Echocardiographic features of genetic diseases: part 1. Cardiomyopathy.
Introduction To The Series Genetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some characteristics are unique and can be detected with echocardiography. Drs Alizad and Seward have compiled in this series a review of genetic disorders that have recognizable morphologic and/or functional cardiovascular abnormalities. The following topics will be explored, with examples from the database of the Mayo Clinic Echocardiography Laboratory:Cardiomyopathy Storage disease Shunts Connective tissue Tumors Complex cardiovascular defects Complex genetic disorders Organ system
Alizad
A
A
Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
Seward
J B
JB
D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics; D002331:Carnitine / Q000172:deficiency; D005621:Friedreich Ataxia / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D009634:Noonan Syndrome / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
D002331:Carnitine