Pub Date : 2019-03-01DOI: 10.20418/JRCD.VOL3NO8.362
Anna Prochwicz, S. Fornagiel, K. Krawczyk, D. Krochmalczyk
Essential thrombocythemia is one of the Ph-negative myeloproliferative neoplasms treated with hydroxyurea. An alternative strategy may be a therapy with thromboreductin. The aim of the study was to compare the effectiveness of hydroxyurea and thromboreductin treatment, defined by a decrease in the platelet count. The study group consisted of 154 patients with essential thrombocythemia diag‐ nosed and treated at the Outpatient Clinic of Hematology in Krakow, Poland between 1995 and 2016. Patients were included in the study at the start of cytoreductive treatment. 102 patients was treated with hydroxyurea and 52 patients treated with thromboreducin. We set the limit values for the number of platelets on levels : <800 x 10 9 /L, <600 x 10 9 /L, <450 x 10 9 /L and <350 x 10 9 /L. Afterwards, the analysis of the time required to achieve each point was performed. A comparison of hydroxyurea and thromboreductin groups showed that the number of platelets at the beginning of therapy was significantly lower in patients treated with hydroxyurea. Platelets value in the last control was significantly lower in patients treated with thromboreductin than hydroxyurea. The change in total platelet count over the time was significantly higher in the thromboreductin group. Patients treated with thromboreductin had a faster platelets reduction lower than 450 x10 9 /L. Tromboreductin is effective in reducing the number of platelets in patients with resistant essential thrombocythemia or intolerant of hydroxyurea regardless of age. JRCD 2018; 3 (8): 266–270
{"title":"Comparison of platelet count reduction in patients with essential thrombocythaemia treated with hydroxyurea and thromboreductin. Single centre experience (RCD code: VIII)","authors":"Anna Prochwicz, S. Fornagiel, K. Krawczyk, D. Krochmalczyk","doi":"10.20418/JRCD.VOL3NO8.362","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO8.362","url":null,"abstract":"Essential thrombocythemia is one of the Ph-negative myeloproliferative neoplasms treated with hydroxyurea. An alternative strategy may be a therapy with thromboreductin. The aim of the study was to compare the effectiveness of hydroxyurea and thromboreductin treatment, defined by a decrease in the platelet count. The study group consisted of 154 patients with essential thrombocythemia diag‐ nosed and treated at the Outpatient Clinic of Hematology in Krakow, Poland between 1995 and 2016. Patients were included in the study at the start of cytoreductive treatment. 102 patients was treated with hydroxyurea and 52 patients treated with thromboreducin. We set the limit values for the number of platelets on levels : <800 x 10 9 /L, <600 x 10 9 /L, <450 x 10 9 /L and <350 x 10 9 /L. Afterwards, the analysis of the time required to achieve each point was performed. A comparison of hydroxyurea and thromboreductin groups showed that the number of platelets at the beginning of therapy was significantly lower in patients treated with hydroxyurea. Platelets value in the last control was significantly lower in patients treated with thromboreductin than hydroxyurea. The change in total platelet count over the time was significantly higher in the thromboreductin group. Patients treated with thromboreductin had a faster platelets reduction lower than 450 x10 9 /L. Tromboreductin is effective in reducing the number of platelets in patients with resistant essential thrombocythemia or intolerant of hydroxyurea regardless of age. JRCD 2018; 3 (8): 266–270","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89634674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-31DOI: 10.20418/JRCD.VOL3NO8.336
J. Tai, Anam Haider, B. Hussain
Pakistan has recently witnessed an epidemic of dengue infection and thereafter, certain various presentations of patients with dengue infection have been reported. The cardiac manifestation of dengue infection is primarily an inflammatory response to infection, however, dengue can rarely present as Takotsubo syndrome. Here, we report a the case of a 69‐year- old male, who presented with fever and ab‐ dominal pain and was diagnosed with dengue fever on serological workup. Just prior to being discharged, the patient developed acute chest pain, and dyspnoea with ST‐segment elevation in the anterolateral leads on electrocardiogram and raised cardiac biomarkers. An urgent coronary angiogram showed non‐obstructive coronary artery disease with apical ballooning on ventriculography. On the basis of this, the patient was diagnosed as have TTS associated with dengue fever. The patient was medically treated with success and was later discharged. He remains currently asymptomatic and his left ventricular ejection fraction recovered to normal (60%) on repeat echo after 6 months. JRCD 2018; 3 (8): 278–280
