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Lutembacher Syndrome

Lutembachers Syndrome

Lutembacher syndrome is an extremely rare clinical entity characterized by a concomitant presence of an atrial septal defect and mitral stenosis. Both congenital and acquired disorders may be involved in the pathogenesis. Patients may be asymptomatic or present with severe clinical manifestations, depending on the severity of the defects. Cardiac ultrasonography, supported by electrocardiography and a thorough physical examination, is the mainstay of diagnosis.


Presentation

The clinical presentation of patients with Lutembacher syndrome depends on several factors - the size of the defect, severity of mitral valve stenosis and the ability of the right ventricle to overcome increased pressure [1]. Patients may be asymptomatic for decades or they can suffer from severe hemodynamic instability and heart failure early on [2] [3]. An atrial septal defect (ASD) invariably causes left-to-right shunting, while the occurrence of mitral stenosis further increases pressure in the left atria, directly contributing to the transfer of blood into the right heart [2] [3]. Consequently, symptoms arise due to reduced left ventricular output - exercise intolerance, palpitations, and fatigue [3] [4]. Prolonged shunting and severe mitral stenosis (or even insufficiency) can lead to atrial dilation and rhythm abnormalities, such as atrial fibrillation [3]. On the other hand, right ventricular overload and reduced compliance may progress to pulmonary hypertension and congestive heart failure, in which case a poor prognosis is observed [3] [4]. The majority of reports suggest that a predilection toward female gender exists [2] [3], whereas rheumatic fever, particularly in developing countries, seems to be the most important precipitating factor for mitral valve disease [3]. Although approximately 4% of ASDs are accompanied by a mitral valve defect, Lutembacher syndrome is very rarely reported in general practice [2] [4]. Nevertheless, its early recognition may be pivotal, especially in the setting of severe left-to-right shunting and pulmonary hypertension.

Ankle Edema
  • Ankle edema: This is also caused by a large ASD and has the same symptoms and causes as seen in weight gain and right upper quadrant pain.[en.wikipedia.org]
  • Weight gain, ankle edema, right upper quadrant pain, and ascites are seen more commonly in patients with large ASD. Such symptoms are manifestations of the development of right-sided heart failure.[checkorphan.org]
  • Patients with large atrial septal defects reveal signs and symptoms of weight gain, ankle edema , right upper abdominal pain, and ascites.[xpertdox.com]
Increased Susceptibility to Infections
  • susceptibility to infective endocarditis, in contrast to the low incidence of infective endocarditis in uncomplicated ASD,[ 1 ] just like in our case.[ncbi.nlm.nih.gov]
Painful Cough
  • There was no history of accompanying chest pain, cough, palpitations, fever, or symptoms of upper respiratory infections. There was no preceding or accompanying vaginal bleeding.[ncbi.nlm.nih.gov]
Right Upper Quadrant Pain
  • Ankle edema: This is also caused by a large ASD and has the same symptoms and causes as seen in weight gain and right upper quadrant pain.[en.wikipedia.org]
Heart Disease
  • Keywords :Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral stenosis[ajol.info]
  • Disease and Heart Disease in Pregnancy, Kaiser Foundation Hospitals, Panorama City, California, USA[books.google.com]
  • The most common cause of mitral stenosis is valvular heart disease or rheumatic heart disease. Rheumatic heart disease may lead to mitral stenosis or MS can be congenital. On the other hand, the atrial septal defect can be congenital or iatrogenic.[medicotips.com]
  • Guidelines on the management of valvular heart disease: The Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology. Eur Heart J 2007; 28 :230-68. [ PubMed ] [ Google Scholar ] 38.[ncbi.nlm.nih.gov]
  • The prevalence of both rheumatic heart disease and mitral stenosis was higher in western developed countries before the antibiotic era.[emedicine.com]
Mid-Diastolic Murmur
  • A loud first heart sound (S1) accompanied by an early-to-mid diastolic murmur is a typical sign of mitral stenosis, whereas splitting of the second heart sound (S2) and presence of third and fourth heart sounds (S3 and S4, respectively), most prominently[symptoma.com]
  • Mid diastolic murmurs: Left lower sternal border or at apex: increased flow across the tricuspid valve. Apex: mitral stenosis.[patient.info]
  • Heart sounds Loud first heart sound, opening snap, and a mitral early-to-mid diastolic murmur are the classic auscultatory findings of mitral stenosis and are variably present.[checkorphan.org]
  • diastolic murmur with presystolic accentuation.[jscisociety.com]
Increased Jugular Venous Pressure
  • jugular venous pressure Precordial examination Left parasternal lift, caused by transmitted right ventricular and pulmonary artery impulse, is common.[checkorphan.org]
Focal Neurologic Deficit
  • It can lead to complications like cranial nerve palsies, hydrocephalus, cerebral oedema or focal neurological deficits presenting as stroke.[ncbi.nlm.nih.gov]
Neglect
  • Neglected cardiovascular diseases in Africa: challenges and opportunities. J Am Coll Cardiol 2010; 55 :680-7. [ PubMed ] [ Google Scholar ] 4. Nagamani AC, Nagesh CM. Lutembacher Syndrome (Ch. 64).[ncbi.nlm.nih.gov]

