Abstract 18260: Familial Beals- Hecht Syndrome associated with bicuspid aortic valve and right ventricular apical diverticulum. An unusual combination of congenital defects diagnosed in adulthood by multimodality imaging


Aurora St. Luke's Medical Center


Introduction: Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder. CCA is phenotypically similar to Marfan syndrome, typically not affecting the aorta or eyes. Right ventricle (RV) diverticulum with bicuspid aortic valve (BAV) and CCA is not described.

Case: 48 year-old caucasian female: cardiac apical aneurysm, scoliosis, BAV, and diagnosis of CCA. CCA affected her mother, brother, and daughter.

PE: 5’ 7", 128 pounds, scoliosis, arachnodactyly, wing span of 69”, Ghent Nosology score 5. Cardiac exam: unremarkable. CT chest: contrast: a 2.7 x 2.2 cm arterially enhancing thin-walled lobular structure at the cardiac apex communicating with RV. Echo: RV apical pouch: 2.2 x 1.7 cm, narrow neck - mild systolic expansion. RV size, function and strain: normal. BAV with trace AR. Ascending aorta: 3.5 cm. LVEF 73%. Cardiac MRI: 2 x 2 x 2.5 cm diverticulum arising from the RV apex, 5 mm neck communicating with the aneurysm and RV. No delayed enhancement of the myocardium/ RV diverticulum. Gene testing: 16 genes associated with familial thoracic aortic aneurysm and dissection tested. Patient: heterozygous for a novel D1532N variant in the FBN2 gene. This variant is not reported as a mutation or benign polymorphism.

Discussion: CCA associated with BAV and RV diverticulum is not described. CCA is genetically linked to FBN2. Congenital ventricular diverticulum is a rare finding, very infrequently affecting the RV. Multimodality imaging and gene testing may lead to better identification of this malformation and its association with genetic diseases. There is no standardized treatment of RV diverticulum. This asymptomatic patient received conservative management.

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