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]

• 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. [odlarmed.com]

  diastolic murmur with presystolic accentuation. [jscisociety.com]

• Distractibility

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

• 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]

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].

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.