ABSTRACT
The purpose of this article is to illustrate the usefulness of MR imaging in the clinical evaluation of congenital and acquired cardiac diseases characterised by ventricular septal wall motion abnormality. Recognition of the features of abnormal ventricular septal motion in MR images is important to evaluate the haemodynamic status in patients with congenital and acquired heart diseases in routine clinical practice. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s13244-011-0093-4) contains supplementary material, which is available to authorized users.
ABSTRACT
El estudio genético puede resultar una pieza clave en la evaluación integral de la miocardiopatía hipertrófica familiar y en el desarrollo de una medicina individualizada. Hay pocos casos descritos, pero existe un grupo de pacientes con genotipos complejos asociados a manifestación severa de la enfermedad y alto riesgo de muerte súbita. Presentamos una familia caracterizada por evolución precoz a disfunción sistólica y diastólica en algunos de sus integrantes y muerte súbita a edades tempranas en otros. Se detectó una mutación en homocigosis (IVS6+5G>A) en el gen de la proteína C de unión a la miosina, no descrita previamente, que nos permitió explicar el fenotipo de los afectados, estimar el riesgo en otros familiares y ofrecer consejo genético (AU)
Genetic studies can play a key role in the comprehensive evaluation of familial hypertrophic cardiomyopathy and in the development of individualized medicine. Although only a few cases have been described, there exists a group of patients with complex genotypes that are associated with severe disease manifestations and a high risk of sudden death. We describe a family in which some members experienced the early development of systolic and diastolic dysfunction while others experienced sudden death at a young age. We identified a novel homozygous mutation (IVS6+5G>A) in the myosin-binding protein-C gene that explained the phenotype of affected individuals and that enabled us to estimate the risk in other family members and to offer genetic counseling (AU)
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Cardiomyopathy, Hypertrophic/genetics , Carrier Proteins/genetics , Death, Sudden/epidemiology , Mutation/genetics , Mutation/physiology , Phenotype , Cardiomyopathy, Hypertrophic , Somatotypes/genetics , Somatotypes/physiology , Risk , Pedigree , Mass Screening/methods , DNA/genetics , DNA/pharmacologyABSTRACT
To assess the prognostic value of exercise echocardiography in subjects who had diabetes, we studied 214 patients who had 28 hard cardiac events (cardiac death in 15, myocardial infarction in 13) during a follow-up of 44 +/- 16 months. Independent risk factors for predicting cardiac events were insulin therapy (odds ratio 2.313), peak left ventricular ejection fraction (odds ratio 0.973), and ischemia detected by exercise echocardiography (odds ratio 2.513).
