Eisenmenger syndrome

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Eisenmenger syndrome
Other namesES, Eisenmenger's reaction, Eisenmenger physiology, or Tardive cyanosis
Eyzenmenger sindromu.jpg
Schematic drawing showing the principles of Eisenmenger's syndrome
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg

Eisenmenger syndrome or Eisenmenger's syndrome is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect (typically by a ventricular septal defect, atrial septal defect, or less commonly, patent ductus arteriosus) causes pulmonary hypertension [1] [2] and eventual reversal of the shunt into a cyanotic right-to-left shunt. Because of the advent of fetal screening with echocardiography early in life, the incidence of heart defects progressing to Eisenmenger syndrome has decreased.

Contents

Eisenmenger syndrome in a pregnant mother can cause serious complications, [3] though successful delivery has been reported. [4] Maternal mortality ranges from 30% to 60%, and may be attributed to fainting spells, blood clots forming in the veins and traveling to distant sites, hypovolemia, coughing up blood or preeclampsia. Most deaths occur either during or within the first weeks after delivery. [5] Pregnant women with Eisenmenger syndrome should be hospitalized after the 20th week of pregnancy, or earlier if clinical deterioration occurs.

Signs and symptoms

Nail clubbing of fingers in a patient with Eisenmenger syndrome. First described by Hippocrates, clubbing is also known as "Hippocratic fingers". ClubbingFingers1.jpg
Nail clubbing of fingers in a patient with Eisenmenger syndrome. First described by Hippocrates, clubbing is also known as "Hippocratic fingers".

Signs and symptoms of Eisenmenger syndrome include the following: [6]

One of the most severe and common complications of Eisenmenger syndrome is cardiac arrhythmia, especially supraventricular arrhythmias. Approximately 40% of patients diagnosed with Eisenmenger syndrome were also found to have these arrhythmias during routine ECG screenings. These arrhythmias have worse prognosis in patients with Eisenmenger syndrome, compared to the general population, and can be a source of sudden cardiac death. [8]

Causes

A number of congenital heart defects can cause Eisenmenger syndrome, including atrial septal defects, ventricular septal defects, patent ductus arteriosus, and more complex types of acyanotic heart disease. [1]

Pathogenesis

The reason Eisenmenger syndrome often presents later in life can be explained by alterations of the normal physiology of the heart and the maladaptive responses that occur over time. The larger and more muscular left side of the heart must generate the high pressure required to supply blood to the extensive, high-resistance systemic circulation. In contrast, the smaller, right side of the heart must generate a much lower pressure in order to pass blood through the low-resistance, high compliance circulation of the lungs. The lungs are able to accomplish this low-resistance circulation largely due to the fact that the length of the pulmonary circulation is smaller, and because much of the circuitry is in parallel rather than in series. [ citation needed ]

If a significant anatomic defect (i.e. a hole or breach) exists between the two sides of the heart, a shunt will occur, causing blood to flow down the normal pressure gradient from the left side to the right side. The amount of blood shunted is proportional to the size of the defect, and the beat-to-beat volume of blood pumped through a left-to-right breach is a percentage of anticipated cardiac output (CO) of the left ventricle. Clinically a low index or percentage of CO ejected through a shunt is harmless; a high index or percentage of CO ejected through a left-to-right shunt heralds Eisenmenger's physiology.[ citation needed ]

The left-to-right shunting of blood results in abnormally high blood flow and pressure directed to the right heart circulation, gradually leading to maladaptive changes that ultimately result in pulmonary hypertension. Increased right-sided blood volume and pressure causes a cascade of pathologic damage to the delicate pulmonary capillaries, causing them to be incrementally replaced with scar tissue. Scar (dead lung tissue) does not contribute to oxygen transfer, therefore decreasing the useful volume of the pulmonary vasculature. The scar tissue also provides less flexibility and compliance than normal lung tissue, causing further increases in pulmonary blood pressure, and the weakened heart must pump harder to continue supplying the lungs, leading to damage of more capillaries. It is because of this maladaptive response that at the onset of Eisenmenger syndrome, the damage is considered irreversible, even if the underlying heart defect is corrected after the fact.[ citation needed ]

Eventually, due to increased resistance and decreased compliance of the pulmonary vessels, elevated pulmonary pressures cause the myocardium of the right heart to hypertrophy (RVH). The onset of Eisenmenger syndrome begins when right ventricular hypertrophy causes right heart pressures to exceed that of the left heart, leading to reversal of blood flow through the shunt (i.e., blood moves from the right side of the heart to the left side). As a consequence, deoxygenated blood returning from the body bypasses the lungs through the reversed shunt and proceeds directly to systemic circulation, leading to cyanosis and resultant organ damage.[ citation needed ]

