Internal medicine
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Phospholamban p. Arg14del is reported to cause hereditary cardiomyopathy with malignant ventricular tachycardia (VT) and advanced heart failure. However, the clinical courses of Japanese cardiomyopathy patients with phospholamban p. ⋯ Four patients survived after implantation of a left ventricular assist device (LVAD), while one patient who refused LVAD implantation died of heart failure. Based on the severe course of the disease, we propose genetic screening for phospholamban p. Arg14del in DCM patients.
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Case Reports
A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome: A Case Report.
Branchio-oto-renal syndrome is an autosomal dominant disorder characterized by branchial anomalies, hearing loss, and renal urinary tract malformations. We herein report a 32-year-old Japanese man with a right preauricular pit, bilateral mixed hearing loss, and malposition of the right kidney who presented with proteinuria. ⋯ A trio exome analysis conducted among the patient and his parents failed to identify the causal gene variant, despite a sporadic pattern. His kidney function remained stable for 11 years with an angiotensin II receptor blocker.
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Case Reports
Pulmonary Tumor Thrombotic Microangiopathy Caused by Recurrent Gastric Cancer 26 Years After Total Gastrectomy.
Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare cancer-related complication that induces pulmonary hypertension (PH). PTTM can be caused by recurrent cancer, with 12 years being the longest reported interval from primary cancer to the development of PTTM. ⋯ An autopsy revealed PTTM-specific histological characteristics. Our findings indicate that PTTM should be considered as a diagnosis for patients with a history of cancer who develop PH, even several decades after treatment.