From the Guidelines
Hourglass syndrome, also known as supravalvular aortic stenosis (SupraAS), is a serious cardiac condition that requires prompt medical attention to prevent complications such as heart failure, coronary artery disease, and even death. This condition accounts for 7% of all fixed forms of left ventricular outflow tract obstruction (LVOTO) and is often associated with a loss-of-function mutation of the elastin gene on chromosome 7q11.23, leading to an obstructive arteriopathy of varying severity 1. The condition can manifest as a localized fibrous diaphragm, an external hourglass deformity, or diffuse stenosis of the ascending aorta, and is frequently seen in patients with Williams-Beuren syndrome.
Key characteristics of hourglass syndrome include:
- Luminal narrowing of the aorta
- External hourglass deformity
- Diffuse stenosis of the ascending aorta
- Association with hypoplasia of the entire aorta, involvement of coronary ostia, or stenosis of major branches of the aorta or pulmonary arteries 1.
Treatment of hourglass syndrome typically involves surgical intervention to relieve the obstruction and prevent further complications. Surgical repair or replacement of the affected aortic segment is often necessary to restore normal blood flow and prevent long-term damage to the heart and other organs. Patients with hourglass syndrome require regular monitoring and follow-up care to manage their condition and prevent potential complications. According to the ESC guidelines for the management of grown-up congenital heart disease, patients with supravalvular aortic stenosis should be evaluated and treated by a multidisciplinary team of cardiologists, cardiac surgeons, and other specialists 1.
From the Research
Hour Glass Syndrome
- The term "hour glass syndrome" or "hourglass deformity" is used in various medical contexts, including:
- Peyronie's disease, a wound-healing disorder of the tunica albuginea, where it refers to a specific type of penile deformity 2
- Carpal tunnel syndrome, where it describes a rare phenomenon of median nerve constriction 3
- Cervical dilation during pregnancy, where it refers to the protrusion of amniotic membranes 4
- In Peyronie's disease, hourglass deformity is a type of atypical presentation, which can be managed with surgical techniques such as plaque incision or partial excision and grafting 2
- In carpal tunnel syndrome, hourglass constriction of the median nerve can be treated with internal and external neurolysis, and in severe cases, resection and end-to-end repair may be necessary 3
- In cervical dilation during pregnancy, conservative management with bed rest, hydration, and antibiotic therapy may be effective in prolonging pregnancy 4
- There is no direct evidence linking hour glass syndrome to gastroparesis or omeprazole treatment 5, 6