with congenital heart disease 3
• Almost all patients with ACHD will have sequelae of either their native CHD or its surgical repair/palliation, although these can take decades to manifest 1
• The nature of the underlying congenital heart disease affects the timing and severity of heart failure 3

Presentation in Different Age Groups

• In infants, heart failure may present with difficulty feeding (requiring >20 minutes to drink a bottle), diaphoresis, or poor weight gain 1
• In adults with CHD, heart failure can be subclinical, underscoring the need for close follow-up 3
• Adults with unrepaired congenital defects may present with asymptomatic murmurs, infective endocarditis, valve regurgitation, cyanosis, or exercise intolerance 2

Diagnostic Approach

Initial Evaluation

• Transthoracic echocardiography is the essential diagnostic test for evaluating heart failure in patients with congenital heart disease 1
• Echocardiographic findings typically fall into five major categories that determine management:
  1. Congenital heart disease with left-to-right shunt
  2. Congenital heart disease with systemic outflow obstruction
  3. Normally functioning heart with dilated chambers
  4. Pericardial effusion with tamponade
  5. Dilated, poorly functioning heart 1

Additional Testing

• Initial diagnostic testing should include serum concentrations of glucose, calcium, and hemoglobin 1
• Chest radiography helps detect pleural effusion, pneumonia, or anatomic abnormalities 1
• ECG may reveal rhythm abnormalities that can cause acute heart failure 1
• MRI and CT are increasingly used for evaluation of congenital heart disease in adults 4

Treatment Approaches

Medical Management

• Treatment differs from acquired heart failure, with limited evidence for effective drug therapies in ACHD-related heart failure 5
• In infants with acute heart failure, diuretics should be administered cautiously as an acute decrease in preload may lead to hypotension 1
• Intravenous inotropic agents used in children (dobutamine, dopamine, epinephrine, isoproterenol) are generally similar to those used in adults 1
• Newer medications such as angiotensin receptor blockers with neprilysin inhibitors or sodium-glucose co-transporter-2 inhibitors may show benefit, but data is currently lacking 3

Non-Pharmacologic Strategies

• Residual ventricular, valvular, and vascular abnormalities contribute to heart failure pathophysiology, leading to an emphasis on non-pharmacologic treatment strategies 5
• Options include catheter-based interventions, surgical correction, cardiac resynchronization therapy, mechanical circulatory support, and heart transplantation 3, 5
• Early surgical correction of significant defects is recommended to prevent complications such as pulmonary vascular disease 2

Long-Term Management

Specialized Care

• Patients with ACHD who are cared for in ACHD centers have better outcomes 1
• Regular follow-up at tertiary centers with expertise in ACHD is essential for timely management of target hemodynamic lesions 3
• Adults with congenital heart disease require periodic imaging for monitoring their condition 4

Complications and Prognosis

• Risk of developing pulmonary arterial hypertension varies by defect size - small VSDs (<1 cm) have only a 3% risk, while larger defects (>1.5 cm) carry a 50% risk 2
• Unrepaired VSDs carry a higher risk of infective endocarditis compared to surgically closed VSDs 2
• As the congenital heart disease population continues to grow and age, both outpatient and inpatient services for heart failure will continue to play a major role in their care 3