Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Gouda, Pishoy; Kay, Robert; Habib, Marina; Aziz, Amir; Aziza, Eitan; Welsh, Robert C.

doi:10.1016/j.ijcard.2022.05.065

Cited by 49 publications

(33 citation statements)

References 107 publications

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“…The mechanisms that trigger aneurysm formation or dissection are not well understood, but both genetic and environmental risk factors contribute decisively to the pathobiology of these devasting complications (20). As predisposing factors, aortic features such as atrial tortuosity, genetically determined genotype-phenotype correlations as well as cardiovascular risk factors such as arterial hypertension, hypercholesterolemia, diabetes mellitus type II, smoking, and obesity have all been identified (21)(22)(23)(24). In MFS and LDS, however, the effect of obesity on the development of aortic aneurysm or dissections is vastly unknown (25).…”

Section: Introductionmentioning

confidence: 99%

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome

Suleiman¹,

Freilinger²,

Meierhofer³

et al. 2022

Cardiovasc Diagn Ther

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Background: Aortic aneurysm and aortic dissection can have a major impact on the life expectancy of Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS) patients. Although obesity can influence the development of aortic complications, evidence on whether obesity influences the development of aortic aneurysm or dissection in MFS and LDS is limited. The aim of the present study was to elucidate the relationship between aortic size and body composition, assessed by modern bioelectrical impedance analysis (BIA) in MFS/LDS-patients. Methods: In this exploratory cross-sectional study in MFS or LDS patients, enrolled between June 2020 and May 2022, 34 patients received modern BIA and magnetic resonance imaging (MRI) (n=32) or computed tomography (CT) imaging (n=2) of the entire aorta. A P value of <0.05 was considered significant.Results: Fifty-one patients (66% female; mean age: 37.7±11.7; range, 17-68 years) with MFS or LDS were enrolled; 34 patients, 27 with MFS and 7 with LDS, underwent aortic MRI or CT scanning. The mean aortic length was 503.7±58.7 mm, and the mean thoracic aortic length and abdominal aortic length were 351.5±52.4 and 152.2±27.4 mm, respectively. The aortic bulb and the ascending aorta were measured only in the non-surgically repaired patients. Fifteen MFS (88.2%) and two LDS (40.0%) patients had an aortic aneurysm. In these, the aortic bulb tended to be larger in MFS than in LDS patients [42.6×41.9×41.2 vs. 37.8×37.4×36.8 mm; P=0.07 (−1.1; 9.1); P=0.07 (−1.2; 8.4); P=0.07 (−1.5; 7.9)]. BIA revealed mean body fat levels of 31.6%±8.7% (range, 9.5-53.5%), indicating that 18 patients (52.9%) were obese. There was a significant correlation between body fat content and thoracic aortic length (R=−0.377; P=0.02), muscle mass and total aortic length (R=0.359; P=0.03), thoracic aortic length (R=0.399; P=0.02), extracellular mass (ECM),

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Section: Introductionmentioning

confidence: 99%

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome

Suleiman¹,

Freilinger²,

Meierhofer³

et al. 2022

Cardiovasc Diagn Ther

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“…The most serious medical complications are vascular events. LDS hallmarks are early and aggressive aneurysms and dissections of the aorta and/or other large arteries [1]. vEDS hallmarks include arterial, intestinal and/or uterine fragility with risk of rupture of internal organs in addition to risk of aneurysm and dissection of middle-sized arteries [2].…”

Section: Introductionmentioning

confidence: 99%

“…Since there are clinical overlap between HTADs, the diagnoses should be confirmed by identification of pathogenic gene variants to allow for appropriate surveillance, treatment, and family studies [3]. LDS is caused by a mutation of genes encoding for transforming growth factor-beta signalling pathway TGFBR1, TGFBR2, SMAD3, and TGFB2 [1]. vEDS results from pathogenic variants in COL3A1, encoding type III collagen that is the major expressed collagen in blood vessels and hollow organs [2].…”

Section: Introductionmentioning

confidence: 99%

“…vEDS results from pathogenic variants in COL3A1, encoding type III collagen that is the major expressed collagen in blood vessels and hollow organs [2]. The prevalence of these diseases worldwide is highly uncertain; for LDS the prevalence is unknown [1] and for vEDS the prevalence is estimated 1: 50-200.000 [2].…”

Section: Introductionmentioning

confidence: 99%

“…Typically, persons with HTADs are recommended annual specialist cardiovascular evaluation, or follow-up intervals as clinically indicated. To reduce the risk of major vascular events, anti-hypertensive medication is prescribed to assure that blood pressure is maintained in the normal range, and sometimes prophylactic aortic surgery is scheduled [1,2,5]. Furthermore, it is advisable to modulate lifestyle to lower the risk of cardiovascular stress, ruptures and to reduce musculoskeletal complications.…”

Section: Introductionmentioning

confidence: 99%

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Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study

2022

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Objectives To describe education level and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome, and explore factors related to work participation. Materials and methods Cross-sectional postal survey in 2018. Individuals with molecularly verified diagnosis were recruited through a National Resource Centre for Rare Disorders. A study specific questionnaire included topics on disease burden and validated instruments regarding education level, employment, pain, fatigue, psychological distress, and satisfaction with life. Results Fifty persons (56% women) aged 18–67 years, participated. Almost 60% reported education level ≤13 years. Two thirds (66%) received disability benefits, 21 (42%) had full-time disability pension. The median age at ending work was 41 years. Full-time employed and students were younger (p = 0.014), less fatigued (p = 0.035), had less sleep problems (p = 0.028) and higher satisfaction with life (p<0.001) than those who received disability pension. A third (32%) were currently or used to be in sedentary work, and 68% currently had or used to be in practical work requiring much standing and walking (23%), much walking and lifting (34%) or heavy manual work (11%). Conclusions There is a potential that more adults with these diagnoses can sustain employment for more years. Health and social service follow-up routines and future studies should include details on employment perspectives to reveal those at risk of poor employment and to identify modifiable factors for work participation.

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Update in Pediatric Cardiology

Ashkanase,

Wong

2023

Update in Pediatrics

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Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Cited by 49 publications

References 107 publications

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome

The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study

Update in Pediatric Cardiology

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