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1.
Heart Fail Clin ; 20(2): 223-236, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38462326

RESUMO

Heart failure in cyanotic congenital heart disease (CHD) is diagnosed clinically rather than relying solely on ventricular function assessments. Patients with cyanosis often present with clinical features indicative of heart failure. Although myocardial injury and dysfunction likely contribute to cyanotic CHD, the primary concern is the reduced delivery of oxygen to tissues. Symptoms such as fatigue, lassitude, dyspnea, headaches, myalgias, and a cold sensation underscore inadequate tissue oxygen delivery, forming the basis for defining heart failure in cyanotic CHD. Thus, it is pertinent to delve into the components of oxygen delivery in this context.


Assuntos
Cardiopatias Congênitas , Insuficiência Cardíaca , Humanos , Cardiopatias Congênitas/complicações , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/terapia , Cianose/etiologia , Oxigênio , Função Ventricular
2.
Pediatr Cardiol ; 45(3): 513-519, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38308060

RESUMO

Tissue hypoxia increases erythropoietin production and release of immature erythrocytes that can be measured using nucleated red blood cell counts (nRBC). We hypothesized that hypoxia due to congenital heart disease (CHD) is chronic and is better tolerated than hypoxia due to respiratory disease (RD), which is an acute stress in newborns leading to higher nRBC. This study assesses the utility of nRBC as a marker to differentiate hypoxia due to CHD vs RD in term neonates. This was a single-center, retrospective study of term neonates with cyanosis from 2015 to 2022. Neonates < 37 weeks of gestation, with hypoxic-ischemic encephalopathy, and those with other causes of cyanosis were excluded. The patients were divided into 2 groups: cyanotic CHD and cyanotic RD. Clinical and laboratory data done within 12 h and 24-36 h after birth were collected. Data are represented as median and Interquartile range. Of 189 patients with cyanosis, 80 had CHD and 109 had RD. The absolute nRBC count at ≤ 12 h of age was lower in the CHD (360 cells/mm3) compared to RD group (2340 cells/mm3) despite the CHD group having significantly lower baseline saturations. A value of 1070 cells/mm3 was highly sensitive and specific for differentiating CHD from RD. The positive predictive value for this cut-off value of 1070 cells/mm3 was 0.94 and the negative predictive value was 0.89. The absolute nRBC is a simple screening test and is available worldwide. A nRBC < 1070 cells/mm3 in cyanotic newborns should hasten the search for CHD etiology with the possible need for prostaglandin therapy.


Assuntos
Eritroblastos , Cardiopatias Congênitas , Recém-Nascido , Humanos , Estudos Retrospectivos , Contagem de Eritrócitos , Cianose/diagnóstico , Cianose/etiologia , Hipóxia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico
3.
Medicine (Baltimore) ; 103(8): e37203, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38394548

RESUMO

RATIONALE: Summarizing the perioperative nursing experience in the successful treatment of 4 neonates with critical pulmonary stenosis (CPS). PATIENT CONCERNS: Of the 4 patients, 3 had postnatal shortness of breath and varying degrees of cyanosis, aggravated by crying and noise, and 1 had no obvious shortness of breath and cyanosis. The preoperative auscultation of the precordial region could be heard 3-4/6 systolic murmur; echocardiography was diagnosed as CPS, combined with patent ductus arteriosus, right ventricular dysplasia, and severe tricuspid regurgitation. Four children were treated with prostaglandin 5 ng/(kg-min) to maintain a certain degree of pulmonary blood flow to improve hypoxemia, effectively preventing ductus arteriosus from closure, and the infusion was discontinued 2 hours prior to the operation. Three of the children required ventilator-assisted respiration to relieve severe hypoxia and correct acidosis before surgery. DIAGNOSIS: Neonatal CPS was diagnosed. INTERVENTIONS: Four neonates with rapidly developing conditions were admitted to the hospital, a multidisciplinary in-hospital consultation was organized immediately, and a multidisciplinary collaborative team was set up, consisting of medical doctors and nurses from the medical department, the neonatal intensive care unit, cardiovascular medicine, cardiac ultrasound room, anesthesiology department, and radiology and interventional medicine department. The multidisciplinary team evaluated the treatment modality of the children and finally decided to perform percutaneous balloon pulmonary valvuloplasty. The surgical team included specialists from the Department of Cardiovascular Medicine, Department of Interventional Radiology, Cardiac Ultrasound Unit, and Department of Anesthesiology. OUTCOMES: All 4 neonates were successfully operated and discharged from the hospital. Multidisciplinary follow-up interventions were carried out 1 year after discharge, and the children were in good condition. LESSONS: The specialty nursing-led multidisciplinary collaboration model significantly improves the professional competence of nurses from various specialties, promotes the integration and development of multispecialty disciplines, and provides better quality services for children, which is the key to improving the success rate of percutaneous balloon pulmonary valvuloplasty in neonates.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Permeabilidade do Canal Arterial , Estenose da Valva Pulmonar , Recém-Nascido , Criança , Humanos , Estenose da Valva Pulmonar/cirurgia , Assistência Perioperatória , Cianose , Dispneia
4.
Zhonghua Yi Xue Za Zhi ; 104(3): 218-221, 2024 Jan 16.
Artigo em Chinês | MEDLINE | ID: mdl-38220448

