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.[1] 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.[2] Iatrogenic Lutembacher's syndrome has also been reported.[3]
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, paroxysmal 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.[4]
Epidemiology and Demographics
This is a very rare disease. The incidence is 0.001/1000000[5]. 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.[4]
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.[4] Symptoms can be due to:
- Heart failure - weakness, fatigue, tachypnea, dyspnea, confusion, paroxysmal 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
- Other associated anomalies such as tricuspid regurgitation, aortic stenosis
Heart
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 seventh costal 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.[4] 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.[4] 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.[4]
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
Percutaneous approach
Traditionally, this condition has been treated surgically.[6] Nowadays, it can be treated with percutaneous transcathetar mitral commissurotomy (PTMC) using the Inoue balloon.[7] The Inoue technique has become the procedure of choice around the world with excellent long term results.[8] The ASD was closed with an Amplatzer atrial septal occluder under transthoracic echocardiogram (TTE) guidance without general anesthesia.[7] By combining these two techniques in the same patient at the same cardiac catheterization, percutaneous management of Lutembacher syndrome can obviate the morbidity and mortality associated with cardiac surgery, the psychological trauma of a thoracotomy scar, the prolonged hospital stay followed by another prolonged period of home convalescence and the possibility of repeat thoracotomy for mitral restenosis.[6]
Surgical approach
The mitral valve can either be repaired or replaced. Mitral valve repair is the treatment of choice for patients with both secundum ASD and mitral valve disease.[9] When valve replacement is the only alternative, selection of prosthetic valves and maintenance of cardiac output by temporary cardiac pacing are important considerations.[9]
References
- ↑ Goldman 2011, pp. 400
- ↑ Shen XQ, Zhou SH, Zhou T, Qi SS, Fang ZF, Lv XL (2005). "Transcatheter treatment of Lutembacher syndrome". Chin Med J (Engl). 118 (21): 1843–5. PMID 16336826.
- ↑ Sadaniantz A, Luttmann C, Shulman RS, Block PC, Schachne J, Thompson PD (1990). "Acquired Lutembacher syndrome or mitral stenosis and acquired atrial septal defect after transseptal mitral valvuloplasty". Cathet Cardiovasc Diagn. 21 (1): 7–9. PMID 2208272.
- ↑ 4.0 4.1 4.2 4.3 4.4 4.5 Olivares-Reyes A, Al-Kamme A (2005). "Lutembacher's syndrome with small atrial septal defect diagnosed by transthoracic and transesophageal echocardiography that underwent mitral valve replacement". J Am Soc Echocardiogr. 18 (10): 1105. doi:10.1016/j.echo.2005.01.017. PMID 16198889.
- ↑ Berry NS, Bauman JL, Gallastegui JL, Bauma W, Beckman KJ, Hariman RJ (1988). "Analysis of antiarrhythmic drug concentrations determined during electrophysiologic drug testing in patients with inducible tachycardias". Am J Cardiol. 61 (11): 922–4. PMID 3354470.
- ↑ 6.0 6.1 Cheng TO (1999). "Coexistent atrial septal defect and mitral stenosis (Lutembacher syndrome): An ideal combination for percutaneous treatment". Catheter Cardiovasc Interv. 48 (2): 205–6. PMID 10506781.
- ↑ 7.0 7.1 Shabbir M, Ahmed W, Akhtar K (2008). "Transcatheter treatment of Lutembacher's syndrome". J Coll Physicians Surg Pak. 18 (2): 105–6. doi:02.2008/JCPSP.105106 Check
|doi=value (help). PMID 18454897. - ↑ Chen CR, Cheng TO (1995). "Percutaneous balloon mitral valvuloplasty by the Inoue technique: a multicenter study of 4832 patients in China". Am Heart J. 129 (6): 1197–203. PMID 7754954.
- ↑ 9.0 9.1 Shigenobu M, Sano S (1994). "Surgical indications and treatment of mitral valve disease associated with secundum atrial septal defect with special reference to left ventricular geometry and function". J Cardiovasc Surg (Torino). 35 (6): 469–74. PMID 7698959.