We searched PubMed with the term “ventricular septal defect”. We mainly selected publications from the past decade but did not exclude commonly cited references and highly regarded older publications. In view of recent advances in management of patients with Eisenmenger's syndrome, we undertook a separate search of PubMed with the term “Eisenmenger syndrome”. Further, we reviewed reference lists of articles identified from these searches and selected those we judged especially relevant.
SeminarVentricular septal defect
Introduction
Ventricular septal defect is one of the commonest congenital malformations of the heart, accounting for up to 40% of all cardiac anomalies.1 Frequency of this defect varies with age at examination, since many small malformations present at birth close shortly afterwards; it is also dependent on sensitivity of the examination technique. Prevalence in newborn babies of up to 5% has been reported from screening with highly sensitive colour doppler echocardiography.2 Most are tiny muscular defects that disappear during the first year of life.
Since many patients can be asymptomatic, and many anomalies close with time, the precise prevalence of ventricular septal defect within populations varies between studies, depending on mode of diagnosis and age of the population. In reports in which echocardiography was used in the diagnostic algorithm, a prevalence of up to 3·94 per 1000 patients has been recorded, which is greater than in previous work that relied on either clinical examination or post-mortem investigations.3, 4
Ventricular septal defect is not only a common isolated cardiac malformation but also an intrinsic component of several complex malformations, including tetralogy of Fallot or univentricular atrioventricular connection. It might also be associated with lesions, including transposition of the great arteries, congenitally corrected transposition, and aortic coarctation or interruption. However, in this Seminar we will concentrate on patients for whom ventricular septal defect is the predominant malformation.
Section snippets
Genetics and cause
Our understanding of the origins of ventricular septal defect is limited by our knowledge of mechanisms that lead to normal cardiac septation. At present, information suggests that the septum has both mesenchymal and muscular components.5 The mesenchymal element originates mainly from fusion of the conotruncal and atrioventricular endocardial cushions. Mechanisms that initiate development of the muscular septum are less well defined, and at least two processes have been proposed. Some
Anatomy
Ventricular septal defect, in many respects, can be deemed one of the simpler forms of congenital malformation of the heart. However, no universal consensus exists for its classification.24, 25, 26, 27 To be brief, we will present one system to describe the anatomy of ventricular septal defects because we believe the controversy surrounding these descriptors is beyond the scope of this Seminar.
Broadly speaking, defects can be classified according to their location, either within the muscular
Pathophysiology
Several key components determine the pathophysiological response to a ventricular septal defect. Primary factors are the amount and direction of interventricular shunting and the degree of volume loading to the cardiac chambers. Secondary effects include prolapse of the aortic valve and obstruction to the pulmonary or systemic outflow tract.
The amount of interventricular flow is determined by the size of the defect and relative resistances of pulmonary and systemic vascular beds. Small
Diagnosis
Clinical examination can show evidence of volume loading of the left ventricle from a large ventricular septal defect, with lateral displacement of the cardiac apex. A pansystolic murmur could be present, with intensity of the murmur indicating velocity of flow across the malformation, such that smaller defects are generally loudest and can be associated with a thrill. Large anomalies—leading to an increase in mitral inflow—could generate a diastolic rumble at the apex. Patients with
Symptomatic young infant with pulmonary hypertension
A baby with such symptoms would typically become breathless with failure to thrive within the first few weeks of life. In this situation, we would usually recommend surgery within 3 months of birth. While awaiting surgery, medical treatment with low doses of diuretics with or without angiotensin-converting-enzyme inhibitors is typically used, although the evidence-base for these strategies is sparse. Monitoring of blood pressure and renal function should be done because renal failure and
Endocarditis
Traditionally, antibiotic prophylaxis was recommended routinely in patients with ventricular septal defects to prevent procedure-associated endocarditis. This guidance is based on recognition that such individuals are at increased risk of endocarditis, that this disorder could result from bacteraemia, that dental procedures might result in bacteraemia, and that treatment with antibiotics might reduce risk of bacteraemia and endocarditis. However, later evidence indicates that endocarditis is
Surgery
Patch closure of a ventricular septal defect through sternotomy, with cardiopulmonary bypass, has been done for more than 50 years. With enhanced selection of patients, early surgery, and advances in perioperative care, operative mortality is low and substantial postoperative morbidity is rare.81 Usually, access to the defect is obtained through either the atrioventricular or semilunar valves, thus avoiding ventriculotomy. In some individuals, intraoperative temporary detachment of anterior and
Exercise
Adults with small ventricular septal defects, normal pulmonary arterial pressure, normal ventricular function, and no associated lesions should have a normal tolerance for exercise and, therefore, no exercise restrictions should be imposed (table).92 Those with pulmonary arterial hypertension usually self-restrict their amount of exercise. In a large study of adults with congenital heart disease who underwent formal testing, patients with Eisenmenger's syndrome achieved the lowest levels of
Search strategy and selection criteria
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