shone syndrome
Shone syndrome, also known as Shone complex, is a rare syndrome characterized by left-sided, obstructive congenital heart defects.
Epidemiology
Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease .
Clinical presentation
Patients, usually neonates and infants, present with signs and symptoms of congestive cardiac failure . On clinical examination, patients may have murmurs heard over both the aortic and mitral areas during precordial auscultation .
Pathology
The complete Shone syndrome consists of four cardinal left-sided cardiac defects :
- supravalvular mitral membrane
- subvalvular aortic stenosis (membranous or muscular)
- parachute mitral valve
- coarctation of the aorta
Although four features were originally described, it is more common for patients to have incomplete Shone syndrome with only some of the obstructive lesions .
Radiographic features
Case studies have utilized both echocardiography and CT in order to identify each of the four obstructive cardiac defects in Shone syndrome .
See individual articles for a detailed description of each defect.
Treatment and prognosis
Surgical intervention is required in all cases. Generally, patients will need multiple surgeries at initial presentation, as well as repeated surgeries throughout their life .
History and etymology
The syndrome is named after John D Shone (1924-2002), an English pediatric cardiologist, who described the constellation of features in his 1963 seminal paper .
Siehe auch:
Assoziationen und Differentialdiagnosen zu Shone complex: