International journal of cardiology
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Letter Case Reports
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
We report a case of a 43 year old man from Spain, who has been diagnosed with Naxos disease. It is a hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy, which has been associated with a mutation in plakoglobin encoding gene in chromosome 17q21. ⋯ Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene. These results suggest the existence of other causative genes and/or other putative sites in desmoplakin/plakoglobin encoding genes than those recently published.
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Comment Letter Case Reports
Pulmonary alveolar microlithiasis: a rare cause of severe pulmonary hypertension.
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Peripartum cardiomyopathy (PPCM) is a rare disorder of dilated cardiomyopathy and left ventricular dysfunction occurring in the last month of pregnancy or within 5 months postpartum. Outcome of PPCM is highly variable, comprising clinical improvement and rapid deterioration unresponsive to medical treatment requiring heart transplantation or even death. In this study, we report the clinicopathologic findings of 10 patients with PPCM who were retrospectively identified in our cardiomyopathy registry. ⋯ In conclusion, in our retrospective observational study, no patient diagnosed with PPCM died or received orthotopic heart transplantation. Improvement of left ventricular ejection fraction was present in eight patients (80%), while LV dysfunction persisted in four patients. Our findings support the hypothesis of an underlying autoimmune pathomechanism in this rare disease.
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The aim of this study was to evaluate the clinical utility of serum pregnancy associated plasma protein-A (PAPP-A) levels in assisting triage of an intermediate to high-risk patient presenting with chest pain in the Emergency Department and no definite evidence of an acute coronary syndrome. ⋯ Elevated serum PAPP-A levels were predictive of a diagnosis of acute coronary syndrome in intermediate- to high-risk patients presenting to the Emergency Department with chest pain and no definite evidence of an acute coronary syndrome. Thus, serum PAPP-A may be valuable as an adjunct, minimally invasive marker to improve risk stratification in chest pain patients.