{"title":"Heart broken by a mosquito; an unusual case of Takotsubo cardiomyopathy (RCD code: III‐5B)","authors":"J. Tai, Anam Haider, B. Hussain","doi":"10.20418/JRCD.VOL3NO8.336","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO8.336","url":null,"abstract":"Pakistan has recently witnessed an epidemic of dengue infection and thereafter, certain various presentations of patients with dengue infection have been reported. The cardiac manifestation of dengue infection is primarily an inflammatory response to infection, however, dengue can rarely present as Takotsubo syndrome. Here, we report a the case of a 69‐year- old male, who presented with fever and ab‐ dominal pain and was diagnosed with dengue fever on serological workup. Just prior to being discharged, the patient developed acute chest pain, and dyspnoea with ST‐segment elevation in the anterolateral leads on electrocardiogram and raised cardiac biomarkers. An urgent coronary angiogram showed non‐obstructive coronary artery disease with apical ballooning on ventriculography. On the basis of this, the patient was diagnosed as have TTS associated with dengue fever. The patient was medically treated with success and was later discharged. He remains currently asymptomatic and his left ventricular ejection fraction recovered to normal (60%) on repeat echo after 6 months. JRCD 2018; 3 (8): 278–280","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"62 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87063107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-17DOI: 10.20418/JRCD.VOL3NO8.348
Hossein Farsavian, M. Davoodi, M. Bonyadi, A. Hessami, A. Shamshirian, S. Hashemi, Sina Nazemi, Ashkan Piranviseh
Splenic artery aneurysm occurs in 1% of the population. Most splenic artery aneurysms are asymptomatic and are diagnosed incidentally Symptomatic splenic artery aneurysm is usually detected due to rupture, while non‐ruptured splenic artery aneurysm is rare We present the case of a 69‐year‐old female who presented with signs of left abdominal pain and vomiting, and was diagnosed with splenic artery aneurysm. Diagnosis was made by CT scan and revealed a non‐ruptured splenic artery aneurysm. Open abdominal surgery, endovas‐ cular treatment and laparoscopic surgery are treatment options for splenic artery aneurysms. Immediate treatment after diagnosis of symptomatic splenic artery aneurysm is recommended. JRCD 2018; 3 (8): 275–277
{"title":"Non‐ruptured symptomatic splenic artery aneurysm (RCD code: I-1D.1)","authors":"Hossein Farsavian, M. Davoodi, M. Bonyadi, A. Hessami, A. Shamshirian, S. Hashemi, Sina Nazemi, Ashkan Piranviseh","doi":"10.20418/JRCD.VOL3NO8.348","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO8.348","url":null,"abstract":"Splenic artery aneurysm occurs in 1% of the population. Most splenic artery aneurysms are asymptomatic and are diagnosed incidentally Symptomatic splenic artery aneurysm is usually detected due to rupture, while non‐ruptured splenic artery aneurysm is rare We present the case of a 69‐year‐old female who presented with signs of left abdominal pain and vomiting, and was diagnosed with splenic artery aneurysm. Diagnosis was made by CT scan and revealed a non‐ruptured splenic artery aneurysm. Open abdominal surgery, endovas‐ cular treatment and laparoscopic surgery are treatment options for splenic artery aneurysms. Immediate treatment after diagnosis of symptomatic splenic artery aneurysm is recommended. JRCD 2018; 3 (8): 275–277","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"312 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78277723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-15DOI: 10.20418/JRCD.VOL3NO8.331
P. Orda, A. Krivickienė, T. Lapinskas, E. Ereminienė
Left ventricular non‐compaction (LVNC), or “spongy myocardium”, is a rare cardiac morphological condition detected in 0.05–0.26% of all adults undergoing transthoracic echocardiography, with an increasing prevalence in the recent years. Our clinical case of a 54‐year‐old asymptomatic female illustrates the importance of additional cardiovascular imaging technologies in the diagnostic work‐up of the patient. The patient was referred to a cardiologist due to a left bundle branch block found on routine electrocardiogram examination. Transthoracic echocardiography did not reveal any specific changes, although a single photon emission computed tomography scan revealed a fixed myocardial perfusion defect. This defect was regarded as non‐typical for inducible myocardial ischaemia and indicative of a non‐specific cardiomyopathy. Further investigation using cardiac magnetic resonance imaging confirmed the phenotype of LVNC. JRCD 2018; 3 (8): 271–274
{"title":"Left ventricular non‐compaction – diagnostic challenges (RCD code: III‐5A.1.o)","authors":"P. Orda, A. Krivickienė, T. Lapinskas, E. Ereminienė","doi":"10.20418/JRCD.VOL3NO8.331","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO8.331","url":null,"abstract":"Left ventricular non‐compaction (LVNC), or “spongy myocardium”, is a rare cardiac morphological condition detected in 0.05–0.26% of all adults undergoing transthoracic echocardiography, with an increasing prevalence in the recent years. Our clinical case of a 54‐year‐old asymptomatic female illustrates the importance of additional cardiovascular imaging technologies in the diagnostic work‐up of the patient. The patient was referred to a cardiologist due to a left bundle branch block found on routine electrocardiogram examination. Transthoracic echocardiography did not reveal any specific changes, although a single photon emission computed tomography scan revealed a fixed myocardial perfusion defect. This defect was regarded as non‐typical for inducible myocardial ischaemia and indicative of a non‐specific cardiomyopathy. Further investigation using cardiac magnetic resonance imaging confirmed the phenotype of LVNC. JRCD 2018; 3 (8): 271–274","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"58 6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87723253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-15DOI: 10.20418/JRCD.VOL3NO8.337
E. Koźluk, Dariusz Rodkiewicz, A. Piątkowska, P. Matusik, G. Opolski
Patients with atrial fibrillation (AF) are at increased risk of stroke and systemic thromboembolism and prevention of such episodes is ensured by choosing appropriate anticoagulation. In paroxysmal drug‐refractory AF, catheter ablation is the recommended choice of treatment. The decision on whether to stop administration of oral anticoagulant before catheter ablation procedures is often unclear. We present the case of a 67‐year‐old hypertensive woman with a 5‐year history of symptomatic, drug‐refractory paroxysmal AF, who was admitted for pulmonary vein isolation (PVI) and was anticoagulated with dabigatran. After successful transseptal puncture, an intravenous injection of 10 000 units of heparin was administered. Radiofrequency ablation was initiated at the left pulmonary trunk. After the second application of radiofrequency ablation, a drop in arterial blood pressure to 70/50 mmHg was observed. Urgent echocardiography revealed the presence of fluid within the epicardial surface of the left ventricular apex up to 19 mm, behind the right ventricle and right atrium up to 11 mm. Subsequently, all catheters were removed from the left atrium, and 50 mg of protamine sulfate, dopamine, and intravenous fluids were immediately administered. Idarucizumab was urgently delivered to the catheterisation laboratory and was available during patient hospitalisation in the intensive care unit. However, prior to patient discharge, echocardiography revealed only a trace amount of fluid in the pericardium and the use of idarucizumab was not indicated. Interruption of anticoagulation treatment with dabigatran before ablation is not required. Idarucizumab increases the safety of PVI in patients treated with dabigatran. JRCD 2018; 3 (8): 281–283
