Lutembacher's syndrome

WikiDoc Resources for Lutembacher's syndrome
Articles
Most recent articles on Lutembacher's syndrome Most cited articles on Lutembacher's syndrome Review articles on Lutembacher's syndrome Articles on Lutembacher's syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Lutembacher's syndrome Images of Lutembacher's syndrome Photos of Lutembacher's syndrome Podcasts & MP3s on Lutembacher's syndrome Videos on Lutembacher's syndrome
Evidence Based Medicine
Cochrane Collaboration on Lutembacher's syndrome Bandolier on Lutembacher's syndrome TRIP on Lutembacher's syndrome
Clinical Trials
Ongoing Trials on Lutembacher's syndrome at Clinical Trials.gov Trial results on Lutembacher's syndrome Clinical Trials on Lutembacher's syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Lutembacher's syndrome NICE Guidance on Lutembacher's syndrome NHS PRODIGY Guidance FDA on Lutembacher's syndrome CDC on Lutembacher's syndrome
Books
Books on Lutembacher's syndrome
News
Lutembacher's syndrome in the news Be alerted to news on Lutembacher's syndrome News trends on Lutembacher's syndrome
Commentary
Blogs on Lutembacher's syndrome
Definitions
Definitions of Lutembacher's syndrome
Patient Resources / Community
Patient resources on Lutembacher's syndrome Discussion groups on Lutembacher's syndrome Patient Handouts on Lutembacher's syndrome Directions to Hospitals Treating Lutembacher's syndrome Risk calculators and risk factors for Lutembacher's syndrome
Healthcare Provider Resources
Symptoms of Lutembacher's syndrome Causes & Risk Factors for Lutembacher's syndrome Diagnostic studies for Lutembacher's syndrome Treatment of Lutembacher's syndrome
Continuing Medical Education (CME)
CME Programs on Lutembacher's syndrome
International
Lutembacher's syndrome en Espanol Lutembacher's syndrome en Francais
Business
Lutembacher's syndrome in the Marketplace Patents on Lutembacher's syndrome
Experimental / Informatics
List of terms related to Lutembacher's syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-in-Chief: Ayokunle Olubaniyi, M.B,B.S

Overview

Lutembacher's syndrome is a rare form of congenital heart disease. It refers to a combination of congenital atrial septal defect, or even a patent foramen ovale (PFO) complicated by an acquired mitral stenosis. The atrial septal defect is usually a specific type called a secundum atrial septal defect. This syndrome was named after René Lutembacher, a french cardiologist, who described the syndrome in 1916. Iatrogenic Lutembacher's syndrome has also been reported.

Pathophysiology

The presence of both ASD and mitral stenosis occuring together, usually modify the clinical and hemodynamic manifestation of each other. The presence of an ASD creates a second exit (left-to-right shunt) for the blood in the left atrium; consequently reducing the hemodynamic effects of a severe mitral stenosis. In the same fashion, the pressure in the left atrium, pulmonary veins and the pulmonary capillaries decrease if the ASD is large. Therefore, the typical presentation of mitral stenosis as a result of pulmonary venous congestion such as orthopnea, paroxsymal nocturnal dyspnea, hemoptysis and pulmonary edema are attenuated or diminished, and are often substituted by symptoms of low volume output such as weakness and fatigue.

Epidemiology and Demographics

This is a very rare disease. The incidence is 0.001/1000000. This syndrome is more frequently seen in adults because the mitral stenosis is usually an acquired valvulopathy of rheumatic origin. It is also more commonly observed in female patients because both ASD and MS are more prevalent in this gender.

Complications and Prognosis

Complications are usually related to a late diagnosis. They include pulmonary hypertension, heart failure and infective endocarditis. Early diagnosis and surgical treatment has a good prognostic value.

Diagnosis

History and Symptoms

The presentation depends on the size of ASD, extent of mitral stenosis, compliance of the right ventricle and degree of changes in the pulmonary circulation. Symptoms can be due to:

• Heart failure - weakness, fatigue, tachypnea, dyspnea, confusion, paroxsymal nocturnal dyspnea
• Arrythmias - Shortness of breath, palpitations, angina, exercise intolerance
• Paradoxical emboli - Stroke

Physical Examination

The physical findings in an adult with Lutembacher's syndrome depends on:

• Size of the ASD
• Degree of left-to-right shunt
• Pressure in pulmonary vasculature
• Severity of the mitral stenosis
• Distensibility of the right ventricle
• Any associated anomalies -

Inspection

• Precordial bulge: The left-to-right shunting of blood causes right atrial enlargement that can present as a precordial bulge. The precordial bulge can cause a counter development of Harrison's groove that are horizontal depressions along the sixth and seventhcostal cartilages at the lower margin of the thorax where the diaphragm attaches to the ribs.
• Precordial lift: An increased left-to-right atrial shunt can cause a hyperdynamic right ventricular flow that can be seen as precordial lift on inspection.

Palpation

• Right ventricular impulse: An increased left-to-right atrial shunt can cause a hyperdynamic right ventricular impulse or heave. The heave can be best palpated at the left sternal border or the subxiphoid area.
• Pulmonary artery pulsations: Pulsatile, enlarged pulmonary artery pulsation can be felt at the second left intercostal space. These are more pronounced in patients with large left-to-right shunts. Patients with obstruction to right ventricular outflow have a less dynamic right ventricular impulse and may present with more of a tapping or thrusting quality.

Auscultation

The classic presentation of pure mitral stenosis such as the loud first heart sound, opening snap, mid-diastolic rumble with presystolic accentuation are not usually heard. A continuous murmur may be present in some cases of Lutembacher's syndrome with small ASD and a tight mitral stenosis because of the high left atrium-to-low right atrial pressure difference across the ASD, which persists during the entire cardiac cycle. A loud pulmonic mid-systollic murmur and a holosystollic murmur due to the presence of a tricuspid regurgitation may also be present in these patients.

Electrocardiogram

EKG features may include a normal sinus rhythm, normal PR interval/normal QTc, right bundle branch block (RBBB), bi-atrial enlargement, left ventricular hypertrophy.

Chest X Ray

CXR findings on an anteroposterior view of the chest x-ray in Lutembacher's syndrome may include:

1) Prominent pulmonary artery, increased pulmonary vascular markings.

2) Cardiomegaly due to right atrial and ventricular enlargement.

Echocardiography

This is often required in order to make a diagnosis. It can be used to assess the degree of severity of the condition through the estimation of the left ventricular ejection fraction. Features may include left ventricular hypertrophy, bi-atrial enlargement and valvular thickenings and calcifications.

Treatment

Transcathetar treatment

Traditionally, this condition has been treated surgically. Nowadays, it can be treated with percutaneous transcathetar mitral commissurotomy (PTMC) using the Inoue balloon. The ASD was closed with an Amplatzer atrial septal occluder under transthoracic echocardiogram (TTE) guidance without general anesthesia.

References

Template:WikiDoc Sources