Eisenmenger syndrome

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Eisenmenger syndrome
Other namesES, Eisenmenger's syndrome, Eisenmenger reaction, tardive cyanosis.
Eisenmenger Syndrome.png
Eisenmenger Syndrome due to a ventricular septal defect
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg
TreatmentSupportive measures, transplant surgery

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. [9]

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]

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. [9]

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. [10] 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. [11] [12] [13] 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. [14]

Various medicines and therapies for pulmonary hypertension are under investigation for treatment of the symptoms. [15]

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. [9]

Etymology

Eisenmenger syndrome was named [16] by Paul Wood after Victor Eisenmenger, who first described [17] the condition in 1897. [18]

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 sub-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. 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">Patent ductus arteriosus</span> Condition wherein the ductus arteriosus fails to close after birth

Patent ductus arteriosus (PDA) is a medical condition in which the ductus arteriosus fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs through the aorta, which has a higher blood pressure, to the pulmonary artery, which has a lower blood pressure. Symptoms are uncommon at birth and shortly thereafter, but later in the first year of life there is often the onset of an increased work of breathing and failure to gain weight at a normal rate. With time, an uncorrected PDA usually leads to pulmonary hypertension followed by right-sided heart failure.

<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> Increased blood pressure in lung arteries

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. According to the definition at the 6th World Symposium of Pulmonary Hypertension in 2018, a patient is deemed to have pulmonary hypertension if the pulmonary mean arterial pressure is greater than 20mmHg at rest, revised down from a purely arbitrary 25mmHg, and pulmonary vascular resistance (PVR) greater than 3 Wood units.

<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> Surgical procedure used in children with univentricular hearts

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. The procedure varies for differing congenital heart pathologies. For example in tricuspid atresia, the procedure can be done where the blood does not pass through the morphologic right ventricle; i.e., the systemic and pulmonary circulations are placed in series with the functional single ventricle. Whereas in hypoplastic left heart syndrome, the heart is more reliant on the more functional right ventricle to provide blood flow to the systemic circulation. The procedure was initially performed in 1968 by Francis Fontan and Eugene Baudet from Bordeaux, France, published in 1971, simultaneously described in July 1971 by Guillermo Kreutzer from Buenos Aires, Argentina, presented at the Argentinean National Cardilogy meeting of that year and finally published in 1973.

Situs ambiguus, or heterotaxy, is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Clinically heterotaxy spectrum generally refers to any defect of left-right asymmetry and arrangement of the visceral organs; however, classical heterotaxy requires multiple organs to be affected. This does not include the congenital defect situs inversus, which results when arrangement of all the organs in the abdomen and chest are mirrored, so the positions are opposite the normal placement. Situs inversus is the mirror image of situs solitus, which is normal asymmetric distribution of the abdominothoracic visceral organs. Situs ambiguus can also be subdivided into left-isomerism and right isomerism based on the defects observed in the spleen, lungs and atria of the heart.

<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.

The Rastelli procedure is an open heart surgical procedure developed by Italian physician and cardiac surgery researcher, Giancarlo Rastelli, in 1967 at the Mayo Clinic, and involves using a pulmonary or aortic homograft conduit to relieve pulmonary obstruction in double outlet right ventricle with pulmonary stenosis.

<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. Several structures can be affected including the left ventricle, aorta, aortic valve, or mitral valve all resulting in decreased systemic blood flow.

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

Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. The pulmonary valve is located on the right side of the heart between the right ventricle and pulmonary artery. In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close.

<span class="mw-page-title-main">Persistent truncus arteriosus</span> Medical condition

Persistent truncus arteriosus (PTA), often referred to simply as truncus arteriosus, is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta. This results in one arterial trunk arising from the heart and providing mixed blood to the coronary arteries, pulmonary arteries, and systemic circulation. For the International Classification of Diseases (ICD-11), the International Paediatric and Congenital Cardiac Code (IPCCC) was developed to standardize the nomenclature of congenital heart disease. Under this system, English is now the official language, and persistent truncus arteriosus should properly be termed common arterial trunk.

<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" 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 a very specific combination of 3 defects:

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">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.