Workup

Despite its rare nature, Lutembacher syndrome can be diagnosed only if a thorough workup is conducted. Firstly, a detailed patient history should reveal the onset and course of symptoms. Secondly, a meticulous physical examination, particularly cardiac auscultation and inspection of the thorax, must be conducted and serves as one of the key steps in making an initial diagnosis [3] [4]. A loud first heart sound (S1) accompanied by an early-to-mid diastolic murmur is a typical sign of mitral stenosis, whereas splitting of the second heart sound (S2) and presence of third and fourth heart sounds (S3 and S4, respectively), most prominently on the left sternal border during inspiration, are features that may point to ASD [3]. In addition, systolic murmurs at the left parasternal area can be heard on the grounds of increased pulmonary valve flow, holosystolic murmurs increasing during respiration may arise because of tricuspid regurgitation, while continuous murmurs might be encountered as well, the reason being persistent shunting through the ASD [3]. Physical examination can also reveal weak arterial pulses (due to reduced systemic blood flow) and elevated jugular venous pressure [3]. When valid clinical suspicion toward valvular or structural heart disease exists, electrocardiography (ECG), plain chest radiography and echocardiography are necessary to confirm the diagnosis [3]. P wave (bifid P wave in lead II) and QRS complex abnormalities (right bundle branch block, right ventricular hypertrophy, and right axis deviation) can be seen on ECG [3]. In addition, left atrial enlargement and pulmonary congestion may be noted on chest X-rays [3]. Doppler echocardiography, however, is the gold standard in the diagnosis of Lutembacher syndrome, as it may detect altered hemodynamic pathways and visualize ASD and impaired flow through the mitral valve [3].

Prominent A-Wave
  • […] orthopnoea, PND, hemoptysis ASD- exertional dyspnoea, fatigue, palpitations Signs of MS are less- Loud S1 is still present OS is rare MDM is short Signs of ASD are exaggerated- ESM is loud and is associated with thrill Other signs- JVP is raised and has prominent[heartpearls.com]

Treatment

  • Although it is traditionally corrected by surgical treatment, both conditions are amenable to transcatheter treatment without the need for surgery. We present a 49-year-old woman with Lutembacher syndrome.[ncbi.nlm.nih.gov]
  • Traditionally, Lutembacher syndrome is corrected by surgical treatment. Nowadays, these 2 diseases are amenable to transcatheter treatment without the need for surgery.[ncbi.nlm.nih.gov]
  • Traditionally, Lutembacher syndrome has been corrected by surgical treatment. We describe two patients treated percutaneouly with a combined Inoue balloon valvuloplasty and septal defect closure using the Amplatzer septal occlusion device.[ncbi.nlm.nih.gov]
  • This case attests the feasibility of transcatheter treatment in selected group of patients of Lutembacher treatment.[jscisociety.com]
  • ): An ideal combination for percutaneous treatment. ( 10506781 ) Cheng TO 1999 43 Suggested new operative approach in the treatment of Lutembacher's syndrome, with moderately hypoplastic left ventricle. ( 9230627 ) Nazem N....Nazem S. 1997 44 Lutembacher's[malacards.org]

