Marfan syndrome
Turner syndrome
Bicuspid aortic valve
Coarctation of the aorta
Tetralogy of Fallot
Single ventricle with pulmonary atresia or stenosis
Persistent truncus arteriosus
Transposition of the great arteries
Hypoplastic left heart syndrome
Post-Fontan procedure
This review deals with the aortic manifestations of congenital heart disease, such as dilatation, aneurysm, and dissection, with specific consideration of the history and importance of new clinical entity “aortopathy” [7, 8].
1.2 Historical Perspective (Table 1.2)
Bicuspid aortic valve is the most common gross morphologic congenital abnormality of the heart and great vessels in adults.
Table 1.2
Historical overview
Year | Topics | Author | Refs. |
|---|---|---|---|
1513 | Illustration of BAV | Leonardo da Vinci | [9] |
1928 | “The presence of a BAV appears to indicate, at least in a portion of the cases in which it occurs, a tendency for spontaneous rupture.” | Maude Abbott | [9] |
1928 | Medionecrosis | Gsell O | [3] |
1928 | Aortic rupture in BAV and coarctation of the aorta | Abbott ME | [3] |
1930 | Medionecrosis aortae idiopathica cystica | Erdheim J | [10] |
1957 | Aortic valve disease and CMN | McKusick VA | [11] |
1972 | BAV and Erdheim’s cystic medial necrosis | McKusick VA | [3] |
1978 | BAV and aortic dissection | [12] | |
1987 | Coarctation of the aorta and CMS | Isner JM | [19] |
2000 | TGA and impaired aortic distensibility | Murakami T | [51] |
2001 | CMS in various CHDs | Niwa K | [1] |
2002 | Progressive aortic dilatation in TOF | Niwa K | [49] |
2003 | HLHS and neo-aortic dilatation | Cohen MS | [29] |
2004 | TGA and aortic dilatation, AR | Schwartz M | [28] |
2005 | Aortopathy and TOF | Niwa K | [24] |
2008 | Arterial hemodynamics influence LV | Senzaki H | [5] |
2009 | Fontan and dissection | Egan M | [36] |
The well-known artist, Leonardo da Vinci, illustrated that anomaly firstly in 1513 in his remarkable Anatomical, Physiological, and Embryological Drawings [9]. In 1928, Maude Abbott, Montreal [9], mentioned in her textbook of congenital heart disease that the presence of a bicuspid aortic valve appears to indicate, at least in a portion of the cases in which it occurs, a tendency for spontaneous rupture.”
The association of a congenital bicuspid aortic valve with coarctation of the aorta is also well recognized. Abbott [3] found a bicuspid aortic valve in 47 of 200 cases of coarctation.
In 1930, Erdheim referred to medionecrosis aortae idiopathica cystica, and cystic medial necrosis was defined as [10]:
An association between aortic valve disease and cystic medial necrosis of the aorta was pointed out in 1957 [11] and often documented after that. It was suggested that the valve disease places unusual hemodynamic stress on the aortic wall, leading to structural fatigue, expressed as congenital heart disease [3] and/or “inborn” congenital weakness [3].
Noninflammatory smooth muscle cell loss
Fragmentation of elastic fibers
Accumulation of basophilic ground substance within cell-depleted areas of the medial layer of the vessel wall
In 1972, maKusick (3) reported a man and his son with a bicuspid aortic valve with aortic regurgitation without phenotype of Marfan syndrome. Intraoperatively “cystic medial necrosis” in aortic media was found, and they reported that the association of bicuspid aortic valve and “cystic medial necrosis” is more than a coincidence.
In 1978, Edwards et al. [12] reported that among 119 necropsy specimens from aortic dissection, 11 had occurred in patients with bicuspid aortic valve (9 %). Roberts et al. [2] also reported that among 186 necropsy specimens with aortic dissection, 14 were from bicuspid aortic valve (7.5 %) with a mean age of 52 and severe degeneration of the elastic fiber was found in the aortic wall in 90 % of them. High incidence of bicuspid aortic valve among patients with aortic dissection is suggesting a causative relationship between bicuspid aortic valve and aortic dissecting aneurysm.
In 1990s, Harn et al. [13] and Nistri et al. [14] reported a high prevalence of aortic root enlargement in bicuspid aortic valves that occurs irrespective of altered hemodynamics, aortic valve stenosis, and regurgitation, suggesting that bicuspid aortic valve and aortic root dilatation may reflect a common developmental defect. It has been recognized that patients with aortic valve harbor cystic medial necrosis in the aortic media, and the aortic root has a tendency to dilate, sometimes followed by aortic dissection. Bicuspid aortic valve was the first non-syndromic congenital heart anomaly in which aortic dilation and dissection were reported [15].
In 2001, Niwa and Perloff et al. [1] reported for the first time that aortic medial abnormalities – so-called cystic medial necrosis – are prevalent in a wide variety of congenital heart disease with dilated aortic root, other than bicuspid aortic valve or coarctation of the aorta.
1.3 Congenital Heart Diseases associated with Aortic Dilatation (Table 1.1)
1.3.1 Bicuspid Aortic Valve and Ross Procedure
Aortic dissection is found to be 9–18 times more prevalent in patients with bicuspid aortic valve than in those with tricuspid aortic valve [30]. Aortic dilation begins during childhood in patients with bicuspid aortic valve, regardless of the presence of aortic stenosis [31]. Histologic abnormalities in the ascending aorta in patients with bicuspid aortic valve are similar to those found in Marfan patients [3].
