Congenital Heart Defects

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CONGENITAL HEART DISEASE

Congenital heart defects are the most common type of birth defect. Defects that involve the wall or vessels of the heart include atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA). In certain situations, guidelines recommend surgery or transcatheter device closure to repair the defect and prevent complications.1

Burden of Disease2


*Based on a total of 784 cases reported in 4 states (NSW, Vic, WA, and SA), noting 2 combined years of reporting for Victoria.2

References

1. Stout KK, et al. 2018 AHA/ACC Guideline for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2018;000:e000-e000.

2. Australian Institute of Health and Welfare 2019. Congenital heart disease in Australia. Cat. no. CDK 14. Canberra: AIHW.

 

Introduction to Atrial Septal Defect (ASD)1,2


 

Congenital heart defects that involve the wall or vessels of the heart include ASD, ventricular septal defect (VSD), and patent ductus arteriosus (PDA).

 

Patients diagnosed with ASD present with a defect (hole) in the muscle wall between the right and left atria of the heart. The consequence of a left-to-right shunt across an ASD is right ventricular volume overload and pulmonary over-circulation.


 

These defects can occur in a number of different sites:3

Causes of ASD4

Such defects have no identifiable cause, but certain genetic abnormalities have been linked to ASDs. The risk of a secundum defect in particular is increased in families with a history of congenital heart disease—particularly when ASD has also been diagnosed in a sibling.

 

ASDs have been associated with maternal characteristics and behaviours such as:

 

  • Foetal alcohol syndrome
  • Cigarette smoking, particularly in the first trimester
  • Advanced maternal age (≥ 35)
  • Certain antidepressant use
  • Diabetes


 

Symptoms of ASD

Patients who have large atrial shunts can experience symptoms related to excess pulmonary blood flow and right-sided heart failure.


 


 

Symptoms in Infants to Young Adults (~20 Years of Age)

 

Most children with isolated ASDs are asymptomatic. However, if patients are left untreated, symptoms can occur during adulthood.4


 


 

Symptoms in Older Adults


 

Symptoms in Patients with Small ASD

Patients who have small defects (< 10 mm) have minimal to no enlargement of the right heart structures,4 and these patients can remain asymptomatic into their 40s or 50s. However, even these patients may develop symptoms with increasing age.


 

The Problem with Late Diagnosis

Because many ASD patients experience a gradual onset of symptoms—and may exhibit only subtle physical findings—late diagnosis can occur, putting them at a higher risk for arrhythmias, pulmonary arterial hypertension, left ventricular systolic dysfunction, and paradoxical embolism.


 

The Burden of ASD1,5


 

References

1. Australian Institute of Health and Welfare 2019. Congenital heart disease in Australia. Cat. no. CDK 14. Canberra: AIHW.

2. Le Gloan L, et al. Pathophysiology and natural history of atrial septal defect. J Thorac Dis. 2018;10(Suppl 24):S2854-S2863.

3. Warnes CA, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease. J Am Coll Cardiol. 2008;52:e143–e263.

4. Geva T, et al. Atrial septal defects. Lancet. 2014;383:1921-1932.

5. Nyboe C, et al. Long-term mortality in patients with atrial septal defect: a nationwide cohort-study. Eur Heart J. 2018;39:993-998.

Treatment Options for Atrial Septal Defects (ASD)


 

Treatment Options

There are several treatment options for patients with ASD:


 

Medical Therapy

 

Medical therapy may be considered as an option for symptom management. However, this option does not address the underlying pathology.

Surgical Closure

 

Surgical closure is an option for patients with haemodynamic or clinical consequences of the defect. However, severe pulmonary arterial hypertension (PAH) is a contraindication to surgical closure.1

Percutaneous Transcatheter Closure

The primary treatment option for ASD is percutaneous, transcatheter closure, and Abbott’s Amplatzer™ Septal Occluder is the proven standard of care2,3—with more than 20 years of global clinical experience in ASD closure.4

Abbott offers two devices for ASD closure: the Amplatzer Septal Occluder, intended for patients with an ASD in the secundum position or patients who have undergone a fenestrated Fontan procedure and require closure of the fenestration;5 and the Amplatzer Cribriform Occluder, intended for the closure of multifenestrated (cribriform) ASDs.Follow the link below to learn more about the different options available. 

