Congenital combined atresia of the left main coronary with supravalvar aortic stenosis

Sabzi, Feridoun; Heidari, Aghighe; Faraji, Reza

doi:10.4103/aca.aca_217_17

Cited by 4 publications

(2 citation statements)

References 13 publications

(12 reference statements)

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“… 1 This condition often coexists with supra- and subvalvular aortic stenosis or other congenital cardiac defects. 5 , 6 Usually patients develop symptoms during infancy, childhood, or adolescence, while, in adulthood, LMCA is very rarely reported and, when described, represents an incidental finding. 2 , 7 When symptoms are present, CABG was the historically recommended treatment, although, in more recent years, surgical coronary repair is increasingly being used.…”

Section: Discussionmentioning

confidence: 99%

Incidental finding and conservative management of left main coronary atresia in an adult patient: a case report

Talanas

Corda

Parodi

et al. 2021

European Heart Journal - Case Reports

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Background Left main (LM) coronary atresia (LMCA) is a rare coronary anomaly where the LM is congenitally absent and a variable clinical spectrum can follow. The diagnosis of LMCA is generally made in youth because of the development of symptoms, but very rarely in adulthood. In symptomatic patients, surgical revascularization is recommended, whereas, in asymptomatic patients with LMCA and without inducible myocardial ischaemia, preventive surgical treatment is controversial. Case summary A 58-year-old male patient with aortic ectasia detected during an echocardiogram performed to evaluate a hypertension-related preclinical cardiac damage and, due to this finding, an echocardiographic follow-up was suggested. Three years later, he was admitted to undergo coronary angiography (CA) after the computed tomography finding of a suspected occlusion of the LM with collateral circulation from right coronary artery (RCA) to left anterior descending and circumflex arteries. CA confirmed an LMCA and the RCA provided blood supply to the left coronary artery through collaterals whose calibre was similar to that of the target left-sided vessels. No obstructive coronary artery disease was detected. In order to detect potential myocardial ischaemia, a technetium-tetrofosmin cardiac single-photon emission computed tomography during maximal exercise-stress test was performed and it did not show a perfusion defect. Medical management with scheduled follow-up visits was deemed to be the best therapeutic option. Discussion LMCA is a rare anomaly where LM is absent and the RCA provides collateral circulation for left coronary artery. In asymptomatic patients, preventive surgical treatment is controversial.

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Section: Discussionmentioning

confidence: 99%

Incidental finding and conservative management of left main coronary atresia in an adult patient: a case report

Talanas

Corda

Parodi

et al. 2021

European Heart Journal - Case Reports

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“…Supravalvar aortic stenosis (SVAS) is a congenital anomaly consisting of narrowing of the sinotubular junction or ascending aorta. 1 , 2 , 3 , 4 Approximately 33% to 84% of patients with SVAS are reported to have a diagnosis of Williams‐Beuren syndrome (WS), a contiguous gene deletion syndrome affecting chromosomal region 7q11.23, including the ELN gene. 4 , 5 , 6 , 7 The deletion of the ELN gene, which encodes the elastin protein, is the cause of SVAS and other arterial abnormalities in WS.…”

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confidence: 99%

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

Stephens,

Novy,

Spurzem

et al. 2024

JAHA

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Background We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). Methods and Results This retrospective cohort study included patients with SVAS at our institution who had a negative evaluation for WS from May 1991 to September 2021. SVAS was defined as (1) peak supravalvar velocity of ≥2 meters/second, (2) sinotubular junction or ascending aortic Z score <−2.0, or (3) sinotubular junction Z score <−1.5 with family history of SVAS. Patients with complex congenital heart disease, aortic valve disease as the primary condition, or only postoperative SVAS were excluded. Genetic testing and diagnoses were reported. Of 162 patients who were WS negative meeting inclusion criteria, 61 had genetic testing results available (38%). Chromosomal microarray had been performed in 44 of 61 and was nondiagnostic for non‐WS causes of SVAS. Sequencing of 1 or more genes was performed in 47 of 61. Of these, 39 of 47 underwent ELN sequencing, 20 of 39 (51%) of whom had a diagnostic variant. Other diagnoses made by gene sequencing were Noonan syndrome (3 PTPN11 , 1 RIT1) , Alagille syndrome (3 JAG1 ), neurofibromatosis (1 NF1 ), and homozygous familial hypercholesterolemia (1 LDLR1 ). Overall, sequencing was diagnostic in 29 of 47 (62%). Conclusions When WS is excluded, gene sequencing for SVAS is high yield, with the highest yield for the ELN gene. Therefore, we recommend gene sequencing using a multigene panel or exome analysis. Hypercholesterolemia can also be considered in individuals bearing the stigmata of this disease.

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A case series of left main coronary artery ostial atresia and a review of the literature

Alsalehi

Jeewa

Wan

et al. 2019

Congenital Heart Disease

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Congenital combined atresia of the left main coronary with supravalvar aortic stenosis

Cited by 4 publications

References 13 publications

Incidental finding and conservative management of left main coronary atresia in an adult patient: a case report

Incidental finding and conservative management of left main coronary atresia in an adult patient: a case report

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

A case series of left main coronary artery ostial atresia and a review of the literature

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