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An atrial septal aneurysm with an organized thrombus in an asymptomatic patient: A case report.

ABSTRACT: INTRODUCTION:An atrial septal aneurysm (ASA) is a rare congenital cardiac deformity characterized by interatrial septum protruding into atria forming a saccular structure. PATIENT CONCERNS:In our case, a 42-year-old female patient presented to our hospital complained of palpitation. DIAGNOSIS:Transthoracic echocardiography detected a 3.4 × 3.4?cm circular mass attached to the interatrial septum in right atrium complicated with a 6?mm secundum atrial septal defects (ASD). INTERVENTIONS:The patient received a cardiopulmonary bypass surgery to remove the mass and close the ASD. OUTCOMES:The mass turned out to be an organized thrombus with calcium deposition and fibrinoid necrosis. CONCLUSION:ASA is a potential location of atrial thrombus because of the stagnation of blood. Systemic embolism events are the main complications of ASA. Surgery or anticoagulation is both recommended in patients with ASA with thrombus.

SUBMITTER: Wang X

PROVIDER: S-EPMC6890302 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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An atrial septal aneurysm with an organized thrombus in an asymptomatic patient: A case report.

Wang Xinxin X Wang Chunguo C Ma Dehua D Jin Jiang J Zhang Bo B Zhu Chengchu C Chen Baofu B

Medicine 20191101 48

<h4>Introduction</h4>An atrial septal aneurysm (ASA) is a rare congenital cardiac deformity characterized by interatrial septum protruding into atria forming a saccular structure.<h4>Patient concerns</h4>In our case, a 42-year-old female patient presented to our hospital complained of palpitation.<h4>Diagnosis</h4>Transthoracic echocardiography detected a 3.4 × 3.4 cm circular mass attached to the interatrial septum in right atrium complicated with a 6 mm secundum atrial septal defects (ASD).<h4 ...[more]

PMID: 31770224

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Project description:Atrial septal defect often become more severe when encountered in genetic syndromes. Congenital disorder of glycosylation type 1a is an inherited metabolic disorder associated with mutations in PMM2 gene and can affect almost all organs. Cardiac abnormalities vary greatly in congenital disorder of glycosylation type 1a and congenital heart defects have already been reported, but there is little knowledge about the effect of this inherited disorder on an existing congenital heart defect. Herein we report for the first time on a baby with congenital disorder of glycosylation type 1a with atrial septal defect and make a comparison of changes in atrial septal defect by follow-ups to the age of 3.Our patient was an 8-month-old Han Chinese boy. At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy. Echocardiography revealed a 8 mm secundum atrial septal defect with left-to-right shunt (Qp/Qs ratio 1.6). Enzyme testing of phosphomannomutase 2 demonstrated decreased levels of phosphomannomutase 2 activities in fibroblasts. Whole exon sequencing showed he was heterozygous for a frameshift mutation (p.I153X) and a missense mutation (p.I132T) in PMM2 gene. The diagnosis of congenital disorder of glycosylation type 1a with atrial septal defect was issued. Now, he is 3-years old at the time of this writing, with the development of congenital disorder of glycosylation type 1a (cerebellar atrophy become more severe and the symptom of nystagmus emerged), the size of atrial septal defect increased to 10 mm and the Qp/Qs ratio increased to 1.9, which suggested exacerbation of the atrial septal defect. Congenital heart defect-associated gene sequencing is then performed and shows there are no pathogenic mutations, which suggested intrinsic cardiac factors are not the cause of exacerbation of the atrial septal defect in our patient and it is reasonable to assume congenital disorder of glycosylation type 1a can worsen the situation of the existing atrial septal defect.This report highlights the view that congenital disorders of glycosylation type 1a should be excluded when faced with congenital heart defect with cerebellar atrophy or neurodevelopmental delay, especially when the situation of congenital heart defect becomes more and more severe.

Dataset Information

An atrial septal aneurysm with an organized thrombus in an asymptomatic patient: A case report.

Publications

An atrial septal aneurysm with an organized thrombus in an asymptomatic patient: A case report.

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