RESUMO

The clinical characteristics, auxiliary examinations, skin and neuropathological features of 7 patients who had reticular cyanosis with peripheral neuropathy from the Department of Neurology, Huashan Hospital, Fudan University from January 2019 to December 2022 were retrospectively analyzed. Among the 7 patients, 5 were female and 2 were male.The age of onset of peripheral neuropathy was (39.8±21.3) years and the disease duration of peripheral neuropathy was (2.7±2.3) years. Three patients had acute onset and 4 patients had chronic onset. All the patients had limb numbness, with limb weakness in 6 patients and pain in 5 cases. Neuroelectrophysiological examination revealed 1 case of mononeuropathy, 2 cases of polyneuropathy, 2 cases of peripheral neuropathy, and 2 cases of sensory neuron neuropathy. Skin biopsy was performed in 3 patients, which presented hyperplasia and expansion of blood vessels in the dermis with lymphocyte infiltration. Nerve biopsy was performed in 3 patients, indicating axonal damage. Reticular cyanosis with peripheral neuropathy characterizes with numbness and weakness of limbs, most of which were accompanied by pain. Electrophysiological changes are in various forms. The pathological changes are dominated by the damage of axonal.


Assuntos
Livedo Reticular , Doenças do Sistema Nervoso Periférico , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Cianose/complicações , Hipestesia/complicações , Livedo Reticular/complicações , Dor , Estudos Retrospectivos
5.
Cardiol Young ; 34(1): 145-150, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37254574

RESUMO

OBJECTIVE: It is often assumed, that adult patients with CHD (ACHD) have impairments regarding their cognitive function (CF) and health-related quality of life. In particular, it seems reasonable to assume that cyanosis may have a potential impact on CF as well as surgical or drug treatment into adulthood. This study assesses neuromental health aspects such as CF and health-related quality of life in ACHD patients. METHODS: Seventy-eight ACHD patients (female n = 39 (50%); 34.1 ± 12.9 years; cyanotic CHD n = 49 (62.8%) with a cyanosis duration of 159.8 ± 196.2 month) who underwent open heart surgery as first intervention were asked to participate during routinely follow-up in 2018. Wechsler Intelligence Scale IV was used for CF and the Short Form 36 Health Survey to assess health-related quality of life. RESULTS: Intelligence quotient measures showed significant differences comparing never cyanotic and with a cyanotic phase in verbal comprehension (p = 0.013). There was no association of CF with cyanosis duration, number of surgery or catheter, CHD severity, and time of first surgery. The group of early surgery showed significantly better results in physical function (p = 0.040) of health-related quality of life, and in comparison with their assigned reference, both groups showed significantly reduced results in all domains except in bodily pain and mental health. Full-Scale intelligence quotient correlates with physical function of health-related quality of life. CONCLUSIONS: The results show normal CF in ACHD. Health-related quality of life was weak in comparison with the reference. There is a need to improve the well-being of our ACHD with structured programmes, including physical activity programmes. This growing ACHD population should be focused in order of their needs, medical ones on one hand and on the other hand psychosocial matters.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas , Adulto , Humanos , Feminino , Masculino , Qualidade de Vida/psicologia , Ponte Cardiopulmonar , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Cianose/complicações
6.
Trop Doct ; 54(1): 39-41, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37807706