{"title":"Safety of pulmonary vein isolation in atrial fibrillation patients treated with dabigatran when idarucizumab is available (RCDD code: VIII)","authors":"E. Koźluk, Dariusz Rodkiewicz, A. Piątkowska, P. Matusik, G. Opolski","doi":"10.20418/JRCD.VOL3NO8.337","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO8.337","url":null,"abstract":"Patients with atrial fibrillation (AF) are at increased risk of stroke and systemic thromboembolism and prevention of such episodes is ensured by choosing appropriate anticoagulation. In paroxysmal drug‐refractory AF, catheter ablation is the recommended choice of treatment. The decision on whether to stop administration of oral anticoagulant before catheter ablation procedures is often unclear. We present the case of a 67‐year‐old hypertensive woman with a 5‐year history of symptomatic, drug‐refractory paroxysmal AF, who was admitted for pulmonary vein isolation (PVI) and was anticoagulated with dabigatran. After successful transseptal puncture, an intravenous injection of 10 000 units of heparin was administered. Radiofrequency ablation was initiated at the left pulmonary trunk. After the second application of radiofrequency ablation, a drop in arterial blood pressure to 70/50 mmHg was observed. Urgent echocardiography revealed the presence of fluid within the epicardial surface of the left ventricular apex up to 19 mm, behind the right ventricle and right atrium up to 11 mm. Subsequently, all catheters were removed from the left atrium, and 50 mg of protamine sulfate, dopamine, and intravenous fluids were immediately administered. Idarucizumab was urgently delivered to the catheterisation laboratory and was available during patient hospitalisation in the intensive care unit. However, prior to patient discharge, echocardiography revealed only a trace amount of fluid in the pericardium and the use of idarucizumab was not indicated. Interruption of anticoagulation treatment with dabigatran before ablation is not required. Idarucizumab increases the safety of PVI in patients treated with dabigatran. JRCD 2018; 3 (8): 281–283","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90697715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-12-05DOI: 10.20418/JRCD.VOL0NO0.355
P. Podolec
{"title":"Five years of Journal of Rare Cardiovascular Diseases","authors":"P. Podolec","doi":"10.20418/JRCD.VOL0NO0.355","DOIUrl":"https://doi.org/10.20418/JRCD.VOL0NO0.355","url":null,"abstract":"","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"51 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2018-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73267086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-08-21DOI: 10.20418/jrcd.vol3no7.335
J. Chmiel, M. Skubera, J. Bednarek, Klaudia Knap, Marta Swarowska Skuza, Stanisława Bazan ‐ Socha, A. Mazurek, L. Tomkiewicz-Pajak, M. Olszowska, P. Podolec, P. Musialek
We discuss a 56‑year‑old man with Fabry disease (FD), a genetic X‑linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia‑associated chest pain, which had occurred occasionally in the past, but on that occasion was long‑lasting (>12h) and distressing. The patient had been diagnosed with FD at the age of 42. He presented a range of symptoms characteristic for the condition, including hypertrophic cardiac myopathy with impaired left ventricular relaxation, angiokeratomas, cornea verticillata, hypohydrosis and acroparesthesia. Residual alpha‑galactosidase A activity at diagnosis was ≈3%. The Enzyme Replacement Therapy (ERT) with the agalsidase alpha was induced. A year later pacemaker implantation was performed due to sick sinus syndrome with symptomatic, severe episodes of bradycardia. The initial diagnosis was tachycardia‑associated chest pain with troponin release in the context of FD left ventricular hypertrophy. However, a decision was made to perform an urgent angiographic evaluation to exclude coronary pathology as a potential factor in the clinical picture. Coronary angiography showed a critical, flow-limiting, stenosis of the left anterior descending artery (LAD) which changed the initial type 2 myocardial infarction (MI) diagnosis to the type 1 MI. Percutaneous stent‑assisted treatment was performed with an optimal angiographic and clinical outcome. However, 5 days later the patient developed a minor left hemispheric ischaemic stroke. In conclusion, the clinical course of a rare pathology such as FD may be importantly complicated by other (more common) pathologies. Physicians, in their diagnostic and therapeutic decision‑making, need to be open to thinking beyond the patient label. JRCD 2018; 3 (7): 246–252