References

1. Stout KK, et al. 2018 AHA/ACC Guideline for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2018;000:e000-e000.

2. Kashour TS, et al. Successful percutaneous closure of a secundum atrial septal defect through femoral approach in a patient with interrupted inferior vena cava. Congenit Heart Dis. 2010;5:620–623.

3. Tadros VX, Asgar AW. Transcatheter closure of atrial septal defects: an update on ASD occlusion devices. Card Interv Today. 2016; March-April.

4. Data on file at Abbott.

5. AmplatzerTM Septal Occluder Instructions for Use.

6. AmplatzerTM Multi-Fenestrated Septal Occluder - Cribriform Instructions for Use.

Atrial Septal Defects (ASD) Guidelines1


 

There are a number of treatment options available for ASD, and there is no single option that is suitable for every patient. Treatments for ASD include medical therapy, surgery, and percutaneous transcatheter closure. See the link below to access guidelines for the management of ASD.


 


 

References

1. Baumgartner H, et al. ESC Scientific Document Group, 2020 ESC Guidelines for the management of adult congenital heart disease: The Task Force for the management of adult congenital heart disease of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Adult Congenital Heart Disease (ISACHD). European Heart Journal. 2021;42(6):563–645.

Introduction to Ventricular Septal Defects (VSD)1,2

Congenital heart defects that involve the wall or vessels of the heart include atrial septal defect (ASD), VSD, and patent ductus arteriosus (PDA).

 

Patients diagnosed with VSD present with a defect (hole) in the muscle wall between the right and left ventricles.  A left-to-right shunt from the VSD can result in an increased volume load in the left ventricle (LV), excessive pulmonary blood flow, elevated pressure in the pulmonary artery, and a reduction in cardiac output.

 

Types of ventricular septal defects

There are 4 types of VSD:2

 

  1. Perimembranous VSDs—the most common, composing 80% of VSDs—are located in the membranous septum, adjacent to the septal leaflet of the tricuspid valve. On the left ventricular (LV) side, the defect is adjacent to the aortic valve.
  2. Muscular VSDs can be located centrally, at the apex, or at the margin of the septum and right ventricular free wall. Although muscular VSDs account for up to 20% of VSDs in infants, spontaneous closure reduces their incidence in adults.
  3. Conal or subpulmonary VSDs, found just beneath the pulmonary and aortic valves, occur in about 6% of defects in non-Asian populations and up to 33% in Asian populations. Spontaneous closure is uncommon.
  4. Inlet VSDs, which occur in the lower right ventricle and adjacent to the tricuspid valve, typically occur in patients with Down syndrome.

Contributing Factors to VSD

Among the contributing factors are:

 

  • A congenital cardiovascular defect in a parent or sibling
  • Maternal diabetes
  • Maternal alcohol consumption (for muscular VSD)

 

VSDs are the most common lesion in many chromosomal syndromes, including trisomy 13, trisomy 18, trisomy 21, and other more rare syndromes. However, for more than 95% of patients with VSDs, there is no association with a chromosomal abnormality.2

Symptoms of VSD

Symptoms Correspond to VSD Size

Defect size as noted below is presented as a percentage of the aortic annulus diameter.

A small VSD of ≤ 25% has small left-to-right shunts and no LV volume overload. These VSDs can lead to:

A moderate VSD of > 25% but < 75% has moderate LV volume overload, and mild or no PAH. Patients may present with:

large VSD of ≥ 75% has a moderate to large shunt, LV volume overload, and PAH. Infants with a large VSD have symptoms including:

Other Symptoms in Adults

The Burden of VSD1-3

*Based on a total of 784 cases reported in 4 states (NSW, Vic, WA, and SA), noting 2 combined years of reporting for Victoria.1

References

1. Australian Institute of Health and Welfare 2019. Congenital heart disease in Australia. Cat. no. CDK 14. Canberra: AIHW.

