PubMed · 8957997
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J A Wildsmith, J H McClure. 1996. Aortic stent surgery.. https://doi.org/10.1093/bja%2F77.5.699
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BACKGROUND: Multifactorial inheritance is probably involved in most cases of nonsyndromic conotruncal heart defects (CHDs), but Mendelian transmission is often suspected. RESULTS: We report on a family with recurrence of nonsyndromic CTHD in two double first cousins; i.e., two brothers married two sisters. One of the cousins (case 1) had interrupted aortic arch (IAA) type B, while the other one (case 2) had truncus arteriosus (TA) with atrioventricular canal defect (AVCD). CONCLUSIONS: Our family further supports monogenic inheritance of CTHDs. In addition, the presence of TA associated with AVCD in one of the patients confirms the higher occurrence of CTHD in families with complex TA. The absence of 22q11 microdeletion (del22q11) in our patients, as in several literature reports of familial CTHDs, supports the existence of genes different to those located on chromosome 22q11 which could be implicated in the pathogenesis of CTHDs.
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We describe herein a rare but fatal complication of diaphragmatic hernia that occurred in a 51-year-old man 3 years after his diaphragm had been repaired by a polytetrafluoroethylene sheet following resection during pleuropneumonectomy for a left pleural mesothelioma. He was admitted to our hospital in shock status, and was found to have massive bleeding from the nasogastric tube. An emergency operation revealed that an ulcer of the stomach, which had been displaced into the left thorax, had perforated directly into the descending aorta.