Endovascular Treatment for Pseudoaneurysms After the Surgical Repair of Aortic Coarctation.

In this report, we describe the case of a 28-year-old male who presented to our hospital with shortness of breath and sudden, severe central chest pain that radiated across his chest and back. The patient had a history of coarctation of the aorta (CoA) repair using Dacron patch aortoplasty at the age of 10 years, and he had been lost to clinical follow-up. A chest X-ray (CXR) revealed the widening of the upper mediastinum. He underwent emergency CT angiography, which demonstrated extensive mediastinal hematoma and contrast leaking from a 4x12 cm complex pseudoaneurysm of the proximal thoracic descending aorta. After the heart-team meeting, the transcatheter approach was deemed more feasible and safer than a surgical approach. The patient was taken to cardiac catheterization laboratory and, under general anaesthesia, we successfully implanted a tapered (28 mm - 26 mm) x 150 mm Valiant Thoracic Stent Graft with the Captivia Delivery System (Medtronic Vascular, Santa Rosa, CA). In this case, we demonstrated the feasibility and safety of using a stent graft to treat late surgical complications after CoA repair, which are not uncommon.

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been reported among native Bedouin Saudi families. Fifty Saudi families with LGMD were analyzed and the causative underlying genes were studied utilizing genome wide linkage, homozygosity mapping, and neurological gene panel. We identified one family of a Bedouin origin with LGMD1D. Two patients had progressive proximal and distal weakness, dysphagia, and respiratory symptoms. Creatinine kinase was normal. Muscle biopsy showed marked variation in myofibers size with scattered angular atrophic fiber, necrotic fibers, and myophagocytosis, with red-rimmed vacuoles depicting a sarcoplasmic body. Heterozygous c.C287T (p.P96L) variant in exon 5 of DNAJB6 (NM_005494) gene was found. This change is localized within glycine and phenylalanine rich domain and alter an amino acid residue. Our findings will expand on the existing genotypic and phenotypic spectrum of this disorder and aid in elucidating hidden mechanisms implicated in LGMD1D.