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Loeys-Dietz syndrome

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Updated 2024 EACTS/STS and 2022 ACC/AHA guidelines for the management of aortic disease in Loeys-Dietz syndrome.

Background

Overview

Definition
LDS is a heritable disorder of the connective tissue characterized by multisystem involvement, including craniofacial features, skeletal abnormalities, cutaneous findings, and early-onset and aggressive disease of the aorta and its branches.
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Pathophysiology
LDS is linked to mutations in genes encoding components of the transforming growth factor-beta signaling pathway. These mutations lead to an overactivation of the transforming growth factor-beta signaling pathway, which plays a crucial role in the growth and development of connective tissues throughout the body. This overactivation results in the abnormal development of various tissues, particularly those in the heart, blood vessels, and skeletal system.
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Epidemiology
The estimated worldwide prevalence of LDS is estimated at 0.00074 per 100,000 population.
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Disease course
Clinical manifestations include craniofacial features, skeletal abnormalities such as long and slender limbs (arachnodactyly), joint laxity, and chest deformities (pectus excavatum), cutaneous findings, and early-onset and aggressive disease of the aorta and its branches. Vascular complications, such as arterial tortuosity and aneurysms, are common and distinctive features of LDS. These vascular abnormalities can lead to serious events like aortic aneurysm rupture, which can be life-threatening.
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Prognosis and risk of recurrence
The prognosis is variable and is largely dependent on the patient's specific genetic mutations and the management of associated cardiovascular complications.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Loeys-Dietz syndrome are prepared by our editorial team based on guidelines from the Society of Thoracic Surgeons (STS/EACTS 2024), the American Heart Association (AHA/ACC 2022), and the Genetic Aortic Disorders Association Canada (GADA 2014)....
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Diagnostic investigations

Aortic imaging
As per ACC/AHA 2022 guidelines:
Obtain a baseline TTE in patients with LDS to determine the diameters of the aortic root and ascending aorta, and 6 months thereafter to determine the rate of aortic growth. Obtain annual TTE surveillance if the aortic diameters are stable.
B
Obtain a baseline MRI or CT from head to pelvis in patients with LDS to evaluate the entire aorta and its branches for aneurysm, dissection, and tortuosity.
B
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Medical management

Antihypertensives: as per ACC/AHA 2022 guidelines, Consider offering β-blockers or ARBs (unless contraindicated), or both, in maximally tolerated doses in patients with LDS.
C

Nonpharmacologic interventions

Physical activity: as per EACTS/STS 2024 guidelines, Educate patients about the specific risks and benefits of exercise.
B
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Surgical interventions

Aortic repair: as per EACTS/STS 2024 guidelines, Decide on the indication for surgery in patients with LDS based on the specific genetic variant, aortic diameter, aortic growth rate, family history, history of aortic events, patient age, and other individual patient-related factors and discussed by a multidisciplinary aortic team.
B
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Specific circumstances

Pregnant patients
As per ACC/AHA 2022 guidelines:
Consider performing surgery before pregnancy in patients with LDS attributable to pathogenic variants in TGFB2 or TGFB3 and an aortic diameter of ≥ 4.5 cm.
C
Consider performing surgery before pregnancy in patients with LDS attributable to pathogenic variants in TGFBR1, TGFBR2, or SMAD3 and an aortic diameter is ≥ 4.0 cm.
C

Follow-up and surveillance

Serial imaging assessment: as per ACC/AHA 2022 guidelines, Obtain a TTE at 6 months to determine the rate of aortic growth in patients with LDS. Obtain annual TTE surveillance if the aortic diameters are stable.
B
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