Approach

Initially, the diagnosis of a ventricular septal defect (VSD) should be confirmed by echocardiography and an assessment made of the degree of shunting and the presence and degree of any associated pulmonary hypertension. The magnitude of the shunt produced by a VSD is described by the pulmonary-systemic blood flow ratio (Qp:Qs).

In patients with small defects, observation is all that is required. In patients with significant shunts with Qp:Qs ≥1.5:1 (moderate and large defects), surgical closure of the VSD is generally recommended. If the patient presents with symptoms of heart failure, the heart failure must be treated prior to surgical closure. In cases of severe pulmonary hypertension and Eisenmenger's syndrome, closure of the VSD is contraindicated. Pulmonary vasodilators may be used to provide supportive treatment.[5] For advanced disease with Eisenmenger's syndrome, heart-lung transplantation could be considered.[2][5][24]​​

Children with congenital heart defects such as VSD should ideally begin transitioning to adult cardiology during early adolescence. It may be appropriate for the transition to continue into emerging adulthood (aged 18 to 25 years) for some patients. The American Heart Association guidelines recommend designing a transition program that is sympathetic to neurocognitive diversity and that emphasises patient self-management.[26][27]​​

Patients with small congenital defects

Patients with small defects (Qp:Qs <1.5:1) can be managed with observation. In infants, most small defects close spontaneously, and most of those that persist are of no haemodynamic importance.[2]

Asymptomatic patients with moderate or large congenital defects

Medium or large VSDs should be closed to prevent progression to severe pulmonary hypertension, heart failure, and Eisenmenger's syndrome.[2] Surgical closure is recommended in adults with evidence of left ventricular volume overload and haemodynamically significant shunts (Qp:Qs ≥1.5:1) if: pulmonary artery (PA) systolic pressure is <50% systemic and pulmonary vascular resistance is less than one third systemic. Surgical closure may be considered: when a peri-membranous or supracristal VSD causes worsening aortic regurgitation; with a history of infective endocarditis; or when PA systolic pressure is ≥50% systemic and/or pulmonary vascular resistance is greater than one third systemic with a left-to-right shunt (Qp:Qs ≥1.5:1).[2][11] The usual procedure is open surgery in which a patch (bovine pericardium or synthetic material) is used to close the VSD.[2] One study found that surgical repair and transcatheter device closure of perimembranous VSDs in children were equally effective, with transcatheter closure being associated with shorter hospital stay, less blood transfused, and lower cost.[28] Percutaneous device closure of a VSD is an alternative option, in which an occluder device is placed through percutaneous access to close the VSD. The percutaneous approach may be used in patients who have type 2 or type 4 defects that are not in close proximity to the valves. It has also been utilised in cases with too high a risk for surgical closure due to serious comorbidities.[29][30][31][32]

Symptomatic patients with moderate or large congenital defects

Patients who present with symptoms of congestive heart failure may be treated medically prior to surgical correction. Although small defects often close spontaneously in children, children with large defects may present with faltering growth and require surgical closure. Preoperative medical therapy may be used in infants to delay closure until the infant has grown enough and surgery can be performed; these medical therapies are almost never required in adults. Furosemide is the first-line treatment. ACE inhibitors and digoxin can be added depending on the clinical response.[2][33]​ Once the heart failure is adequately treated, open surgery or percutaneous device closure can be used to close the VSD.[2] Surgical closure is recommended in adults with evidence of left ventricular volume overload and haemodynamically significant shunts (Qp:Qs ≥1.5:1) if: PA systolic pressure is <50% systemic and pulmonary vascular resistance is less than one third systemic. Surgical closure may be considered: when a peri-membranous or supracristal VSD causes worsening aortic regurgitation; with a history of infective endocarditis; or when PA systolic pressure is ≥50% systemic and/or pulmonary vascular resistance is greater than one third systemic with a left-to-right shunt (Qp:Qs ≥1.5:1).[2][11]​ Anaemia, if present, should be corrected by red blood cell transfusion, or by iron therapy in case of iron-deficiency anaemia.

If patients progress to shunt reversal with Eisenmenger's syndrome, the VSD is inoperable and treatment is supportive with pharmacotherapy.[5]​ Drugs used to treat pulmonary hypertension include phosphodiesterase-5 (PDE-5) inhibitors (e.g., sildenafil, tadalafil), endothelin receptor antagonists (e.g., bosentan, ambrisentan), and prostacyclins (e.g., epoprostenol).[24] Sildenafil and tadalafil have been shown to improve exercise capacity and haemodynamics in patients with Eisenmenger's syndrome.​[24][34]​​ However, the US Food and Drug Administration (FDA) does not recommend the use of these agents for this indication in paediatric patients due to an increased risk of mortality with higher doses in one trial, unless the medical team consider that the benefits of treatment with the drug are likely to outweigh its potential risks.[35] Revatio (sildenafil): drug safety communication - FDA clarifies warning about pediatric use for pulmonary arterial hypertension Opens in new window​​ Bosentan and ambrisentan have also been shown to improve haemodynamics in Eisenmenger's syndrome, but larger studies are needed.[24][36]​​ Epoprostenol may be an alternative option to these agents.[37]​​​​[38][39]​ Monotherapy or combination therapy with these agents may be recommended, and the choice of regimen should be decided in consultation with a consultant.​​

In very severe cases, heart-lung transplantation can be considered.[5][24]​​

Patients with Eisenmenger's syndrome frequently develop erythrocytosis to compensate for the hypoxaemia, and some of them develop hyperviscosity.[5] Hyperviscosity manifests with headache, fatigue, dyspnoea and dizziness.[5] Phlebotomy and intravenous infusion of saline may be performed in select patients if symptoms of hyperviscosity are severe.[5] Routine phlebotomy for asymptomatic erythrocytosis is not indicated. Anaemia and volume depletion can cause similar symptoms and should be excluded before starting this type of therapy.[5]

Patients with acquired VSD due to MI

Surgery is required in all patients, as mortality without surgery is extremely high.[6] Mortality is much lower with urgent surgery. Generally, patients undergo coronary angiography and intra-aortic balloon pump insertion prior to open surgery, in order to define coronary anatomy for possible coronary artery bypass grafting and to stabilise the patient with the intra-aortic balloon pump.[6] [ Cochrane Clinical Answers logo ] Concomitant coronary revascularisation appears to improve outcomes.[40] Percutaneous device closure is an option if the risks of open surgical closure are too high.[41][42]

Patients with acquired VSD due to trauma

VSD has been reported both after penetrating trauma such as stab wounds and, very rarely, after blunt trauma such as motor vehicle accident injuries. A traumatic VSD can manifest clinically over a range of time courses from immediate to delayed. A traumatic VSD is generally treated with surgical repair of the defect in patients with significant-sized defects. Small defects with insignificant shunts may be managed conservatively.

Prophylactic antibiotics

Due to the high flow velocity across the VSD, there is an increased risk of infective endocarditis in patients with VSDs compared with the general population. Even small defects that are not haemodynamically significant may cause endocarditis.[43]

A high index of suspicion should be maintained in these patients; infective endocarditis often presents non-specifically and most commonly involves fever with possible physical signs of peripheral emboli: Osler nodes, Roth spots, or Janeway lesions.

Antibiotic prophylaxis is no longer recommended in all patients with VSD, but is reserved for especially high-risk groups: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine gastrointestinal procedures.[2] The development of endocarditis as a complication is an indication for corrective closure of the VSD regardless of its size.

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