RESUMO

Acute diarrhoeal illness remains a common medical problem in children with nearly 1.7 billion cases globally every year. We report five infants who, following severe diarrhoea, developed methaemoglobinemia. This is an altered state of haemoglobin presenting with cyanosis and can pose a diagnostic dilemma. It should be suspected in young infants without cyanotic heart disease presenting with severe diarrhoea, sepsis and cyanosis disproportionate to their clinical status. Its outcome depends on prompt treatment, the severity of underlying sepsis and co-morbidity.


Assuntos
Metemoglobinemia , Sepse , Lactente , Criança , Humanos , Metemoglobinemia/complicações , Metemoglobinemia/diagnóstico , Metemoglobinemia/terapia , Diarreia/diagnóstico , Diarreia/etiologia , Cianose/etiologia , Cianose/complicações , Sepse/complicações
8.
Cardiol Young ; 34(3): 634-636, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37694527

RESUMO

Partial anomalous venous connection with sinus venosus atrial septal defect is repaired with different approaches including the Warden procedure. Complications include stenosis of the superior caval vein and pulmonary venous baffle; however, cyanosis is rarely seen post-operatively. We report a patient presenting with cyanosis 5 years after a Warden, which was treated with a transcatheter approach.


Assuntos
Comunicação Interatrial , Veia Cava Superior , Humanos , Hipóxia/etiologia , Hipóxia/terapia , Cianose/etiologia , Constrição Patológica , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/cirurgia
9.
Pediatr Dermatol ; 41(1): 46-50, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38014569

RESUMO

BACKGROUND: Bier anemic spots, cyanosis with urticaria-like eruption (BASCULE) syndrome is a recently described entity with episodic urticarial lesions and white anemic halos on a background of erythrocyanosis, commonly affecting the lower extremities. Possible association with autonomic dysfunction remains poorly understood. Existing publications are limited, but the condition is suggested as highly underrecognized. OBJECTIVE: To further characterize clinical and epidemiologic data for BASCULE syndrome. METHODS: We performed an IRB-approved retrospective chart review on patients with BASCULE syndrome evaluated at Mayo Clinic from April 2021 to November 2022. RESULTS: A total of 17 patients were identified (13 female, 4 male). Median age of onset was 12 years (range 9-17). Lower extremities were involved in all patients (17). Most patients were symptomatic with pruritus (8) or burning pain (8); three were asymptomatic. Triggers were standing (11), hot showers or hot environments (7), or no clear trigger (4). Autonomic dysfunction was present in 10 patients. Treatment responses were observed from propranolol (3) and high-dose cetirizine (1). CONCLUSION: Novel epidemiologic data from 17 pediatric and young adult patients with BASCULE syndrome further supports an association with autonomic dysfunction and suggests a higher prevalence than previously acknowledged.


Assuntos
Doenças do Sistema Nervoso Autônomo , Exantema , Urticária , Adulto Jovem , Humanos , Masculino , Feminino , Criança , Adolescente , Estudos Retrospectivos , Urticária/diagnóstico , Urticária/tratamento farmacológico , Urticária/epidemiologia , Síndrome , Cianose
10.
Zhonghua Er Ke Za Zhi ; 62(1): 71-75, 2024 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-38154981

