MarfanLife.net | News blog

Largest Review To Date Of Loeys-Dietz Syndrome
At least three severe, potentially fatal genetic diseases leave patients with aortas so flimsy that they can rupture in pregnancy and labor or even lesser activities, often without warning. Beta blockers, curbing exercise, proactive blood vessel surgery and other approaches can be helpful, but their usefulness varies according to which disease and when they’re offered.

HHMI News: Early Surgery Recommended for Those with Life-Threatening Vascular Disorder
According to a new study of patients with a life-threatening condition known as Loeys-Dietz syndrome (LDS), children with the inherited vascular disorder should be considered early candidates for surgery to prevent lethal rupture of the aorta, the heart’s main artery.

HHMI News: Early Surgery Recommended for Those with Life-Threatening Vascular Disorder
According to a new study of patients with a life-threatening condition known as Loeys-Dietz syndrome (LDS), children with the inherited vascular disorder should be considered early candidates for surgery to prevent lethal rupture of the aorta, the heart’s main artery.

Mutations Distinguish Overlapping Aortic Aneurysm Syndromes - CME Teaching Brief® - MedPage Today
GHENT, Belgium, Aug. 24 — Not so long ago there was just Marfan’s syndrome as an aortic-aneurysm genetic disorder. Now two others have emerged with overlapping signs and symptoms, and there are clinical implications to sorting the three out.

Losartan Q & A from the National Marfan Foundation
Hope and optimism resonated throughout the NMF’s Annual Conference, and the buzz increased after Dr. Hal Dietz presented his recently published data about the impact of losartan, an FDA-approved medication, on mice with Marfan syndrome.

New, Deadly Relative of Marfan’s Syndrome Discovered - Forbes.com
WEDNESDAY, Aug. 23 (HealthDay News) — A connective tissue disease that is a molecular cousin of Marfan’s syndrome, but even deadlier, has been discovered by an international team of medical researchers.

The disease has been christened Loeys-Dietz Syndrome, after researchers Dr. Bart L. Loeys of the Center for Medical Genetics in Ghent, Belgium, and Dr. Harry Dietz, of Johns Hopkins University School of Medicine in Baltimore. Like Marfan’s syndrome, it is caused by a genetic flaw that weakens tissue and can kill suddenly by rupturing the aorta, the main artery of the heart.

Clinical Trial: Manifestations of Heritable Disorders of Connective Tissue

The purpose of this research is to investigate a group of genetic disorders called the Hereditary Disorders of Connective Tissue and describe the health problems associated with these conditions. These disorders and their prominent symptoms include:

• Marfan Syndrome–vascular dilatation (enlargement) and dissection (a tear in the lining), skeletal abnormalities
• Ehlers-Danlos Syndrome–soft fragile skin, bleeding problems, joint laxity (looseness), chronic pain
• Stickler Syndrome–premature osteoarthritis, bifid uvula (a split in the fleshy lobe hanging down from the soft palate), cleft palate, hearing loss, vitreoretinal degeneration (degeneration of the retina and the transparent gel that fills the inner portion of the eyeball between the lens and the retina)

From Karen Schaberg: “Here is our wonderful Emma, 4, from NJ. The first thing her mom said when she was born was, “wow, look how long her fingers and toes are!”. However, despite the doctors being told about the family history of aneurysms, it wasn’t diagnosed until last summer. Her eye was wandering and the opthamologist picked up her dislocated lenses. 24 hrs. later we went to a geneticist and eventually ended up at John Hopkins. Emma loves Disney princesses and dancing, as you can tell from her dance pose.”