After Ross procedure, in 118 patients (bicuspid aortic valve in 81 %) with age of 34 years and 44 months of follow-up, the diameter of the sinuses of Valsalva increased from 31 +/− 0.4 to 33 +/− 0.5 mm [16]. In 13 (11 %) with the ascending aortic diameter ranged from 40 to 51 mm, 7 (6 %) developed moderate aortic regurgitation, and 3 (3 %) required aortic valve replacement. The predicted probability of no or trivial aortic regurgitation decreased from 63 % in the early postoperative period to 24 % after 16 years.
The most common cause for a failing Ross is pulmonary autograft dilation [18], occurring because of an intrinsic abnormality of the pulmonary root in congenital aortic valve disease.
1.3.2 Coarctation of the Aorta
Isner et al. [19] in 1987 described the light microscopic features of the coarctation segment in 33 patients aging 1 day to 15 years and found cystic medial necrosis, deletion, and disarray of elastic tissue in all 33 specimens. Remarkably, these findings are already observed in neonates, suggesting that cystic medial necrosis in the aortic wall in coarctation of the aorta is possibly intrinsic. The mentioned cystic medial necrosis may represent the pathologic basis for the aneurysm formation observed after balloon angioplasty of coarctation.
As coarctation of the aorta is often accompanied by a bicuspid aortic valve [9], this disorder harbors the risk of medial abnormalities not only at paracoarctation site but also in the ascending aorta.
1.3.3 Aortic Dilatation of Tetralogy of Fallot
Enlarged aorta is one of the specific anatomical features of tetralogy of Fallot that is observed even during fetus. Among the cyanotic congenital heart anomalies, tetralogy of Fallot was the first in which significant aortic dilation was recognized in 1960s–1970s [20, 21].
Aortic dilatation is a well-known feature of unrepaired tetralogy of Fallot and correlates well with severity of right ventricular outflow tract stenosis and is greatest in pulmonary atresia and ventricular septal defect. Aortic regurgitation in unrepaired adult tetralogy of Fallot is often observed, and it imposes volume overload on both ventricles [22].
A significant subset of adults late after repair of tetralogy of Fallot exhibits progressive aortic root dilatation that may lead to aortic regurgitation and predispose to dissection and rupture. The aortic dilatation relates medial abnormalities coupled with previous long-standing volume overload of the ascending aorta. Such a dilatation and histological abnormalities have been found from fetus life to childhood [23]. Fifteen percent of repaired tetralogy of Fallot had a dilated aortic root in adulthood [24].
1.3.4 Neo-aortic Dilation After Arterial Switch Operation in Complete Transposition of the Great Artery
In 2000s, aortic dilation and aortic regurgitation became known complications after arterial switch operation in complete transposition of the great artery [25, 26]. The freedom from aortic regurgitation was 78 % at 10 years and 69 % at 15 years, and the freedom from aortic valve replacement was 98 % at 10 years and 97 % at 15 years [25]. Severe neo-aortic valve regurgitation was present in only 3.7 %, and trivial to mild regurgitation in 81 % of patients at midterm follow-up [26]. Cystic medial necrosis is observed after arterial switch operation in both neo-aorta and pulmonary artery (20 %) in neonate. Therefore, in transposition of the great arteries, histologic aortic abnormalities are, along with the operative technique, one of the causes of this aortic dilatation after repair [27]. Progressive dilation of the neo-aortic root is out of proportion to somatic growth, and the incidence of aortic regurgitation increases with the duration of follow-up. During a long-term follow-up, aortic regurgitation will possibly increase with age. Previous pulmonary artery banding is a risk factor for aortic dilation, while older age at arterial switch operation and presence of ventricular septal defect are other risk factors for aortic regurgitation [28].
1.3.5 Hypoplastic Left Heart Syndrome
Neo-aortic root dilation and aortic regurgitation after staged reconstruction for hypoplastic left heart syndrome are known complications, progressing over time. In 2003, Cohen et al. [29] reported on a 9-year follow-up of 53 patients with hypoplastic left heart syndrome after Fontan procedure. They found the neo-aortic root progressively dilated out of proportion to body size, with 98 % having a Z-score >2 at most recent follow-up. Neo-aortic regurgitation was present in 61 %. In general, mild pulmonary regurgitation can physiologically be seen in normal subjects, while any degree of aortic regurgitation is considered abnormal [34]. Therefore, a different texture of the arterial wall may be one of the causes of regurgitation.
1.3.6 Persistent Truncus Arteriosus
A dilated aortic root is found in the majority of operated patients with truncus arteriosus, but none of them had aortic dissection or rupture [35]. Although, in this disorder, the anatomical truncal valve is commonly abnormal and regurgitant, the role of dilatation of the aorta on truncal valve regurgitation is unclear.
1.3.7 Fontan and Cyanotic Congenital Heart Disease with Pulmonary Stenosis/Atresia
The incidence of aortic dissection in congenital heart disease other than bicuspid aortic valve and coarctation of the aorta is extremely rare [8].
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