Interrupted aortic arch

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Interrupted aortic arch
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Interrupted aortic arch is a very rare heart defect (affecting 3 per million live births) [1] in which the aorta is not completely developed. There is a gap between the ascending and descending thoracic aorta. In a sense it is the complete form of a coarctation of the aorta. Almost all patients also have other cardiac anomalies, including a ventricular septal defect (VSD), aorto-pulmonary window, and truncus arteriosus. There are three types of interrupted aortic arch, with type B being the most common. Interrupted aortic arch (especially Type B) is often associated with DiGeorge syndrome.

Contents

Signs and symptoms

Patients with an interrupted aortic arch usually have symptoms from birth, with nearly all presenting symptoms within two weeks (when the ductus arteriosus is usually closed). [2]

Causes

It is thought that an interrupted aortic arch occurs through excessive apoptosis in the developing, embryonic aorta. [3] Around 50% of patients have DiGeorge syndrome. [2] [4]

Diagnosis

It can be diagnosed with a standard echocardiogram. [4] An echocardiogram can also aid in classifying the type of defect. [4] The diagnosis can also be made prior to birth via ultrasound. [3] Patients will have a loss of appetite, appear tired and weak, and exhibit rapid breathing and a rapid heart rate. [5] If the condition progresses, the infant may turn pale, feel cold in the lower half of the body, and have a weak pulse due to insufficient blood flow. [5] The pattern of pulse abnormalities is dependent upon the classification; e.g., for type B interrupted aortic arch, the right brachial pulse will be palpable and the left brachial and femoral pulses will be impalpable due to closure of the ductus arteriosus. [3] Rarely, an interrupted aortic arch can be associated with an intracranial aneurysm. [6] Signs of ischemia due to interrupted aortic arch can be separated by the organ system involved: [3]

CHARGE syndrome, a specific, rare pattern of genetic abnormalities, commonly features conotruncal and aortic arch heart defects, which can include an interrupted aortic arch. [7]

Classification

There are three primary classifications for an interrupted aortic arch, on the basis of the specific, anatomic anomaly. [5] They are:

Each class can be divided into two subgroups, based upon whether the right subclavian artery originated in a normal, anatomical position (subgroup 1) or if it originated distal to the left subclavian artery and continues behind the esophagus (subgroup 2). [8] However, these subgroups do not affect how the disease is diagnosed or treated. [8]

Treatment

Prostaglandins

If the diagnosis is made prenatally, prostaglandin E1 (PGE1) is started after birth to avoid closure of the ductus arteriosus. [3] Prostaglandin therapy is performed via a continuous infusion, due to how quickly prostaglandins are metabolized in the body. [9] However, the diagnosis may go undetected, delaying treatment until closure of the ductus arteriosus produces symptoms. [3]

Surgery

Curative treatment consists of open heart surgery soon after birth, preferably immediately after diagnosis. [2] Often, a synthetic patch is used to recreate the lost section of aorta. [2] Recent research has revealed that an initial single-stage repair using direct anastomoses and repair of any existing cardiac defects is the preferred surgical technique, as opposed to a two-stage surgical repair. [10] Awaiting surgery, prostaglandin can be administered to keep the ductus arteriosus open, thereby allowing blood flow to the lower body. After successful treatment, the patient is monitored for the rest of their life by a specialist to ensure that problems do not occur. [5]

Prognosis

Failure to treat the condition yields a mortality rate of 90% at a median age of 4 days. [1] Death occurs due to increased blood flow from the left side of the heart (oxygenated blood) to the right side (deoxygenated blood), inducing heart failure; pulmonary edema; and eventual closing of the ductus arteriosus. [8] For an infant with an interrupted aortic arch, a patent (open) ductus arteriosus allows for blood to bypass the "interruption," without which blood will be unable to reach the lower half of the body. [11] As a result, the kidneys fail and the blood becomes acidic, resulting in death. [8]

With modern surgical techniques, 81% of children with an interrupted aortic arch survive to be 15 years-old. [6] The fate of survivors in the long-term is still unclear. [1]

Surgical complications

The most common, early complication of surgery is bleeding, the risk of which can be increased by prematurity, prolonged acidosis prior to surgery, and excessive tension on the anastamosis due to inadequate mobilization of the ascending and descending aorta. [3] Other early complications include damage to the left recurrent laryngeal nerve and the phrenic nerve. [3] Late complications include obstruction of the graft and obstruction of the left main bronchus (which passes underneath the aortic arch). [3]