{"title":"Myocardial infarction in Fabry disease – misfortune or companion? Case report and review of the literature (RCD code: III‑3B.2)","authors":"J. Chmiel, M. Skubera, J. Bednarek, Klaudia Knap, Marta Swarowska Skuza, Stanisława Bazan ‐ Socha, A. Mazurek, L. Tomkiewicz-Pajak, M. Olszowska, P. Podolec, P. Musialek","doi":"10.20418/jrcd.vol3no7.335","DOIUrl":"https://doi.org/10.20418/jrcd.vol3no7.335","url":null,"abstract":"We discuss a 56‑year‑old man with Fabry disease (FD), a genetic X‑linked glycolipid storage disorder. The patient presented at the Emergency Room in a local hospital due to tachycardia‑associated chest pain, which had occurred occasionally in the past, but on that occasion was long‑lasting (>12h) and distressing. The patient had been diagnosed with FD at the age of 42. He presented a range of symptoms characteristic for the condition, including hypertrophic cardiac myopathy with impaired left ventricular relaxation, angiokeratomas, cornea verticillata, hypohydrosis and acroparesthesia. Residual alpha‑galactosidase A activity at diagnosis was ≈3%. The Enzyme Replacement Therapy (ERT) with the agalsidase alpha was induced. A year later pacemaker implantation was performed due to sick sinus syndrome with symptomatic, severe episodes of bradycardia. The initial diagnosis was tachycardia‑associated chest pain with troponin release in the context of FD left ventricular hypertrophy. However, a decision was made to perform an urgent angiographic evaluation to exclude coronary pathology as a potential factor in the clinical picture. Coronary angiography showed a critical, flow-limiting, stenosis of the left anterior descending artery (LAD) which changed the initial type 2 myocardial infarction (MI) diagnosis to the type 1 MI. Percutaneous stent‑assisted treatment was performed with an optimal angiographic and clinical outcome. However, 5 days later the patient developed a minor left hemispheric ischaemic stroke. In conclusion, the clinical course of a rare pathology such as FD may be importantly complicated by other (more common) pathologies. Physicians, in their diagnostic and therapeutic decision‑making, need to be open to thinking beyond the patient label. JRCD 2018; 3 (7): 246–252","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"21 1","pages":"246"},"PeriodicalIF":0.0,"publicationDate":"2018-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82226748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-08-21DOI: 10.20418/JRCD.VOL3NO7.338
P. Podolec
{"title":"JRCD is now an open‑access journal and also accepts high‑quality papers beyond the field of rare cardiovascular diseases and disorders","authors":"P. Podolec","doi":"10.20418/JRCD.VOL3NO7.338","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO7.338","url":null,"abstract":"","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"22 3 1","pages":"225"},"PeriodicalIF":0.0,"publicationDate":"2018-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78718712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-08-21DOI: 10.20418/JRCD.VOL3NO7.330
P. Podolec, G. Kopeć, P. Rubis, J. Stępniewski, J. Podolec, M. Komar, L. Tomkiewicz-Pajak, A. Leśniak‑Sobelga, A. Kabłak-Ziembicka, P. Matusik
Rare diseases and disorders constitute important clinical problems. There are many concerns among physicians while planning the diagnostic and treatment process of such a heterogenous group of patients. These concerns arise not only from the rarity of cases, but also from multiple gaps in knowledge on the management of patients with rare diseases and disorders. The commonly accepted prevalence of rare diseases and disorders is 1 per 2 000 in the general population or less. Incidental prevalence and multiplicity of comorbidities result in an inability to gather enough experience at any single centre. Thus, cooperation and the exchange of ideas is important for the management of patients with rare diseases. Classification of rare cardiovascular diseases and disorders (RCDD) is crucial for expanding knowledge in the field of RCDD. It consists of an overview of RCDD, facilitates clinical approaches to patients and makes the creation of registries and databases easier. We hope that the updated RCDD classification will aid medical practice through the contribution to progress in diagnostics and therapy. It also serves as a summary of scientific achievements in the field of RCDD. Without the grouping of specific disorders, it is very difficult to create diagnostic and therapeutic algorithms. The Classification of RCDD was published for the first time in the Journal of Rare Cardiovascular Diseases (JRCD) in 2013 [1]. RCDD classification was discussed during the 2013 European Society of Cardiology Congress held in Amsterdam (www.crcd.eu/?p=2800) and in international journals, including a recent publication of the European Heart Journal [2, 3]. Clinical classification of RCDD takes into account major clinical symptoms and pathologies and is based on common clinical and/or anatomical features.
