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13 March 2020 : Case report  Bulgaria

Management of Late-Presenting Congenital Combined Heart Defect – Bicuspid Aortic Valve and Ventricular Septal Aneurysm

Challenging differential diagnosis, Rare disease

Violeta V. Groudeva1ABCEF*, Borislav G. Atzev2ABCEFG, Dimitar G. Petkov3ABC

DOI: 10.12659/AJCR.919766

Am J Case Rep 2020; 21:e919766


BACKGROUND: Bicuspid aortic valve is the most common congenital heart malformation, encountered in 1–2% of the population, while interventricular septal defect and patent ductus arteriosus are the most common congenital malformations associated with bicuspid aortic valve. Although bicuspid valve can have no clinical manifestation, patients with bicuspid valve are prone to develop vascular abnormalities. Aortic dilatation is the most common of these abnormalities, which in turn can lead to serious complications and often requires surgical treatment. Coexistence of bicuspid aortic valve and interventricular septal aneurysm is very extremely rare.

CASE REPORT: We present a very rare case of a female patient with combined congenital cardiac pathology. The patient was asymptomatic until age 68 years, and presented with nonspecific persistent cough. The diagnostic work-up for the unexplained cough showed normal function of the bicuspid valve and an ascending aorta aneurysm accompanied with interventricular septal aneurysm. The patient was referred for surgery. The diagnostic work-up and the decision for surgical treatment were thoroughly discussed to determine whether it was a true or a false aneurysm.

CONCLUSIONS: The presented case is an example of late diagnosis of a congenital cardiac defect. The silent evolution and the scarce clinical presentation led to incidental discovery of the pathology, which was fully assessed only by computed tomography. Although echocardiography is essential for discovering heart defects, non-invasive imaging techniques are required for detailed morphological assessment and for planning optimal surgical treatment.

Keywords: Bicuspid, Heart Aneurysm, Heart Defects, Congenital, Heart Septal Defects, Ventricular, Imaging, Three-Dimensional, aortic aneurysm, Aortic Valve, Bicuspid Aortic Valve Disease, computed tomography angiography, Echocardiography, Heart Valve Diseases, Incidental Findings, Late Onset Disorders

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923