The defect, now a right-to-left shunt, causes reduced oxygen saturation in the arterial blood due to mixing of oxygenated blood returning from the lungs with the deoxygenated blood returning from systemic circulation. This decreased saturation is sensed by the kidneys, resulting in a compensatory increase in erythropoietin production and an increased production of red blood cells in an attempt to increase oxygen delivery. As the bone marrow increases erythropoiesis, the systemic reticulocyte count and the risk for hyperviscosity syndrome increases. Reticulocytes are less efficient at carrying oxygen as mature red cells, and they are less deformable, causing impaired transit through capillary beds. This contributes to the death of pulmonary capillary beds.[ citation needed ]

A person with Eisenmenger syndrome is paradoxically subject to the possibility of both uncontrolled bleeding due to damaged capillaries and high pressure, as well as spontaneous clots due to hyperviscosity and stasis of blood.[ citation needed ]

Diagnosis

Diagnosis of Eisenmenger syndrome is typically conducted via transthoracic echocardiography, which facilitates the identification and evaluation of shunts, anatomical defects, and ventricular function. Following diagnosis, or in some cases of inconclusive diagnosis, a cardiac catheter may be used to both confirm the diagnosis and to assess the patient's pulmonary arterial pressure, an important predictive value for prognosis and treatment. [8]

Treatment

If the inciting defect in the heart is identified before it causes significant pulmonary hypertension, it can normally be repaired through surgery, preventing the disease. [9] After pulmonary hypertension is sufficient to reverse the blood flow through the defect, however, the maladaptation is considered irreversible, and a heart–lung transplant or a lung transplant with repair of the heart is the only curative option. Transplantation is the final therapeutic option and only for patients with poor prognosis and quality of life. Timing and appropriateness of transplantation remain difficult decisions. [5] 5-year and 10-year survival ranges between 70% and 80%, 50% and 70%, 30% and 50%, respectively. [10] [11] [12] Since the average life expectancy of patients after lung transplantation is as low as 30% at 5 years, patients with reasonable functional status related to Eisenmenger syndrome have improved survival with conservative medical care compared with transplantation. [13]

Various medicines and therapies for pulmonary hypertension are under investigation for treatment of the symptoms. [14] Air filters for intravenous lines are recommended for persons with Eisenmenger syndrome who have been hospitalized to reduce the risk of accidental introduction of air into the veins due to the increased risk for paradoxical air embolism. If air is introduced into the veins and travels through the ventricular septal defect into the arterial circulation, a stroke may occur.[ citation needed ]

Antiarrhythmic drugs are important for many patients with Eisenmenger syndrome, as evidence suggests that arrhythmia-induced sudden cardiac death may be the leading cause of death among patients with the disease. These therapies generally aim to restore and maintain sinus rhythm, but the specific interventions chosen will depend on the nature of the patient's arrhythmia. [8]

Etymology

Eisenmenger syndrome was named [15] by Paul Wood after Victor Eisenmenger, who first described [16] the condition in 1897. [17]

Related Research Articles

<span class="mw-page-title-main">Cardiology</span> Branch of medicine dealing with the heart

Cardiology is the study of the heart. Cardiology is a branch of medicine that deals with disorders of the heart and the cardiovascular system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart disease and electrophysiology. Physicians who specialize in this field of medicine are called cardiologists, a specialty of internal medicine. Pediatric cardiologists are pediatricians who specialize in cardiology. Physicians who specialize in cardiac surgery are called cardiothoracic surgeons or cardiac surgeons, a specialty of general surgery.

<span class="mw-page-title-main">Heart murmur</span> Medical condition

Heart murmurs are unique heart sounds produced when blood flows across a heart valve or blood vessel. This occurs when turbulent blood flow creates a sound loud enough to hear with a stethoscope. Turbulent blood flow is not smooth. The sound differs from normal heart sounds by their characteristics. For example, heart murmurs may have a distinct pitch, duration and timing. The major way health care providers examine the heart on physical exam is heart auscultation; another clinical technique is palpation, which can detect by touch when such turbulence causes the vibrations called cardiac thrill. A murmur is a sign found during the cardiac exam. Murmurs are of various types and are important in the detection of cardiac and valvular pathologies.

<span class="mw-page-title-main">Tetralogy of Fallot</span> Type of congenital heart defect

Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect characterized by four specific cardiac defects. Classically, the four defects are:

<span class="mw-page-title-main">Pulmonary heart disease</span> Medical condition

Pulmonary heart disease, also known as cor pulmonale, is the enlargement and failure of the right ventricle of the heart as a response to increased vascular resistance or high blood pressure in the lungs.

<span class="mw-page-title-main">Pulmonary edema</span> Fluid accumulation in the tissue and air spaces of the lungs

Pulmonary edema, also known as pulmonary congestion, is excessive liquid accumulation in the tissue and air spaces of the lungs. It leads to impaired gas exchange and may cause hypoxemia and respiratory failure. It is due to either failure of the left ventricle of the heart to remove oxygenated blood adequately from the pulmonary circulation, or an injury to the lung tissue directly or blood vessels of the lung.