Prognosis

  • It IS somewhat paradoxic that often, even in persons of advanced years, the question of possible congenital cardiac disease enters prominently into the problems of differential diagnosis and prognosis.[jamanetwork.com]
  • On the other hand, right ventricular overload and reduced compliance may progress to pulmonary hypertension and congestive heart failure, in which case a poor prognosis is observed.[symptoma.com]
  • Prognosis Mortality and morbidity rates are related to the relative severity of the individual lesions. Prognosis is generally good and patients have lived into their ninth decade without developing any cardiac symptoms.[patient.info]
  • Source: Medscape Prognosis - Lutembacher Syndrome Mortality and morbidity rates are related to the relative severity of the individual lesions.[checkorphan.org]
  • […] replacement bears a good prognosis and prolongs survival.[ncbi.nlm.nih.gov]

Etiology

  • Similarly, understanding of the etiology of ASD as associated with Lutembacher syndrome has evolved over time.[emedicine.com]
  • In this review, we present two cases, discuss the different definitions, etiologies, clinical presentation and management modalities.[heartviews.org]
  • Etiology Both the lesions in LS can be congenital or acquired. The incidence rate of congenital ASD in patients with MS is 0.6% to 0.7%.[ncbi.nlm.nih.gov]

Epidemiology

  • His interests are in incontinence in the elderly, the effects of medication and co-morbidity on continence status and the epidemiology and aetiology of incontinence in the elderly.[books.google.com]
  • Epidemiology It is very rare.[patient.info]
  • Epidemiology Frequency United States The true incidence of the syndrome is not clearly known.[emedicine.com]
  • Assuming a relatively uniform incidence of ASD worldwide, the incidence of co-existing rheumatic MS depends on the geographic prevalence of RHD. [4] Epidemiology The exact prevalence of LS is not known. [5] It is more likely to prevalent in areas with[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of Lutembacher syndrome is discussed below.[ncbi.nlm.nih.gov]
  • The pathophysiologic, clinical, and hemodynamic differences of mitral valve disease in the presence of atrial septal defect compared with isolated mitral stenosis are highlighted in this case review.[ncbi.nlm.nih.gov]
  • Pathophysiology or Mechanism of Lutembacher syndrome Lutembacher syndrome is the name of the presence of both atrial septal defect and mitral stenosis in the same patient and at the same time.[medicotips.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • A health care provider may recommend the atrial septal defect be closed for a child with a large atrial septal defect, even if there are few symptoms, to prevent problems later in life.[cdc.gov]
  • Centers for Disease Control and Prevention. Retrieved 2 May 2014. Hall, John (2011). Guyton and Hall Textbook of Medical Physiology. Philadelphia, PA: Saunders Elsevier. "René Lutembacher". www.whonamedit.com.[en.wikipedia.org]
  • Those that perform the procedure believe that they are preventing long-term deterioration in cardiac function and preventing progression of pulmonary hypertension.[marmur.com]
  • Source: Medscape Prevention - Lutembacher Syndrome Not supplied. Diagnosis - Lutembacher Syndrome Physical examination reveals signs due to the ASD and mitral stenosis, which are modified because of the presence of both lesions in the same patient.[checkorphan.org]

References

Article

  1. Olivares-Reyes A, Al-Kamme A. Lutembacher's syndrome with small atrial septal defect diagnosed by transthoracic and transesophageal echocardiography that underwent mitral valve replacement. J Am Soc Echocardiogr. 2005;18(10):1105.
  2. Behjatiardakani M, Rafiei M, Nough H, Rafiei R. Trans-catheter therapy of Lutembacher syndrome: a case report. Acta Med Iran. 2011;49(5):327-330.
  3. Aminde LN, Dzudie A, Takah NF, Ngu KB, Sliwa K, Kengne AP. Current diagnostic and treatment strategies for Lutembacher syndrome: the pivotal role of echocardiography. Cardiovasc Diagn Ther. 2015;5(2):122-132.
  4. Kulkarni SS, Sakaria AK, Mahajan SK, Shah KB. Lutembacher's syndrome. J Cardiovasc Dis Res. 2012;3(2):179-181.

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Last updated: 2019-07-11 21:03