Combination of familial Barlow’s disease with bilateral axillary artery aneurysms in two brothers

• Published in: General thoracic and cardiovascular surgery Vol. 60; no. 2; pp. 115 - 117
• Main Authors: Kasahara, Hirofumi, Kudo, Mikihiko, Yozu, Ryohei, Hosoda, Susumu, Shiikawa, Akira
• Format: Journal Article
• Language: English
• Published: Japan Springer Japan 01.02.2012; Springer Nature B.V
• Subjects: Adult; Aneurysm - diagnostic imaging; Aneurysm - genetics; Aneurysm - surgery; Axillary Artery - diagnostic imaging; Axillary Artery - surgery; Blood Vessel Prosthesis Implantation; Cardiac Surgery; Cardiology; Case Report; Connective Tissue Diseases - complications; Connective Tissue Diseases - genetics; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - surgery; Genetic Predisposition to Disease; Heart Valve Prosthesis Implantation; Heredity; Humans; Male; Medicine; Medicine & Public Health; Mitral Valve Annuloplasty; Mitral Valve Prolapse - genetics; Mitral Valve Prolapse - surgery; Phenotype; Radiography; Recurrence; Siblings; Surgical Oncology; Thoracic Surgery; Treatment Outcome; Connective tissue disorder; Bilateral axillary artery aneurysms; Recurrent mitral regurgitation; Barlow’s disease
• ISSN: 1863-6705; 1863-6713
• DOI: 10.1007/s11748-011-0787-z

We encountered two brothers with a combination of Barlow’s disease and bilateral axillary artery aneurysms who were operated on during their third decade of life. A symmetrical form of true bilateral axillary artery aneurysms is uncommon. Recurrent mitral regurgitation was presented in the older brother with an endocardial defect in the left atrium, suggesting connective tissue fragility. A hereditary connective tissue disorder was strongly suspected because of the similar presentation and an unusual cluster of pathologies in siblings. Careful follow-up is required to detect recurrence of mitral regurgitation or aneurysm formation in other vessels.