<span class="mw-page-title-main">Atrial septal defect</span> Human heart defect present at birth

Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this does not naturally close after birth it is referred to as a patent (open) foramen ovale (PFO). It is common in patients with a congenital atrial septal aneurysm (ASA).

<span class="mw-page-title-main">Pulmonary hypertension</span> Medical condition

Pulmonary hypertension is a condition of increased blood pressure in the arteries of the lungs. Symptoms include shortness of breath, fainting, tiredness, chest pain, swelling of the legs, and a fast heartbeat. The condition may make it difficult to exercise. Onset is typically gradual.

A cyanotic heart defect is any congenital heart defect (CHD) that occurs due to deoxygenated blood bypassing the lungs and entering the systemic circulation, or a mixture of oxygenated and unoxygenated blood entering the systemic circulation. It is caused by structural defects of the heart such as right-to-left or bidirectional shunting, malposition of the great arteries, or any condition which increases pulmonary vascular resistance. The result may be the development of collateral circulation.

<span class="mw-page-title-main">Ventricular septal defect</span> Medical condition

A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. The extent of the opening may vary from pin size to complete absence of the ventricular septum, creating one common ventricle. The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.

<span class="mw-page-title-main">Fontan procedure</span>

The Fontan procedure or Fontan–Kreutzer procedure is a palliative surgical procedure used in children with univentricular hearts. It involves diverting the venous blood from the inferior vena cava (IVC) and superior vena cava (SVC) to the pulmonary arteries without passing through the morphologic right ventricle; i.e., the systemic and pulmonary circulations are placed in series with the functional single ventricle. The procedure was initially performed in 1968 by Francis Fontan and Eugene Baudet from Bordeaux, France, published in 1971, simultaneously described in 1971 by Guillermo Kreutzer from Buenos Aires, Argentina, and finally published in 1973.

<span class="mw-page-title-main">Cardiac catheterization</span> Insertion of a catheter into a chamber or vessel of the heart

Cardiac catheterization is the insertion of a catheter into a chamber or vessel of the heart. This is done both for diagnostic and interventional purposes.

<span class="mw-page-title-main">Hypoplastic left heart syndrome</span> Type of congenital heart defect

Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. It is estimated to account for 2-3% of all congenital heart disease. Early signs and symptoms include poor feeding, cyanosis, and diminished pulse in the extremities. The etiology is believed to be multifactorial resulting from a combination of genetic mutations and defects resulting in altered blood flow in the heart.

<span class="mw-page-title-main">Atrioventricular septal defect</span> Medical condition

Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect" (ECD), is characterized by a deficiency of the atrioventricular septum of the heart that creates connections between all four of its chambers. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.

<span class="mw-page-title-main">Hypoxemia</span> Abnormally low level of oxygen in the blood

Hypoxemia is an abnormally low level of oxygen in the blood. More specifically, it is oxygen deficiency in arterial blood. Hypoxemia has many causes, and often causes hypoxia as the blood is not supplying enough oxygen to the tissues of the body.

A right-to-left shunt is a cardiac shunt which allows blood to flow from the right heart to the left heart. This terminology is used both for the abnormal state in humans and for normal physiological shunts in reptiles.

<span class="mw-page-title-main">Right ventricular hypertrophy</span> Medical condition

Right ventricular hypertrophy (RVH) is a condition defined by an abnormal enlargement of the cardiac muscle surrounding the right ventricle. The right ventricle is one of the four chambers of the heart. It is located towards the lower-end of the heart and it receives blood from the right atrium and pumps blood into the lungs.

A cardiac shunt is a pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. It may be described as right-left, left-right or bidirectional, or as systemic-to-pulmonary or pulmonary-to-systemic. The direction may be controlled by left and/or right heart pressure, a biological or artificial heart valve or both. The presence of a shunt may also affect left and/or right heart pressure either beneficially or detrimentally.

<span class="mw-page-title-main">Lutembacher's syndrome</span> Medical condition

Lutembacher's syndrome is a very rare form of congenital heart disease that affects one of the chambers of the heart as well as a valve. It is commonly known as both congenital atrial septal defect (ASD) and acquired mitral stenosis (MS). Congenital atrial septal defect refers to a hole being in the septum or wall that separates the two atria; this condition is usually seen in fetuses and infants. Mitral stenosis refers to mitral valve leaflets sticking to each other making the opening for blood to pass from the atrium to the ventricles very small. With the valve being so small, blood has difficulty passing from the left atrium into the left ventricle. Septal defects that may occur with Lutembacher's syndrome include: Ostium primum atrial septal defect or ostium secundum which is more prevalent.