<span class="mw-page-title-main">Aortopulmonary window</span> Medical condition

Aortopulmonary window (APW) is a faulty connection between the aorta and the main pulmonary artery that results in a significant left-to-right shunt. The aortopulmonary window is the rarest of septal defects, accounting for 0.15-0.6% of all congenital heart malformations. An aortopulmonary window can develop alone or in up to 50% of cases alongside other cardiac defects such as interrupted aortic arch, coarctation of the aorta, transposition of great vessels, and tetralogy of Fallot.

<span class="mw-page-title-main">Pulmonary atresia with ventricular septal defect</span> Type of congenital heart defect

Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract.

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 Oechslin, Erwin; Mebus, Siegrun; Schulze-Neick, Ingram; Niwa, Koichiro; Trindade, Pedro T; Eicken, Andreas; Hager, Alfred; Lang, Irene; Hess, John; Kaemmerer, Harald (2010). "The Adult Patient with Eisenmenger Syndrome: A Medical Update after Dana Point Part III: Specific Management and Surgical Aspects". Current Cardiology Reviews. 6 (4): 363–372. doi:10.2174/157340310793566127. ISSN   1573-403X. PMC   3083818 . PMID   22043213.
  6. ↑ "Eisenmenger syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-10-25.
  7. ↑ Mann, Douglas L.; Zipes, Douglas P.; Libby, Peter; Bonow, Robert O.; Braunwald, Eugene (2015). Braunwald's Heart Disease. Philadelphia, PA: Saunders. p. 1617-1618. ISBN   978-0-323-29429-4.
  8. ↑ Vongpatanasin, W.; Brickner, M. E.; Hillis, L. D.; Lange, R. A. (1998-05-01). "The Eisenmenger syndrome in adults". Annals of Internal Medicine. 128 (9): 745–755. doi:10.7326/0003-4819-128-9-199805010-00008. ISSN   0003-4819. PMID   9556469.
  9. 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.
  10. ↑ "Eisenmenger syndrome". NIH MedLine Plus. 2010-02-05.
  11. ↑ Goerler, Heidi; Simon, Andre; Gohrbandt, Bernhard; Hagl, Christian; Oppelt, Petra; Weidemann, Juergen; Haverich, Axel; Strueber, Martin (2007). "Heart-lung and lung transplantation in grown-up congenital heart disease: long-term single centre experience". European Journal of Cardio-Thoracic Surgery: Official Journal of the European Association for Cardio-Thoracic Surgery. 32 (6): 926–931. doi:10.1016/j.ejcts.2007.08.024. ISSN   1010-7940. PMID   17900918.
  12. ↑ Waddell, Thomas K.; Bennett, Leah; Kennedy, Renee; Todd, Thomas R. J.; Keshavjee, Shaf H. (2002). "Heart-lung or lung transplantation for Eisenmenger syndrome". The Journal of Heart and Lung Transplantation: The Official Publication of the International Society for Heart Transplantation. 21 (7): 731–737. doi:10.1016/s1053-2498(01)00420-x. ISSN   1053-2498. PMID   12100899.
  13. ↑ Stoica, S. C.; McNeil, K. D.; Perreas, K.; Sharples, L. D.; Satchithananda, D. K.; Tsui, S. S.; Large, S. R.; Wallwork, J. (2001). "Heart-lung transplantation for Eisenmenger syndrome: early and long-term results". The Annals of Thoracic Surgery. 72 (6): 1887–1891. doi:10.1016/s0003-4975(01)03099-5. ISSN   0003-4975. PMID   11789765.
  14. ↑ 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.
  15. ↑ Penalver, Jorge L (2019-04-15). "Eisenmenger Syndrome Treatment & Management: Approach Considerations, Oxygen Therapy, Pulmonary Vasodilator Therapy". Medscape Reference. Retrieved 2024-08-10.
  16. ↑ 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.
  17. ↑ V, Eisenmenger (1897). "Die angeborenen Defekte der Kammerscheidewand des Herzens". Z Klin Med. 32: 1–28.
  18. ↑ synd/3034 at Who Named It?
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