RESUMO

Objective: To summarize the clinical features and prognosis of Budd-Chiari syndrome with hepatopulmonary syndrome (HPS) in children. Methods: The clinical data of a child who had Budd-Chiari syndrome with HPS treated at the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in December 2016 was analyzed retrospectively. Taking "Budd-Chiari syndrome" and "hepatopulmonary syndrome" in Chinese or English as the keywords, literature was searched at CNKI, Wanfang, China Biomedical Literature Database and PubMed up to July 2023. Combined with this case, the clinical characteristics, diagnosis, treatment and prognosis of Budd-Chiari syndrome with HPS in children under the age of 18 were summarized. Results: A 13-year-old boy, presented with cyanosis and chest tightness after activities for 6 months, and yellow staining of the skin for 1 week. Physical examination at admission not only found mild yellow staining of the skin and sclera, but also found cyanosis of the lips, periocular skin, and extremities. Laboratory examination showed abnormal liver function with total bilirubin 53 µmol/L, direct bilirubin 14 µmol/L, and indirect bilirubin 39 µmol/L, and abnormal blood gas analysis with the partial pressure of oxygen of 54 mmHg (1 mmHg=0.133 kPa), the partial pressure of carbon dioxide of 31 mmHg, and the alveolar-arterial oxygen gradient of 57 mmHg. Hepatic vein-type Budd-Chiari syndrome, cirrhosis, and portal hypertension were indicated by abdominal CT venography. Contrast-enhanced transthoracic echocardiography (CE-TTE) was positive. After symptomatic and supportive treatment, this patient was discharged and received oxygen therapy outside the hospital. At follow-up until March 2023, there was no significant improvement in hypoxemia, accompanied by limited daily activities. Based on the literature, there were 3 reports in English while none in Chinese, 3 cases were reported. Among a total of 4 children, the chief complaints were dyspnea, cyanosis, or hypoxemia in 3 cases, and unknown in 1 case. There were 2 cases diagnosed with Budd-Chiari syndrome with HPS at the same time due to respiratory symptoms, and 2 cases developed HPS 1.5 years and 8.0 years after the diagnosis of Budd-Chiari syndrome respectively. CE-TTE was positive in 2 cases and pulmonary perfusion imaging was positive in 2 cases. Liver transplantation was performed in 2 cases and their respiratory function recovered well; 1 case received oxygen therapy, with no improvement in hypoxemia; 1 case was waiting for liver transplantation. Conclusions: The onset of Budd-Chiari syndrome with HPS is insidious. The most common clinical manifestations are dyspnea and cyanosis. It can reduce misdiagnosis to confirm intrapulmonary vascular dilatations with CE-TTE at an early stage. Liver transplantation is helpful in improving the prognosis.


Assuntos
Síndrome de Budd-Chiari , Síndrome Hepatopulmonar , Masculino , Humanos , Criança , Adolescente , Síndrome de Budd-Chiari/complicações , Síndrome de Budd-Chiari/diagnóstico , Síndrome de Budd-Chiari/terapia , Síndrome Hepatopulmonar/complicações , Síndrome Hepatopulmonar/diagnóstico , Síndrome Hepatopulmonar/terapia , Estudos Retrospectivos , Hipóxia/complicações , Oxigênio , Dispneia/complicações , Cianose/complicações , Bilirrubina
11.
J Infect Dev Ctries ; 17(10): 1401-1406, 2023 10 31.
Artigo em Inglês | MEDLINE | ID: mdl-37956375

RESUMO

INTRODUCTION: The clinical manifestation of coronavirus disease 2019 (COVID-19) infection in newborns varies from asymptomatic infection to severe illness. Apnea or cyanosis as the earliest symptoms is rarely mentioned. The aim of this study is to describe the characteristics of newborns with COVID-19 infection admitted to the neonatal intensive care unit considering cyanosis or apnea as a form of presentation. METHODOLOGY: This is a descriptive observational study with retrospectively collected data. All neonates under 30 days old and preterm infants with corrected gestational age of 44 weeks who had confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection with a positive antigen or reverse transcriptase polymerase chain reaction (RT-PCR) test and who were attended to between March 2020 and March 2022 were included. RESULTS: During the two years of the study, 410 patients were admitted to the neonatal unit. Twenty-six patients (6.3%) presented with confirmed SARS-CoV-2 infection. The main clinical characteristic at admission was apnea in 55% and cyanosis in 45%. Of the 11 patients admitted with this presentation, eight were diagnosed with COVID-19 acute upper respiratory disease, and three met the definition of COVID-19 bronchiolitis. A large proportion of the patients had a mild infection (65%, n = 17), 31% (n = 8) had a severe infection and only one patient had a critical infection, accounting for 4%. CONCLUSIONS: Apnea and cyanosis can be a manifestation of SARS-CoV-2 infection in newborns, which suggests the need to include it in the diagnostic workup as other viral respiratory infections.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Humanos , Recém-Nascido , Apneia/diagnóstico , Apneia/etiologia , COVID-19/diagnóstico , Cianose/etiologia , Recém-Nascido Prematuro , Estudos Retrospectivos , SARS-CoV-2
12.
Free Radic Res ; 57(6-12): 470-486, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38000042