罕见病和失调是重要的临床问题。在规划这样一个异质患者群体的诊断和治疗过程时，医生有许多顾虑。这些关切不仅源于病例稀少，而且源于对罕见疾病和疾患患者管理知识方面的多重空白。在一般人口中，普遍接受的罕见疾病和失调患病率为每2 000人中有1人或更少。偶然流行和多重合并症导致无法在任何一个中心收集足够的经验。因此，合作和思想交流对罕见病患者的管理是重要的。罕见心血管疾病和障碍的分类对于扩大罕见心血管疾病和障碍领域的知识至关重要。它包括RCDD的概述，促进对患者的临床方法，并使注册表和数据库的创建更容易。我们希望最新的RCDD分类将通过对诊断和治疗进步的贡献来帮助医疗实践。它还总结了RCDD领域的科学成果。没有特定疾病的分组，很难创建诊断和治疗算法。RCDD的分类于2013年首次发表在Journal of Rare Cardiovascular Diseases (JRCD)上[1]。在阿姆斯特丹举行的2013年欧洲心脏病学会大会(www.crcd.eu/?p=2800)和国际期刊上讨论了RCDD分类，包括最近出版的《欧洲心脏杂志》[2,3]。RCDD的临床分类考虑了主要的临床症状和病理，并以共同的临床和/或解剖特征为基础。
{"title":"Clinical Classification of Rare Cardiovascular Diseases and Disorders: 2018 Update","authors":"P. Podolec, G. Kopeć, P. Rubis, J. Stępniewski, J. Podolec, M. Komar, L. Tomkiewicz-Pajak, A. Leśniak‑Sobelga, A. Kabłak-Ziembicka, P. Matusik","doi":"10.20418/JRCD.VOL3NO7.330","DOIUrl":"https://doi.org/10.20418/JRCD.VOL3NO7.330","url":null,"abstract":"Rare diseases and disorders constitute important clinical problems. There are many concerns among physicians while planning the diagnostic and treatment process of such a heterogenous group of patients. These concerns arise not only from the rarity of cases, but also from multiple gaps in knowledge on the management of patients with rare diseases and disorders. The commonly accepted prevalence of rare diseases and disorders is 1 per 2 000 in the general population or less. Incidental prevalence and multiplicity of comorbidities result in an inability to gather enough experience at any single centre. Thus, cooperation and the exchange of ideas is important for the management of patients with rare diseases. Classification of rare cardiovascular diseases and disorders (RCDD) is crucial for expanding knowledge in the field of RCDD. It consists of an overview of RCDD, facilitates clinical approaches to patients and makes the creation of registries and databases easier. We hope that the updated RCDD classification will aid medical practice through the contribution to progress in diagnostics and therapy. It also serves as a summary of scientific achievements in the field of RCDD. Without the grouping of specific disorders, it is very difficult to create diagnostic and therapeutic algorithms. The Classification of RCDD was published for the first time in the Journal of Rare Cardiovascular Diseases (JRCD) in 2013 [1]. RCDD classification was discussed during the 2013 European Society of Cardiology Congress held in Amsterdam (www.crcd.eu/?p=2800) and in international journals, including a recent publication of the European Heart Journal [2, 3]. Clinical classification of RCDD takes into account major clinical symptoms and pathologies and is based on common clinical and/or anatomical features.","PeriodicalId":37488,"journal":{"name":"Journal of Rare Cardiovascular Diseases","volume":"7 1","pages":"230"},"PeriodicalIF":0.0,"publicationDate":"2018-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89270852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-06-25DOI: 10.20418/JRCD.VOL3NO7.329
Marcin Kunecki, D. Gałuszka, Adrian Rybski, W. Płazak
Pneumothorax is defined as the occurrence of air in the pleural space. From a clinical standpoint, pneumothorax can be classified as spontaneous (without an obvious triggering factor) or nonspontaneous. Primary spontaneous pneumothorax (PSP) is defined as the spontaneous presence of air in the pleural space in patients without clinically apparent lung disease. We present a case of a 26‑year old man who reported chest pain at rest. A standard chest x‑ray (CXR) picture on inspiration did not reveal any severe pathology, but a second imaging on expiration showed a large pneumothorax. In this case, the pneumothorax would have been undetected if only the inspiratory CXR was used. Lung ultrasonography (USG) can be used to diagnose radio‑occult pneumothoraxes independent of the respiratory phase of the patient. JRCD 2018; 3 (7): 236–238
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