|Year : 2020 | Volume
| Issue : 4 | Page : 103-106
A Case Report of the Shone Syndrome in Association with Coronary Abnormality
Shahin Rahimi1, Ata Firouzi2, Iman Harirforoosh1, Mohammad Esmaeel Zangenehfar1, Zahra Khajali1
1 Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
2 Cardiovascular Intervention Research Center, Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Science, Tehran, Iran
|Date of Submission||13-Aug-2020|
|Date of Decision||28-Aug-2020|
|Date of Acceptance||03-Sep-2020|
|Date of Web Publication||24-Dec-2020|
Dr. Zahra Khajali
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, Tehran
Source of Support: None, Conflict of Interest: None
Shone syndrome or complex is defined by sequential left-sided heart stenosis, including supravalvular mitral membrane, valvular mitral stenosis (MS) by a parachute mitral valve, subaortic stenosis, and aortic coarctation. It is a rare entity which occurs most frequently in its incomplete form, a 31-year-old man who referred to our adult congenital clinic with a chief complaint of recent chest discomfort. He had a history of hypertension since last year. Echocardiography revealed congenital severe MS (parachute-like mitral valve), two papillary muscles with decreased space between them and underdeveloped lateral papillary muscle. Other findings of echocardiography were bicuspid aortic valve (fusion of the right coronary cusp [RCC] and left coronary cusp) with moderate-to-severe aortic stenosis (AS) and moderate eccentric aortic insufficiency. Deformed aortic arch (gothic arch) and aortic coarctation were also reported in transthoracic echocardiography. We also found an abnormal vessel like density in 5-chamber view that suggested bleb sign and retroaortic course of the left circumflex (LCX). The patient was scheduled for coronary angiography and intervention for coarctation of the aorta, which revealed an abnormally originated LCX from RCC, significant coarctation of the aorta, and significant AS. Aortic coarctoplasty with CP STENT 8 × 39 mounted on balloon Altosa-XL-Gemini 26 × 40 was done in this session. Shone complex is a rare anomaly that may need multiple procedures for correction. Echocardiography is a specially important modality in these patients for diagnosis and evaluation of severity. By this modality, even we can diagnose some coronary artery origin abnormality.
Keywords: Coarctation of the aorta, coronary abnormality, parachute mitral valve, Shone syndrome
|How to cite this article:|
Rahimi S, Firouzi A, Harirforoosh I, Zangenehfar ME, Khajali Z. A Case Report of the Shone Syndrome in Association with Coronary Abnormality. Res Cardiovasc Med 2020;9:103-6
|How to cite this URL:|
Rahimi S, Firouzi A, Harirforoosh I, Zangenehfar ME, Khajali Z. A Case Report of the Shone Syndrome in Association with Coronary Abnormality. Res Cardiovasc Med [serial online] 2020 [cited 2021 Apr 22];9:103-6. Available from: https://www.rcvmonline.com/text.asp?2020/9/4/103/304783
| Introduction|| |
Shone syndrome or complex is a very uncommon congenital disorder which is defined as the consistence of four obstructive or potentially obstructive left-sided lesions, including supravalvular mitral ring, parachute deformity of the mitral valve, subaortic stenosis, and coarctation of the aorta. When all four lesions are present, it is the complete form of Shone syndrome. However, when <4 of the lesions are present, it is considered the incomplete form.,,,,, In this paper, we present a case of Shone syndrome in association with abnormally originated left circumflex (LCX).
| Case Report|| |
A 31-year-old man who was a known case of aortic coarctation referred to the adult congenital clinic with a chief complaint of recurrent chest discomfort. He also suffered from hypertension in the past year. In physical examination, positive points were discrepancy in blood pressure in both upper extremities and lower extremities, and also a loud crescendo-decrescendo 3/6 systolic and crescendo-decrescendo 2/6 mid-diastolic murmurs, which were compatible with patient's history of aortic coarctation [Figure 1] and moderate-to-severe aortic stenosis (AS) plus severe congenital MS, respectively.
From the laboratory examination, complete blood count was in normal limits. Echocardiography revealed severe congenital MS (parachute-like mitral valve) and two papillary muscles with decreased space between them and underdeveloped lateral papillary muscle [Figure 2]. The other findings of echocardiography were bicuspid aortic valve (fusion of the right coronary cusp [RCC] and left coronary cusp) [Figure 3] with moderate-to-severe AS [Figure 4] and moderate eccentric aortic insufficiency. Deformed aortic arch (Gothic arch) and aortic coarctation were also reported in transthoracic echocardiography (TTE). Retroaortic coronary artery (LCX) was also evident in echocardiography; Cx seemed to cross the aorta perpendicularly to the aortic long-axis, suggesting a retroaortic course [Figure 5] as previously described by Wierzbowska et al. This is a new type of echocardiographic sign, which helps to detect the retroaortic coursing of Cx. In this case, the use of the TEE technique was not necessary since the abnormal course of the Cx was already well detectable by TTE [Figure 6].
|Figure 2: Underdeveloped anterolateral papillary muscle, which was seen in the parachute-like abnormality of the mitral valve|
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|Figure 3: Bicuspid aortic valve (fusion of the right coronary cusp and left coronary cusp)|
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|Figure 4: Moderate-to-severe aortic stenosis, as shown in the continuous wave doppler echocardiography|
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|Figure 5: Abnormally originated left circumflex from the right coronary cusp|
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|Figure 6: Retroaortic coronary artery left circumflex in five chamber view of the echocardiography (crossed aortic sign)|
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We scheduled the patient for coronary angiography and interventional coarctoplasty, which revealed an abnormally originated LCX from the RCC [Figure 5]. Aortic coarctoplasty with stent CP 8 × 39 mounted on balloon Altosa-XL-Gemini 26 × 40 was also done in this session [Figure 7].
|Figure 7: Coarctoplasty in our patient through balloon Altosa-XL-Gemini 26 × 40 and also stenting through CP STENT 8 × 39|
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| Discussion|| |
The Shone complex is defined by four cardiovascular defects, including supravalvular mitral membrane, valvular mitral stenosis (MS) by a parachute mitral valve, subaortic stenosis, and aortic coarctation. Some of the cases may have a degree of the left ventricular (LV) hypoplasia, which can contribute to their morbidity and mortality.,,,, The Shone complex, which occurs most frequently in its incomplete form,, was initially described in 1963 by Shone et al. The prevalence of this syndrome is 0.6% of all cardiac malformations with a male: female ratio of 1.5:1., Patients with Shone syndrome have a poor long-term prognosis and often require multiple interventions in the early months of life. In their first description of the syndrome, Shone et al. noted that mitral valve obstruction appeared to be the most critical lesion. Patients with the most severe forms of mitral obstruction presented with severely elevated pulmonary artery pressure and had the worst prognosis.
Mitral valve repair, along with resection of the supramitral ring, is preferable over valve replacement, and it should be done before elevated pulmonary artery pressure. Other surgical procedures depend on the existence of associated cardiac anomalies, which can determine late surgical outcome.,
The usual presentation is dyspnea, nocturnal cough, tachypnea, poor feeding, failure to thrive, fatigue, signs, and symptoms of heart failure, along with reduced cardiac output. It is extremely unusual for a patient to remain completely asymptomatic throughout childhood and get incidentally detected during adulthood.
The supravalvar mitral ring is a circumferential ridge or membrane that arises from the left atrial wall overlying the mitral valve and is frequently attached to the mitral valve. This ring may range from a thin membrane to a thick discrete fibrous ridge. It may vary in its extent. Adhesion to the valve may impair the opening of the leaflets resulting in mitral valve inflow obstruction in some patients. In other patients, the ring may be large and protrude into the mitral valve inflow, thus causing an obstruction.,,, Parachute mitral valve is a severe form of congenital mitral valve stenosis. In this anomaly, the chordae tendineae are thickened and shortened, and they attach to a single posteriorly located papillary muscle, producing severe MS. The anterior papillary muscle is usually absent. The unifocal attachment of the chordae results in a restricted valve opening, subvalvular obstruction, and, rarely, valvular regurgitation. The diagnosis can be suspected by two-dimensional echo on the parasternal views. In the parasternal short-axis (PSAX) view of TTE, only one papillary muscle is visible.,, The first pathological event in Shone's complex is mitral valve obstruction in the early embryogenesis period which is considered, causing underdevelopment of the LV cavity, thus leading to various degrees of LV outflow tract obstruction and aortic coarctation.
In patients with aortic coarctation, the partial disappearance of elastic tissue at the level of aortic media seems to be an important feature. About 20%–59% of mitral valve anomalous cases have concurrent aortic coarctation, whereas the mitral supravalvular ring is associated with other defects in almost 90% of cases. Therefore, the finding of these defects should prompt search of other cardiac and vascular anomalies.
The anomalous origin of the LCX from the proximal respiratory syncytial virus was described for the first time in 1933. LCX and right coronary sinus can arise from a common ostium or separated ostium. Usually, LCX courses posterior to the aorta and provides branches to the LV lateral wall. In our case, we first found the anomalous originated LCX from RCV in the PSAX view of the echocardiography and by this clue, scheduled the patient for coronary angiography, and fined the main course of the LCX.
The Shone' syndrome itself is a rare congenital syndrome, and there are little case reports of coexistence of this anomaly with other cardiac anomalies such as bicuspid aortic valve or aneurysm of the sinus of Valsalva, patent ductus arteriosus, ventricular septal defect, persistent left superior vena cava opening into the coronary sinus, and severe pulmonary artery hypertension. However, what is very rare, and we think that it can be the first report, is the constellation of Shone's syndrome with coronary anomalies, specially LCX origination from RCC. This case report raises awareness of this rare syndrome and highlights the importance of a carefully performed echocardiogram, particularly in patients with congenital heart disease where lesions often coexist and can be missed in the absence of a comprehensive examination. It also points to other associated abnormalities in the cardiovascular system, namely abnormally originated coronary arteries, which can explain part of the patient's symptoms.
The study was approved by the Ethics Committee of the Research Deputyship in Rajaie Cardiovascular Medical and Research Center (ID: IR.RHC.REC.1399.060).
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initial will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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