Many of the controversies surrounding the description of ventricular septal defects arise from differences in the perspectives from which they are viewed. In this review, we analyse these defects as seen in cross-sectional echocardiographic images, correlating them with morphologic specimens. The classification we advocate, which now has a suitable pedigree, is a simple descriptive method distinguishing between perimembranous, muscular, and doubly committed types of defects. The approach is to categorise the defects as seen from the right ventricle, the usual port of access for surgeons. The term ‘perimembranous’ highlights the proximity of the atrioventricular conduction axis to the margin of the defects in which the remnant of the membranous septum forms a direct border. This system is applicable to all interventricular communications, no matter how malformed the heart may be in which they are enclosed.

We describe 3 siblings with muscular ventricular septal defects, two requiring surgical closure. One of their offspring had a rare congenital aneurysm of the muscular ventricular septum, also requiring surgery. Another had a small muscular ventricular septal defect which closed spontaneously. Their father had echocardiographic evidence suggestive of a closed muscular defect. Paternal cousins have had ventricular septal defect, hypertrophic cardiomyopathy, and tetralogy of Fallot. There was no evidence of 22q11 deletion.

Although ventricular septal defects are the most common congenital heart defect, such familial clustering is uncommon. The distribution of cases in this family suggests autosomal dominant inheritance. With echocardiography, and more precise diagnosis of defects which close, a larger genetic component may be revealed in other families.

Background: Surgical closure of ventricular septal defects has been performed for many years, and is considered as the gold standard for treatment. It remains associated with morbidity and mortality. Transcatheter techniques have been developed in the last 10 years as a possible alternative to conventional surgery. Methods: The procedure is performed under general anaesthesia, and with continuous fluoroscopic and transesophageal echocardiographic guidance. Devices of the Amplatzer family, two in particular, have achieved a large popularity in clinical practice, and are currently the devices most commonly used to close muscular and perimembranous ventricular septal defect percutaneously. Results: Data from literature show that successful closure of muscular defects is obtained in around 96% of patients, with a rate of major complication of around 2%. Pooling data from the literature shows that successful closure of perimembranous defects is also obtained in 96% of patients, again with major acute complications in around 2%. The major problem is the occurrence of complete atrioventricular block, reported in 1.7% of subjects. Acquired defects can occur as residual leaks after surgical closure, or as consequence of myocardial infarction. There are very few data concerning percutaneous closure of postoperative residual defects. As for the surgical approach, in patients with post-myocardial defects the success rate of percutaneous closure is around 88%, with a mortality of 22%. Conclusions: Nowadays, in experienced hands, percutaneous closure is a safe and effective procedure. In selected patients, closure of congenital or acquired muscular and perimembranous ventricular septal defects can be considered a real alternative to the standard surgical approach, with the advantage of a significantly reduced rate of mortality and complications.