LOEYS- DIETZ SYNDROME

Overview and Facts

Loeys- Dietz syndrome (LDS) was discovered in 2005 by genetic experts in the pediatric population, Bart Loeys and Hal Dietz. This syndrome shares the same features with connective tissue diseases, Marfan’s Syndrome and Ehlers-Danlos syndrome. 

Loeys Dietz syndrome is commonly found among children. The hallmark of LDS is an aortic aneurysm, which is the enlargement of any of the part of the aorta. Since this usually occurs in children, this affects small blood vessels and are of high risk for rupture. 

In LDS, there is deficient collagen production, the substance responsible for maintaining the tautness of the skin. Therefore, the absence of this substance predisposes the skin to cuts and tears. LDS has a dominant feature, and one does not need to have both parents possessing the gene that expresses LDS for the offspring to be affected. It only requires a single gene from either parent to manifest the syndrome.

Types and Symptoms

TYPES

LDS type I- defect in transforming growth factor at the beta receptor position 1

It presents with craniofacial abnormalities upon birth which may include early fusion of the cranial bones. 

LDS type II  – a defect in transforming growth factor at the beta receptor position There is no detectable craniofacial deformity present at birth.

SYMPTOMS

Children are the most vulnerable of this type of disorder. These patients can be identified readily because of the presence of any of the following:

  • Large space between both eyes otherwise called hypertelorism
  • Presence of inverted V-shaped uvula
  • Note of cleft palate
  • Bluish gray colored sclerae
  • Congenital cardiac abnormalities 
  • Talipes equinovarus, a condition wherein the foot is rotated on the ankle and is facing inward.
  • Abnormal vertebral curvatures such as scoliosis, kyphosis and lordosis
  • Early closure of the anterior fontanelle resulting in a cone-shaped head of the baby
  • Inward curvature of the sternum: pectus excavatum and pectus carinatum
  • The ability of the person to hyperflex his or her extremities from the joint
  • Some may present with crossed eyes

Diagnosis & Medications

DIAGNOSIS

Work-up for aortic aneurysms involves any of the following: 

  • Computerized tomography with contrast- This procedure utilizes a hypoallergenic dye injected intravenously, and the patient is then scanned afterwards. Any deformity in the area of the aorta can be seen while the dye traverses the vessel.
  • Employing the genetic testing method- LDS patients possess a characteristic physical appearance but confirmation using appropriate genetic mapping for confirmatory is needed. 

TREATMENT

LDS is considered as a lifetime diagnosis. Many children die young upon discovery of the syndrome, but there are specific therapeutic options available and are as follows:

  • Surgical correction of the aortic aneurysm
  • Use of angiotensin receptor II agonist in the form of the antihypertensive drug Losartan which affects the transforming growth factor 2 that prevents the weakening of the aortic walls that results in aneurysms.
  • Beta-blockers- these type of drugs are used in cases of tachycardia
  • If the child survives the condition, they are discouraged from sports and other activities that have extreme body contact

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