Epidemiology

The incidence of an interrupted aortic arch is extremely rare, occurring between three [1] and twenty times per 1,000,000 births. [12] In the context of other congenital cardiac abnormalities, interrupted aortic arch represents about 1.5% of cases. [2] [3]

History

The condition was first identified by Dr. Raphael Steidele, Professor of Obstetrics at the University of Vienna, in 1778. [13] In the case Steidele described, the infant had a type A interrupted aortic arch, and survived only for "a few hours." [13] In homage to the discoverer, the terminology of "Steidele's complex" has been used to describe an interrupted aortic arch. [13] The first type B interrupted aortic arch was reported by Seidel in 1818, and the first type C was reported by Weisman and Kesten in 1948. [8] The classification system (Types A, B, and C) were defined by Celoria and Patton in 1959. [1]

The first successful repair of a Type A interrupted aortic arch was reported in 1961, in which the left subclavian artery was grafted into the descending thoracic aorta in a 14-year-old male patient. [8] The first successful repair of a Type A interrupted aortic arch in an infant was in a 12-day-old infant in 1969, in which the left subclavian artery was connected to the descending thoracic aorta, the patent ductus arteriosus was closed, and the main pulmonary artery was banded. [8]

The first successful repair of a Type B interrupted aortic arch was in 1954, in which the 16 year-old, female patient's own aorta was grafted from the arch to the descending thoracic aorta and the left subclavian artery was ligated. [8] The first successful repair on a type B interrupted aortic arch in an infant was in 1973, in which a vein was used to connect the ascending aorta and the descending aorta. [8]

The first successful repair of a Type C interrupted aortic arch was in 1964, in which the 16-year-old female patient's ascending aorta was grafted to the descending thoracic aorta. [8] As of 1984, there had been no successful repairs on infants under one year old. [8]

The use of PGE1 dramatically improved the mortality rate after its introduction in 1976. [3]

Research directions

While PGE1 is the standard of care for maintaining the ductus arteriosus, there is insufficient data on the proper dose, duration of therapy, safety, and long-term consequences of PGE1 on infants with ductal-dependent congenital heart defects (like interrupted aortic arch). [14]

Related Research Articles

<span class="mw-page-title-main">Aorta</span> Largest artery in the human body

The aorta is the main and largest artery in the human body, originating from the left ventricle of the heart, branching upwards immediately after, and extending down to the abdomen, where it splits at the aortic bifurcation into two smaller arteries. The aorta distributes oxygenated blood to all parts of the body through the systemic circulation.

<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.

dextro-Transposition of the great arteries Medical condition

dextro-Transposition of the great arteries is a potentially life-threatening birth defect in the large arteries of the heart. The primary arteries are transposed.

<span class="mw-page-title-main">Ductus arteriosus</span> Blood vessel connecting the pulmonary artery to the proximal descending aorta

The ductus arteriosus, also called the ductus Botalli, named after the Italian physiologist Leonardo Botallo, is a blood vessel in the developing fetus connecting the trunk of the pulmonary artery to the proximal descending aorta. It allows most of the blood from the right ventricle to bypass the fetus's fluid-filled non-functioning lungs. Upon closure at birth, it becomes the ligamentum arteriosum.

<span class="mw-page-title-main">Coarctation of the aorta</span> Heart defect of an abnormally narrow aorta

Coarctation of the aorta (CoA) is a congenital condition whereby the aorta is narrow, usually in the area where the ductus arteriosus inserts. The word coarctation means "pressing or drawing together; narrowing". Coarctations are most common in the aortic arch. The arch may be small in babies with coarctations. Other heart defects may also occur when coarctation is present, typically occurring on the left side of the heart. When a patient has a coarctation, the left ventricle has to work harder. Since the aorta is narrowed, the left ventricle must generate a much higher pressure than normal in order to force enough blood through the aorta to deliver blood to the lower part of the body. If the narrowing is severe enough, the left ventricle may not be strong enough to push blood through the coarctation, thus resulting in a lack of blood to the lower half of the body. Physiologically its complete form is manifested as interrupted aortic arch.

<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">Transposition of the great vessels</span> Group of congenital heart defects

Transposition of the great vessels (TGV) is a group of congenital heart defects involving an abnormal spatial arrangement of any of the great vessels: superior and/or inferior venae cavae, pulmonary artery, pulmonary veins, and aorta. Congenital heart diseases involving only the primary arteries belong to a sub-group called transposition of the great arteries (TGA), which is considered the most common congenital heart lesion that presents in neonates.

