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]

• Platypnea

  Burke MA and Mikati IA described a case of platypnea orthodeoxia syndrome in patient with reverse Lutembacher syndrome [1]. This forty three year old lady had bioprosthetic tricuspid valve stenosis. [cardiophile.org]

  […] lutembacher syndrome with multiple atrial septal defects and infective endocarditis. ( 23058155 ) Firdous S. 2012 24 Percutaneous treatment of Lutembacher syndrome in a case with difficult mitral valve crossing. ( 22388316 ) Bhambhani A...Somanath HS 2012 25 Platypnea-orthodeoxia [malacards.org]

• 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]

  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 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]

  Diagnosis and Management of Adult Congenital Heart Disease, by Drs. Gatzoulis, Webb, and Daubeney, is a practical, one-stop resource designed to help you manage the unique challenges of treating long-term adult survivors of congenital heart disease. [books.google.com]

• Distractibility

  PMID: 30264037 [PubMed] PMCID: PMC6155992 EC Orthopaedics Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment. [ecronicon.com]

• 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]

  Neglected cardiovascular diseases in Africa: challenges and opportunities. J Am Coll Cardiol 2010;55:680-7. [PubMed] Nagamani AC, Nagesh CM. Lutembacher Syndrome (Ch. 64). In: Vijayalakshmi IB, Syamasundar Rao P, Chugh R. eds. [cdt.amegroups.com]

• Focal Neurological Deficit

  It can lead to complications like cranial nerve palsies, hydrocephalus, cerebral oedema or focal neurological deficits presenting as stroke. [ncbi.nlm.nih.gov]

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].

• Left Atrial Hypertrophy

  There was no left atrial hypertrophy. X-ray chest revealed cardiomegaly, right ventricular enlargement, dilated pulmonary artery segment and increased pulmonary arterial vasculature. [jpgmonline.com]

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]

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]

[…] surgery has been the traditionally accepted modality of treatment. [heartasia.bmj.com]

Lutembacher's syndrome Microchapters Home Overview Historical Perspective Pathophysiology Epidemiology and Demographics Natural History, Complications and Prognosis Diagnosis History and Symptoms Physical Examination Electrocardiogram X-Ray Echocardiography [wikidoc.org]

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]

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]

The prognosis is good before the onset of pulmonary hypertension and right heart failure. [cdt.amegroups.com]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Pascal 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. [pascal-francis.inist.fr]

Following atrial septal defect closure, the patient developed pulmonary oedema and on careful search she was found to have tight mitral stenosis of rheumatic etiology. [jpgmonline.com]

Similarly, understanding of the etiology of ASD as associated with Lutembacher syndrome has evolved over time. [emedicine.medscape.com]

Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2] Overview Historical Perspective Pathophysiology Epidemiology and Demographics Epidemiology Demographics Natural History, Complications and Prognosis Natural [wikidoc.org]

English: 2008 (1963) Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

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]

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 higher [ncbi.nlm.nih.gov]

The pathophysiology of Lutembacher syndrome is discussed below. [ncbi.nlm.nih.gov]

Lutembacher's syndrome Microchapters Home Overview Historical Perspective Pathophysiology Epidemiology and Demographics Natural History, Complications and Prognosis Diagnosis History and Symptoms Physical Examination Electrocardiogram X-Ray Echocardiography [wikidoc.org]

Grasp the full scope of the pathophysiology of CHD with well-organized, expert guidance. Quickly search the contents online, download images in JPG or PPT format, and view 70 echocardiogram videos at expertconsult.com. [books.google.com]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

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]

Reading Glasses to Prevent Myopia. PMID: 31080964 [PubMed] PMCID: PMC6508883 EC Gynaecology Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions. [ecronicon.com]

In Lutembacher’s syndrome, ASD prevents back pressure to pulmonary vasculature and congestion. Likewise, features related to lung congestion such as orthopnea, paroxysmal nocturnal dyspnea, hemoptysis, and pulmonary edema are delayed or attenuated. [hindawi.com]

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.