The following outline is provided as an overview of and topical guide to cardiology, the branch of medicine dealing with disorders of the human heart. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart disease and electrophysiology. Physicians who specialize in cardiology are called cardiologists.

Raghib syndrome is rare a congenital heart defect where the left superior vena cava (LSVC) is draining into the left atrium in addition to an absent coronary sinus and an atrial septal defect. This can be considered a dangerous heart condition because it puts the individual at a high risk of stroke. Other defects that are often associated with Raghib syndrome can include ventricular septal defects, enlargement of the tricuspid annulus, and pulmonary stenosis. While this is considered an extremely rare developmental complex, cases regarding a persistent left superior vena cava (PLSVC) are relatively common among congenital heart defects. It is also important to note that the PLSVC often drains into the right atrium, and only drains into the left atrium in approximately 10 to 20% of individuals with the defect.

References

  1. 1 2 Jensen AS, Iversen K, Vejlstrup NG, Hansen PB, Søndergaard L (April 2009). "[Eisenmenger syndrome]". Ugeskrift for Laeger (in Danish). 171 (15): 1270–5. PMID   19416617.
  2. ↑ " Eisenmenger syndrome " at Dorland's Medical Dictionary
  3. ↑ Siddiqui S, Latif N (2008). "PGE1 nebulisation during caesarean section for Eisenmenger's syndrome: a case report". J Med Case Rep. 2 (1): 149. doi:10.1186/1752-1947-2-149. PMC   2405798 . PMID   18466628.
  4. ↑ Makaryus AN, Forouzesh A, Johnson M (November 2006). "Pregnancy in the patient with Eisenmenger's syndrome". Mt. Sinai J. Med. 73 (7): 1033–6. PMID   17195894. Archived from the original on 2009-03-05. Retrieved 2008-12-20.
  5. 1 2 Curr Cardiol Rev. 2010 November; 6(4): 363–372.The Adult Patient with Eisenmenger Syndrome: A Medical Update after Dana Point Part III: Specific Management and Surgical Aspects Erwin Oechslin, Siegrun Mebus, Ingram Schulze-Neick, Koichiro Niwa, Pedro T Trindade, Andreas Eicken, Alfred Hager, Irene Lang, John Hess, and Harald Kaemmerer PMC   3083818
  6. ↑ "Eisenmenger syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-10-25.
  7. ↑ Braunwald E. Heart Disease: A Textbook of Cardiovascular Medicine. P 1617-1618. Ann Intern Med 1998; 128:745-755
  8. 1 2 3 Diller, Gerhard-Paul; Gatzoulis, Michael A. (2007-02-27). "Pulmonary Vascular Disease in Adults With Congenital Heart Disease". Circulation. 115 (8): 1039–1050. doi:10.1161/CIRCULATIONAHA.105.592386. ISSN   0009-7322. PMID   17325254. S2CID   10479313.
  9. ↑ "Eisenmenger syndrome". NIH MedLine Plus. 2010-02-05.
  10. ↑ Goerler H, Simon A, Gohrbandt B, et al. Heart-lung and lung transplantation in grown-up congenital heart disease: long-term single centre experience. Eur J Cardiothorac Surg. 2007;32(6):926–31. [PubMed]
  11. ↑ Waddell TK, Bennett L, Kennedy R, Todd TR, Keshavjee SH. Heart-lung or lung transplantation for Eisenmenger syndrome. J Heart Lung Transplant. 2002;21(7):731–7. [PubMed]
  12. ↑ Heart-lung transplantation for Eisenmenger syndrome: early and long-term results. Stoica SC, McNeil KD, Perreas K, Sharples LD, Satchithananda DK, Tsui SS, Large SR, Wallwork J Ann Thorac Surg. 2001 Dec; 72(6):1887-91.
  13. ↑ Beghetti, Maurice; Galiè, Nazzareno (Mar 2009). "Eisenmenger Syndrome". Journal of the American College of Cardiology. 53 (9): 733–740. doi:10.1016/j.jacc.2008.11.025. PMID   19245962.
  14. ↑ "Eisenmenger Syndrome Treatment & Management". MedScape Reference. 2008-06-05.{{cite journal}}: Cite journal requires |journal= (help)
  15. ↑ Wood, P (1958). "Pulmonary hypertension with special reference to the vasoconstrictive factor". British Heart Journal. 20 (4): 557–70. doi:10.1136/hrt.20.4.557. PMC   491807 . PMID   13584643.
  16. ↑ Eisenmenger V. Die angeborenen Defekte der Kammerscheidewände des Herzens. The condition was first mentioned by Hippocrates, the Greek physician. Zeitschr Klin Med 1897;32(Supplement):1-28.
  17. ↑ synd/3034 at Who Named It?
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