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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • History of murmur appearing shortly after birth

  • Holosystolic murmur at left sternal border, radiating rightward

  • Echocardiographic findings of left atrial and left ventricular or biventricular enlargement; Doppler evidence of flow across the interventricular septum; increased pulmonary Doppler flow velocities

GENERAL CONSIDERATIONS

  • Many ventricular septal defects (VSDs) close spontaneously in childhood

  • Large defects often cause heart failure and are usually diagnosed early in childhood

  • Most defects diagnosed in adulthood are small and not hemodynamically significant

  • Persistent, large defects in adulthood are usually associated with Eisenmenger’s syndrome

  • VSDs are most commonly classified according to anatomic location:

    • – Perimembranous (also called infracristal, subaortic, or conoventricular), the most common, located below the aortic valve in the left ventricular (LV) outflow tract

    • – Supracristal (also called subpulmonary, outlet, infundibular, conoseptal, or doubly committed subarterial) are also defects involving the membranous septum

    • – The muscular VSDs, often multiple, may be located in the inlet or outlet regions or located within the trabecular septum

    • – Posterior (also called inlet, canal-type, endocardial cushion-type, atrioventricular septum type) occur posterior to the septal leaflet of the tricuspid valve

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Small shunts rarely cause symptoms, and the patient’s history is usually that of a murmur present from early childhood

  • Exertional dyspnea is present in patients > age 30 with moderate-sized defects

  • Patients with large defects and Eisenmenger’s syndrome are the most disabled

  • Hemoptysis may occur in patients with Eisenmenger’s syndrome

PHYSICAL EXAM FINDINGS

  • Findings depend on the size of the defect and the relative resistance of the systemic and pulmonary circulations

  • The patient with uncomplicated VSD is acyanotic with a laterally displaced, hyperdynamic LV apical impulse

  • Holosystolic murmur, with or without an associated thrill, is loudest in the left fourth or fifth intercostal space radiating to the right

  • Accentuated pulmonic component of S2

  • Narrowly split or single S2 in the presence of a moderate-to-large VSD

  • An S3 gallop and diastolic rumble

  • Patients with large defects have:

    • – Cyanosis

    • – Digital clubbing

    • – Prominent right ventricular (RV) lift

    • – A soft, short systolic murmur due to rapid equilibration of LV and RV pressures

DIFFERENTIAL DIAGNOSIS

  • Other causes of exertional dyspnea

  • Other causes of pulmonary hypertension

  • Tricuspid regurgitation

  • Mitral regurgitation

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • Erythrocytosis in patients with Eisenmenger’s syndrome

ELECTROCARDIOGRAPHY

  • Left atrial enlargement

  • LV hypertrophy

  • RV hypertrophy and strain in Eisenmenger’s patients

IMAGING STUDIES

  • Chest x-ray: heart size and pulmonary vascularity vary from normal to increased depending on the size of the VSD; patients with Eisenmenger’s syndrome have normal heart size with prominent pulmonary arteries

  • Two-dimensional and Doppler echocardiography usually defines the location ...

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