Lutembacher’s Syndrome

KEY FEATURES

ESSENTIALS OF DIAGNOSIS

• Congenital atrial septal defect plus rheumatic mitral stenosis

GENERAL CONSIDERATIONS

• Atrial septal defect (ASD) is a common congenital heart disease that often escapes notice in early childhood if small

• In parts of the world where rheumatic heart disease is also common, occasionally ASD and mitral stenosis occur together (Lutembacher’s syndrome)

• What makes this coincidence of special importance is the physiologic interaction between the 2 conditions

• Mitral stenosis increases the pressure in the left atrium and increases the left-to-right shunt at the atrial level

• An ASD allows some decompression of left atrial pressure at the expense of reduced transatrial flow into the left ventricle

• Iatrogenic Lutembacher’s syndrome occurs when balloon mitral valvuloplasty for mitral stenosis is attempted by the transatrial septal approach and stenosis relief is incomplete

  • – The persistently high left atrial pressure in this situation prevents atrial septal healing and results in a persistent ASD

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

• Fatigue

• Dyspnea

• Signs of right heart failure

PHYSICAL EXAM FINDINGS

• Right ventricular lift

• Loud S ₁

• Fixed split S₂

• Opening snap

• Pulmonary flow murmur

• Diastolic mitral rumble

DIFFERENTIAL DIAGNOSIS

• Mitral stenosis with the opening snap mistaken for a wide fixed split S₂ and another systolic murmur (eg, innocent flow, mild mitral, or tricuspid regurgitation) mistaken for a pulmonary outflow murmur

• ASD with the wide fixed split S₂ mistaken for an opening snap and a tricuspid flow rumble mistaken for the murmur of mitral stenosis

• Ebstein’s anomaly of the tricuspid valve and an ASD

DIAGNOSTIC EVALUATION

ELECTROCARDIOGRAPHY

• Right ventricular hypertrophy

• Right and left atrial abnormality

• Atrial fibrillation

IMAGING STUDIES

• Echocardiography: demonstrates the thickened stenosed mitral valve and the ASD

• Doppler echocardiography: can quantitate the mitral valve area, the shunt fraction across the ASD, and the severity of any pulmonary hypertension

• Cardiac MRI is useful for quantitating the shunt flow and the severity of mitral stenosis

DIAGNOSTIC PROCEDURES

• Transesophageal echocardiography: may be needed to define the atrial septal anatomy and the location of the ASD

• Cardiac catheterization: may be necessary to confirm the severity of mitral stenosis, the magnitude of the shunt, and the severity of any pulmonary hypertension

TREATMENT

CARDIOLOGY REFERRAL

• Symptoms with signs of valvular or congenital heart disease

• Atrial fibrillation

• Heart failure

• Paradoxical embolism

• Suspected endocarditis

HOSPITALIZATION CRITERIA

• Heart failure

• Atrial fibrillation with rapid ventricular response

• Stroke

• Suspected endocarditis

MEDICATIONS

• Rate control ...