<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">Tricuspid atresia</span> Malformation where the heart lacks the tricuspid valve

Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection. This leads to a hypoplastic (undersized) or absent right ventricle. This defect is contracted during prenatal development, when the heart does not finish developing. It causes the systemic circulation to be filled with relatively deoxygenated blood. The causes of tricuspid atresia are unknown.

The great arteries are the primary arteries that carry blood away from the heart, which include:

<span class="mw-page-title-main">Aortic arch</span> Part of the aorta

The aortic arch, arch of the aorta, or transverse aortic arch is the part of the aorta between the ascending and descending aorta. The arch travels backward, so that it ultimately runs to the left of the trachea.

<span class="mw-page-title-main">Arterial switch operation</span> Open heart surgical procedure

Arterial switch operation (ASO) or arterial switch, is an open heart surgical procedure used to correct dextro-transposition of the great arteries (d-TGA).

<span class="mw-page-title-main">Aortic arches</span>

The aortic arches or pharyngeal arch arteries are a series of six paired embryological vascular structures which give rise to the great arteries of the neck and head. They are ventral to the dorsal aorta and arise from the aortic sac.

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

Ortner's syndrome is a rare cardiovocal syndrome and refers to recurrent laryngeal nerve palsy from cardiovascular disease. It was first described by Norbert Ortner (1865–1935), an Austrian physician, in 1897.

<span class="mw-page-title-main">Subclavian steal syndrome</span> Medical condition

Subclavian steal syndrome (SSS), also called subclavian steal steno-occlusive disease, is a medical condition characterized by retrograde (reversed) blood flow in the vertebral artery or the internal thoracic artery. This reversal occurs due to proximal stenosis (narrowing) or occlusion of the subclavian artery.

<span class="mw-page-title-main">Endovascular aneurysm repair</span> Surgery used to treat abdominal aortic aneurysm

Endovascular aneurysm repair (EVAR) is a type of minimally-invasive endovascular surgery used to treat pathology of the aorta, most commonly an abdominal aortic aneurysm (AAA). When used to treat thoracic aortic disease, the procedure is then specifically termed TEVAR for "thoracic endovascular aortic/aneurysm repair." EVAR involves the placement of an expandable stent graft within the aorta to treat aortic disease without operating directly on the aorta. In 2003, EVAR surpassed open aortic surgery as the most common technique for repair of AAA, and in 2010, EVAR accounted for 78% of all intact AAA repair in the United States.

<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.

Double aortic arch is a relatively rare congenital cardiovascular malformation. DAA is an anomaly of the aortic arch in which two aortic arches form a complete vascular ring that can compress the trachea and/or esophagus. Most commonly there is a larger (dominant) right arch behind and a smaller (hypoplastic) left aortic arch in front of the trachea/esophagus. The two arches join to form the descending aorta which is usually on the left side. In some cases the end of the smaller left aortic arch closes and the vascular tissue becomes a fibrous cord. Although in these cases a complete ring of two patent aortic arches is not present, the term ‘vascular ring’ is the accepted generic term even in these anomalies.

<span class="mw-page-title-main">Open aortic surgery</span> Surgical technique

Open aortic surgery (OAS), also known as open aortic repair (OAR), describes a technique whereby an abdominal, thoracic or retroperitoneal surgical incision is used to visualize and control the aorta for purposes of treatment, usually by the replacement of the affected segment with a prosthetic graft. OAS is used to treat aneurysms of the abdominal and thoracic aorta, aortic dissection, acute aortic syndrome, and aortic ruptures. Aortobifemoral bypass is also used to treat atherosclerotic disease of the abdominal aorta below the level of the renal arteries. In 2003, OAS was surpassed by endovascular aneurysm repair (EVAR) as the most common technique for repairing abdominal aortic aneurysms in the United States.

The Yasui procedure is a pediatric heart operation used to bypass the left ventricular outflow tract (LVOT) that combines the aortic repair of the Norwood procedure and a shunt similar to that used in the Rastelli procedure in a single operation. It is used to repair defects that result in the physiology of hypoplastic left heart syndrome even though both ventricles are functioning normally. These defects are common in DiGeorge syndrome and include interrupted aortic arch and LVOT obstruction (IAA/LVOTO); aortic atresia-severe stenosis with ventricular septal defect (AA/VSD); and aortic atresia with interrupted aortic arch and aortopulmonary window. This procedure allows the surgeon to keep the left ventricle connected to the systemic circulation while using the pulmonary valve as its outflow valve, by connecting them through the ventricular septal defect. The Yasui procedure includes a modified Damus–Kaye–Stansel procedure to connect the aortic and pulmonary roots, allowing the coronary arteries to remain perfused. It was first described in 1987.

