Lutembacher’s Syndrome - Causes, Symptoms, Diagnosis, and Treatment

What Is Lutembacher’s Syndrome?

Lutembacher’s syndrome is a combination of atrial septal defects that is congenital in nature, which develops mitral stenosis. Lutembacher’s syndrome is one of the most sporadic cardiovascular diseases, and it has generally been misdiagnosed or undiagnosed.

The heart has four chambers- two upper sections called the right atrium and left atrium, and two lower sections called the right ventricle and left ventricles. Parallel to four chambers, the heart has four valves- mitral valve, tricuspid valve, aortic valve, and pulmonary valve. The presence of a patent foramen ovale is natural during birth. The patent foramen ovale, or the PFO, is a tiny aperture in between the two chambers of the upper sections of the heart, called the right atrium and the left atrium. Generally, a very thin membrane or a wall that is made of two flaps that are connected to each other separates the two right and left atrium chambers. Due to this separation, no amount of blood can pass or flow between the two chambers. In the presence of a patent foramen ovale, only a small amount of blood is able to flow freely between the upper right and the left atriums via the flaps. Mitral valve stenosis or mitral valve insufficiency is a cardiovascular disease of the mitral valve of the heart in which there is a narrowing in the opening of the valve. The mitral valve is also called the bicuspid valve.

When a person suffers from Lutembacher’s syndrome, at the beginning stages, there is an increased amount of pressure in the left atrium which is because of mitral stenosis. This increased pressure was thought to develop patent foramen ovale leading to another pathway for the blood to pass through the left atrium. The direction of the passage of the blood depends on the compliance of the right and left ventricles. Because the right ventricle has higher compliance than the left ventricles, Lutembacher’s syndrome also develops irreversible pulmonary vascular disorders such as Eisenmenger syndrome.

What Are the Causes of Lutembacher’s Syndrome?

Lutembacher’s syndrome is an indirect result of an underlying and undiagnosed congenital cardiovascular disease. Rheumatic fever is one of the most common etiological factors that result in the development of Lutembacher’s syndrome. Mentioned below are a few of the reported causes of Lutembacher’s syndrome.

• Right ventricular failure.

• Mitral stenosis.

• Congenital heart disease.

• Patent foramen ovale.

• Rheumatic fever.

• The severe strain on the lungs.

• Osteum secundum.

• Atrial septal defect.

What Are the Signs and Symptoms of Lutembacher’s Syndrome?

Lutembacher’s syndrome is not diagnosed at an early stage because a majority of the patients who suffer from this disease are able to tolerate it without even realizing its presence. A physical examination, along with a thorough cardiovascular examination, is important to determine the presence of Lutembacher’s syndrome. Mentioned below are a few of the symptoms of Lutembacher’s syndrome.

• Hemoptysis (blood in cough).

• Paroxysmal nocturnal dyspnea.

• Orthopnea (shortness of breath while lying, standing, or sitting).

• Reduced cardiac output.

• Cold hands and feet.

• Clammy skin with bluish discoloration.

• Mumbling murmur.

• Palpitations.

• Fever in case of infection.

• High or low blood pressure.

• Heavy breathing after and while climbing stairs.

• Enlargement of the liver.

• Irregular heartbeat.

• Fluttering sensation in the chest.

• Difficulty sitting up.

• Insomnia.

• Tiredness in physical activities.

• Coughing.

• Bloating of the abdomen along with pain.

• Tightness in the chest.

• Shortness of breath.

• Chest pain.

• Fatigue.

• Elevation in the jugular vein.

• Abnormal pulse around the neck.

• Dizziness.

• Dyspnea (shortness of breath).

• Peripheral swelling or edema throughout the body.

• Increased jugular venous pressure.

• Congestive heart failure.

• The reduced stroke volume of the left ventricle.

• Prominent left parasternal heave.

• Systolic thrill.

• Loud first heart sound.

• Mid-diastolic rumbling murmur.

• Wide split-second heart sound.

• Holosystoliuc murmur.

• Carvallo’s sign.

How to Diagnose Lutembacher’s Syndrome?

Lutembacher’s syndrome generally gets noticed while performing other cardiovascular tests or a general checkup of the body. Mentioned below are the diagnostic measures required to detect the presence of Lutembacher’s syndrome.

• An echocardiogram is one of the most effective diagnostic tools for diagnosing tricuspid regurgitation.

• A stethoscopic examination revealed an abnormal murmur of the heart.

• Stress test.

• Computed tomography of the heart.

• Cardiac catheterization.

• Magnetic resonance imaging of the heart.

• A chest x-ray.

• Liver function test or LFT.

• A culture of the blood.

• Transesophageal echocardiogram.

• Doppler echocardiography.

What Is the Treatment of Lutembacher’s Syndrome?

Treatment of Lutembacher’s syndrome includes management of the signs and symptoms that the patient presents with. Mentioned below are a few of the treatment options for Lutembacher’s syndrome.

• Diuretics are a line of treatment for symptoms similar to right heart failure as well as pulmonary venous congestion.

• Beta-blockers, along with calcium channel blockers, are another line of treatment.

• In case there is the development of infective endocarditis, prophylaxis is highly recommended.

• The gold-standard treatment for Lutembacher’s syndrome remains open-heart surgery.

• Percutaneous interventional techniques, along with several cardiovascular hardware, have also seen advancements in being a treatment choice.

• Another preferred treatment choice for Lutembacher’s syndrome is percutaneous transcatheter therapy, along with subsequent device closure.

• Balloon mitral valvuloplasty.

What Are the Complications of Lutembacher’s Syndrome?

Any disease, especially cardiovascular disease, must not leave untreated. Early diagnosis is critical and dependent on the patient since he or she is responsible for consulting a heart specialist the moment they may feel any kind of abnormality with their heart or the presence of any of the above-mentioned signs and symptoms. Complications of Lutembacher’s syndrome arise because this condition is extremely rare and is often underdiagnosed or misdiagnosed. Mentioned below are a few of the difficulties that may arise due to Lutembacher’s syndrome.

• Pulmonary hypertension.

• Pulmonary edema.

• Hypertension.

• Cardiac failure.

• Enlargement of the heart.

• Atrial fibrillation.

• Blood clots.

• Chronic heart failure.

• Ascites.

Conclusion

Lutembacher’s syndrome is a combination of atrial septal defects that is congenital in nature, which develops mitral stenosis. Lutembacher’s syndrome is one of the most sporadic cardiovascular diseases, and it has generally been misdiagnosed or undiagnosed. When a person suffers from Lutembacher’s syndrome, at the beginning stages, there is an increased amount of pressure in the left atrium which is because of mitral stenosis. Early diagnosis is critical, with heart surgery being one of the most successful treatment options for the correction of Lutembacher’s syndrome.