2. Ramaswamy P. Ventricular septal defects. Medscape. https://emedicine.medscape.com/article/892980-overview. Accessed September 2022.

3. Xu Y, et al. Factors influencing the spontaneous closure of ventricular septal defect in infants. Int J Clin Exp Pathol. 2015;8(5):5614-5623.

Treatment Options for Ventricular Septal Defects (VSD)

Medical Therapy

Medical therapy may be considered as an option for symptom management. However, this option does not address the underlying pathology.

Surgical Closure

Standard transatrial or transarterial surgical closure is an option for VSD patients with moderate to large VSDs.1 However, it is not an option for those who are considered to be at high-risk based on their anatomical condition and/or overall medical condition.

 

 

Percutaneous Transcatheter Closure

Abbott’s Amplatzer™ VSD portfolio includes occluders specifically designed to close complex VSDs in patients that are considered to be high-risk for standard surgical repair.2,3



 

Abbott offers two devices for transcatheter VSD closure: the Amplatzer™ Muscular VSD Occluder and the Amplatzer™ P.I. Muscular VSD Occluder that is designed for the damaged muscular tissue in the septal wall of patients who have had a MI.2,3 Follow the link below to learn more about the different options available. 

Abbreviations: MI: myocardial infarction. P.I.: post myocardial infarction. 


 

References

1. Stout KK, et al. 2018 AHA/ACC Guideline for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;73(12):e81-e192.

2. Amplatzer™ Muscular VSD Occluder Instructions for Use.

3. Amplatzer™ Post-infarct Muscular VSD Occluder Instructions for Use.

Ventricular Septal Defects (VSD) Guidelines1

There are a number of treatment options available for VSD, and there is no single option that is suitable for every patient. Treatments for VSD include medical therapy, surgery, and percutaneous transcatheter closure. See the link below to access guidelines for the management of VSD.


 

References

1. Baumgartner H, et al. ESC Scientific Document Group, 2020 ESC Guidelines for the management of adult congenital heart disease: The Task Force for the management of adult congenital heart disease of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Adult Congenital Heart Disease (ISACHD). European Heart Journal. 2021;42(6):563–645.

 


 

Introduction to Patent Ductus Arterious (PDA)1,2

Congenital heart defects that involve the wall or vessels of the heart include atrial septal defect (ASD), ventricular septal defect (VSD), and PDA.

 

The ductus arteriosus is responsible for most of the right ventricular outflow from week 6 of gestation until birth. In healthy full-term infants, the functional closure of the ductus arteriosus occurs within 15 hours of life. In infants with PDA, the ductus arteriosus fails to close after birth.

 

PDA CLASSIFICATION

The Krichenko classification of PDA, based on angiography, includes 6 types:2

Patent Ductus Arteriosus
Type A: Conical
Type B: Window
Type C: Tubular
Type D: Complex
Type E: Elongated
Type F: Foetal

Possible Causes of PDA2

  • Familial cases of PDA have been documented. However, a genetic cause has not been determined.
  • Chromosomal abnormalities that may be the result of a congenital rubella infection in the first trimester of pregnancy, foetal alcohol syndrome, maternal amphetamine use, and maternal phenytoin use.
  • Prematurity
  • Other causes include low birth weight, prostaglandins, high altitude, low atmospheric oxygen tension, and hypoxia.

