A large proportion (56%) of symptomatic patients does not undergo aortic valve replacement. Often operative risk is estimated (too) high or hemodynamic severity and symptomatic status are misclassified. Interdisciplinary team discussions between cardiologists and surgeons should be encouraged to optimize patient selection for surgery.
Mitral regurgitation (MR) poses a significant clinical burden in the adult population, which is expected to increase even more with the ever prolonging life expectancies in developed countries. New technology has brought MR, once exclusively the arena of cardiac surgeons, to the attention of interventional cardiologists. A variety of device-oriented transcatheter strategies have evolved in recent years. A comprehensive understanding of mitral valvular anatomy is crucial for the selection of patients, the implementation of devices, and further refinements of these transcatheter techniques if they are eventually to produce procedural and clinical success. The aim of this review is to elucidate the morphology of the mitral valvular complex, integrating key anatomical features into the developing transcatheter options for the treatment of MR.
We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies include non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. The laterality sequence anomalies include left bronchial isomerism, azygous continuation of the inferior vena cava, polysplenia and intestinal malrotation, all compatible with left isomerism. This new syndrome is inherited in an autosomal dominant pattern. A genome-wide linkage analysis suggested linkage to chromosome 6p24.3-21.2 with a maximum LOD score of 2.7 at marker D6S276. The linkage interval is located between markers D6S470 (telomeric side) and D6S1610 (centromeric side), and overlaps with the linkage interval in another family with heterotaxy reported previously. Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype.
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