References

  1. 1 2 3 4 5 Messner, Greg; Reul, George J.; Flamm, Scott D.; Gregoric, Igor D.; Opfermann, Ulrich Tim (2002). "Interrupted aortic arch in an adult single-stage extra-anatomic repair". Texas Heart Institute Journal. 29 (2): 118–21. PMC   116738 . PMID   12075868.
  2. 1 2 3 4 5 6 7 8 Ramirez Alcantara, Jonanlis; Mendez, Magda D. (2020), "Interrupted Aortic Arch", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID   30422497 , retrieved 2021-01-05
  3. 1 2 3 4 5 6 7 8 9 10 11 Jonas, Richard (2013). "15". In Mavroudis, Constantine; Backer, Carl; Idriss, Richid (eds.). Pediatric Cardiac Surgery (4th ed.). Chichester: Wiley-Blackwell. pp. 283–294. ISBN   9781118320754.
  4. 1 2 3 Chin, Alvin J (Oct 2, 2007). "Interrupted Aortic Arch". eMedicine . Retrieved May 27, 2009.
  5. 1 2 3 4 5 6 7 "Interrupted Aortic Arch | Types, Treatment & Repair". www.cincinnatichildrens.org. Cincinnati Children's Hospital Medical Center. July 2015. Retrieved 28 April 2018.
  6. 1 2 Börcek, Alp Özgün; Egemen, Emrah; Güngör, Günhan; Baykaner, Mustafa Kemali (6 November 2012). "Intracranial aneurysm in childhood and interrupted aortic arch". Child's Nervous System. 29 (1): 11–15. doi:10.1007/s00381-012-1959-6. PMID   23129447. S2CID   26048319.
  7. ↑ Blake, Kim D.; Davenport, Sandra L. H.; Hall, Bryan D.; Hefner, Margaret A.; Pagon, Roberta A.; Williams, Marc S.; Lin, Angela E.; Graham, John M. (2 July 2016). "CHARGE Association: An Update and Review for the Primary Pediatrician". Clinical Pediatrics. 37 (3): 159–173. doi:10.1177/000992289803700302. PMID   9545604. S2CID   38750156.
  8. 1 2 3 4 5 6 7 8 9 10 11 Reardon, MJ; Hallman, GL; Cooley, DA (September 1984). "Interrupted aortic arch: brief review and summary of an eighteen-year experience". Texas Heart Institute Journal. 11 (3): 250–9. PMC   341721 . PMID   15227058.
  9. ↑ Sharma, Mukti; Sasikumar, M; Karloopia, SD; Shahi, BN (April 2001). "Prostaglandins in congenital heart disease". Medical Journal Armed Forces India . 57 (2): 134–138. doi:10.1016/S0377-1237(01)80134-9. PMC   4925861 . PMID   27407318.
  10. ↑ Yasui, Hisataka; Kado, Hideaki; Yonenaga, Kunihiro; Kawasaki, Shihori; Shiokawa, Yuichi; Kouno, Hiroaki; Tominaga, Ryuji; Kawachi, Yoshito; Tokunaga, Kouichi (May 1993). "Revised Technique of Cardiopulmonary Bypass in One-Stage Repair of Interrupted Aortic Arch Complex". The Annals of Thoracic Surgery. 55: 1166–1171. doi:10.1016/0003-4975(93)90026-e.
  11. ↑ "Interrupted Aortic Arch". www.mottchildren.org. University of Michigan. Retrieved 28 April 2018.
  12. ↑ "Interrupted Aortic Arch". Cleveland Clinic. Cleveland Clinic. Retrieved 28 April 2018.
  13. 1 2 3 Lie, J.T. (May 1967). "The malformation complex of the absence of the arch of the aorta-Steidele's complex". American Heart Journal. 73 (5): 615–625. doi:10.1016/0002-8703(67)90171-8. PMID   6024217.
  14. ↑ Akkinapally, Smita; Hundalani, Shilpa G; Kulkarni, Madhulika; Fernandes, Caraciolo J; Cabrera, Antonio G; Shivanna, Binoy; Pammi, Mohan (27 February 2018). "Prostaglandin E1 for maintaining ductal patency in neonates with ductal-dependent cardiac lesions". Cochrane Database of Systematic Reviews. 2 (2): CD011417. doi:10.1002/14651858.CD011417.pub2. PMC   6491149 . PMID   29486048.

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