Recanalization of a complete coarctation with isthmus occlusion was successfully accomplished in a 16-year-old patient using radiofrequency. This allowed the insertion and deployment of a covered stent to reestablish flow continuity across the isthmus. No complications were encountered. To the authors' knowledge this is the first case of radiofrequency use for complete coarctation, and among the rare cases of complete coarctation addressed primarily percutaneously to be reported.
A 4-year-old girl had an Amplatzer duct occluder embolized to the descending aorta immediately after closure of patent ductus arteriosus: a novel technique of retrieval.
Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 linked with a dilated phenotype, in NRAP linked with a mixed phenotype of dilated/hypertrophic, and in KLHL24 linked with a mixed phenotype of dilated/hypertrophic and non-compaction features. Co-segregation analysis in family members confirmed autosomal recessive inheritance presenting in early childhood/early adulthood. Our findings add to the mutational spectrum of recessive cardiomyopathies, supporting inclusion of KLHL24, NRAP and RBCK1 as disease-causing genes. We also provide evidence for novel (recessive) modes of inheritance of a well-established gene TNNI3K and expand our knowledge of the clinical heterogeneity of cardiomyopathies. A greater understanding of the genetic causes of recessive cardiomyopathies has major implications for diagnosis and screening, particularly in underrepresented populations, such as those of the Middle East.
after the onset of fever with signs and symptoms of Kawasaki disease. He was treated with intravenous immunoglobulin, heparin, and oral aspirin. His echocardiogram showed giant bilateral coronary arterial aneurysms with a moderate pericardial effusion. Three days later, there were also large thrombuses in both his right and left coronary arteries, as demonstrated on this parasternal short axis echocardiographic view at the level of the aorta ( Figure; Abbreviations: Ao ϭ aorta; LCA ϭ main stem of left coronary artery; RCA ϭ right coronary artery; RV ϭ right ventricle). Giant aneurysms of the left (12 millimetres) and right (6.5 millimetres) coronary arteries are seen, with a large thrombus (delineated by horizontal arrowheads) within the lumen of the left anterior interventricular coronary artery. A moving image showing the salient features is posted on the website at
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