Familial occurrence of discrete subaortic membrane

Abstract

The first case of multiple family members with discrete subaortic membrane and no other congenital defects is presented. One family member presents with findings suggesting a forme fruste of this disease. Increased surveillance of family members of individuals with discrete subaortic membrane is warranted, as the clinical findings of mild subaortic obstruction may be indistinguishable from those of an innocent flow murmur.

Risk factors for reoperation after relief of congenital subaortic stenosis☆

“…Although a genetic predisposition to subaortic stenosis has been postulated by some [16,17], partly due to abnormal aorto-septal geometry with a wider angle leading to increased shear stress and cellular proliferation [6], genetically known syndromes in our series showed no increase in prevalence with regards to this lesion, compared to a larger cohort of syndromal patients with other associated cardiac defects. Equally, although there was a tendency towards more reoperations in patients with chromosomal syndromes, we found no statistically significant difference with regards to risk of recurrence, neither when considering the entire cohort together, nor when analyzing the subgroups simple and complex defects separately.…”

The Natural History of Congenital Subaortic Stenosis

“…Chronic blood flow disturbance in the LVOT, in genetic predisposed individuals, may result in cellular proliferation when the LVOT is exposed to altered shear stresses. [3][4][5][6] LVOT morphological abnormalities, other than SAS, such as anomalous mitral valve insertion, accessory mitral valve tissue, abnormal mitral papillary muscle, anomalous muscular bands within the LVOT, and posterior displacement of the infundibular septum without ventricular septal defect, may be present in 30-50% of patients, thus contributing to flow disturbance. 7,8 This potential was demonstrated in a recent study in which patients with surgical corrected congenital heart defects and reminiscent LVOT morphological anomalies developed secondary SAS.…”

Outcomes and Questions About Discrete Subaortic Stenosis

“…1 There have only been rare reports suggesting a familial occurrence, and overall, there is little evidence that it is a primarily genetic disorder. 4 Although a developmental origin has the most support, it does not appear to completely explain these lesions, and questions remain.…”