Management of manifestations
Medical cardiovascular management of LDS patients involves strict control of blood pressure to reduce hemodynamic stress on the arterial wall. β-blockade has historically been used, and is still commonly used. Angiotensin II receptor blockers (ARBs) such as losartan are hypothesized to be beneficial in LDS because of both blood pressure lowering and desirable biochemical effects within the vessel wall including attenuation of TGFβ signalling. Our personal practice is to initially administer losartan with a target dose of 2.0mg/kg/day for children and at least 100mg/day for adults. Ultra-high dose ARB dosing can be considered in refractory circumstances.
LDS-related aneurysms are amenable to prophylactic surgical intervention without a significant risk of undue vascular fragility or difficulty in establishing vascular anastomoses. Decisions regarding the precise timing of surgery are based upon integration of many variables and needs to be individualized. In general, surgical thresholds based on aortic root diameter are lower than those applied for most other vascular connective tissue disorders, including Marfan syndrome. For adults with LDS5, surgery is generally considered when the aortic root dimension is in the low-to-mid 4cm range. Precise guidelines for children with LDS5 have not been established, but there is a strong incentive to allow the aortic annulus to reach a size of 2.0-2.2cm, allowing the placement of a graft of sufficient size to accommodate somatic growth into adulthood.
Malformations, dysfunction or pain ensuing from the extra-cardiovascular anomalies are dealt with in a case-by-case manner, based on the input of a multidisciplinary team of medical specialists.
Surveillance
Cardiovascular disease is the major cause of morbidity and mortality in LDS patients, underscoring the importance of frequent cardiovascular monitoring. Individuals with LDS should be offered echocardiography once a year to monitor the thoracic aortic diameters (root and ascending) and to evaluate both morphology and functionality of the heart valves. Furthermore, head-to-pelvis magnetic resonance angiography (MRA) or computed tomography angiography (CTA) to obtain serial measurements of the entire arterial tree should be performed at diagnosis, one year thereafter, and at least every two-three years. In case of severe and rapidly progressing aneurysmal disease, more regular follow-up should be considered.