The PDA can range from a small haemodynamically insignificant lesion that is not heard on auscultation to one that without intervention is large enough to cause congestive heart failure and pulmonary hypertension.2,3

Symptoms of PDA

NEONATAL PRESENTATION

Assessment can reveal:
  • Wide pulse pressure
  • Bounding peripheral pulses
  • Apnoea (in neonates)
  • Unexplained metabolic acidosis
  • Hypotension
  • Systemic hypoperfusion

 

 

Depending on the system affected by hypoperfusion, patients can also present with:
  • Respiratory failure
  • Cardiac hypertrophy
  • Renal dysfunction
  • Inability to tolerate feeding
  • Necrotising enterocolitis

ADULT PRESENTATION

Among adults, closure is indicated for patients with:
  • Left atrial and/or left ventricle enlargement
  • Pulmonary arterial hypertension  
  • Left-to-right shunt
  • Prior endarteritis

PDA LEFT UNTREATED

 

Complications from an untreated PDA may include:

  • Heart failure
  • Renal dysfunction
  • Necrotising enterocolitis
  • Intraventricular haemorrhage
  • Diminished nutrition and growth
  • Potentially chronic lung disease

 

Patients with a large PDA, when untreated, are at risk of developing Eisenmenger Syndrome, in which the usual left-to-right shunting reverses to a right-to-left shunt.2

 

At this point the PDA is irreversible, PDA closure is contraindicated, and lung transplantation may be the only option for long-term survival.2

The Burden of PDA1,2,4


*Based on a total of 784 cases reported in 4 states (NSW, Vic, WA, and SA), noting 2 combined years of reporting for Victoria.1

References

1. Australian Institute of Health and Welfare 2019. Congenital heart disease in Australia. Cat. no. CDK 14. Canberra: AIHW.

2. Kim LK. Patent ductus arteriosus. Medscape. emedicine.medscape.com/article/891096-overview. Accessed September 2022.

3. Philip RB, et al. Morphologic characterization of the patent ductus arteriosus in the premature infant and the choice of transcatheter occlusion device. Catheterization and Cardiovascular Interventions. 2016;87(2):310-317.

4. Dice JE, et al. Patent ductus arteriosus: an overview. Pediatr Pharmacol Ther. 2007;12:138-146.

Treatment Options for Patient Ductus Arteriosus (PDA)

Medical Therapy

Medical therapy may be considered as an option for symptom management. However, this option does not address the underlying pathology.

Surgical Closure

PDAs can be closed using a surgical approach in infancy or childhood. For those whose ductus remains patent in adulthood, consideration of catheter-based or surgical intervention depends on the symptoms and physiological expression of the lesion.1 For small and haemodynamically insignificant PDAs, some clinicians support closure to eliminate the lifelong risk of infective endarteritis, while others may consider it unnecessary.2

Transcatheter closure  

When an infant is asymptomatic or well-controlled on medical therapy, closure treatment may be delayed until transcatheter therapy can be offered. Adults with PDA are better suited for percutaneous closure due to high rates of success and low rates of complications. Even when patients present with a small asymptomatic PDA, transcatheter device closure is a reasonable therapeutic approach.3

Abbott offers several percutaneous transcatheter occlusion devices intended for the non-surgical closure of PDA.4-6 Follow the link below to learn more about the different options available. 


 

References

1. Stout KK, et al. 2018 AHA/ACC Guideline for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2018;000:e000-e000.

2. Baruteau AE, et al. Transcatheter closure of patent ductus arteriosus: past, present and future. Arch Cardiovasc Dis. 2014;107:122-132.

3. Warnes CA, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease. J Am Coll Cardiol. 2008;52:e143–e263.

4. Abbott AmplatzerTM Duct Occluder Instructions for Use.

5. Abbott AmplatzerTM Duct Occluder II Instructions for Use.

6. AmplatzerTM Piccolo Occluder Instructions for Use.

PATENT DUCTUS ARTERIOSUS (PDA) GUIDELINES1

There are a number of treatment options available for PDA, and there is no single option that is suitable for every patient. Treatments for PDA include medical therapy, surgery, and percutaneous transcatheter closure. See the link below to access guidelines for the management of PDA.


 

References

1. Baumgartner H, et al. ESC Scientific Document Group, 2020 ESC Guidelines for the management of adult congenital heart disease: The Task Force for the management of adult congenital heart disease of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Adult Congenital Heart Disease (ISACHD). European Heart Journal. 2021;42(6):563–645.

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