RESUMO

Oxidative stress is an important pathophysiological mechanism in the development of numerous cardiovascular disorders. To improve therapy and preventive strategies, clinicians need a better understanding of the underlying pathophysiological mechanisms of congenital heart diseases (CHD). The objective of this meta-analysis was to determine whether oxidative stress is elevated in patients with CHD compared to healthy controls, and to evaluate whether a difference in oxidative stress parameters can be observed between patients with cyanotic (cCHD) and acyanotic CHD (aCHD). Therefore, 21 studies investigating oxidative stress in peripheral blood of both children and adults with CHD were reviewed. Different methods to assess the oxidant status were compared and divided into three categories: pro-oxidative or anti-oxidative stress markers and the ratio of pro-to-anti oxidative stress markers. This meta-analysis showed elevated oxidative stress levels in patients with CHD, and more specifically in patients with cCHD. Moreover, this indicates that there could be potential in oxidative stress measurements as a new biomarker of disease severity. Further research will be needed to clarify the exact role of oxidative stress and its contributors in CHD in order to get a better and more in-depth understanding of the underlying pathophysiology of CHD, especially the higher susceptibility of the right ventricle (RV) to progress to heart failure (HF). This could facilitate the development of antioxidant treatments and RV-specific HF therapies, which are necessary to improve survival in these patients and could be of particular importance in cCHD.


Assuntos
Cardiopatias Congênitas , Insuficiência Cardíaca , Criança , Adulto , Humanos , Estresse Oxidativo , Antioxidantes/metabolismo , Oxidantes , Cianose
13.
Ann Card Anaesth ; 26(4): 461-463, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37861587

RESUMO

Although complex congenital heart disease (CHD) patients usually present in childhood, it is not rare to see adults well past middle age. These patients undergo continuous pathophysiological changes in their heart and blood vessels, making anesthetic management more challenging if surgery is required. Herein, we report a case in which understanding the anatomy and pathophysiology helped optimally manage a patient with a double outlet right ventricle (DORV) who underwent plating and fixation for a hangman's fracture in the prone position.


Assuntos
Dupla Via de Saída do Ventrículo Direito , Cardiopatias Congênitas , Adulto , Pessoa de Meia-Idade , Humanos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Coração , Dupla Via de Saída do Ventrículo Direito/complicações , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/cirurgia , Cianose , Vértebras Cervicais/cirurgia
14.
Cardiol Young ; 33(11): 2148-2156, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37850475

RESUMO

Pulmonary reperfusion injury is a well-recognised clinical entity in the setting pulmonary artery angioplasty for pulmonary artery stenosis or chronic thromboembolic disease, but not much is known about this complication in post-palliative intervention of oligaemic cyanotic CHD. The pathophysiology of pulmonary reperfusion injury in this population consists of both ischaemic and reperfusion injury, mainly resulting in oxidative stress from reactive oxygen species generation, followed by endothelial dysfunction, and cytokine storm that may induce multiple organ dysfunction. Other mechanisms of pulmonary reperfusion injury are "no-reflow" phenomenon, overcirculation from high pressure in pulmonary artery, and increased left ventricular end-diastolic pressure. Chronic hypoxia in cyanotic CHD eventually depletes endogenous antioxidant and increased the risk of pulmonary reperfusion injury, thus becoming a concern for palliative interventions in the oligaemic subgroup. The incidence of pulmonary reperfusion injury varies depending on multifactors. Despite its inconsistence occurrence, pulmonary reperfusion injury does occur and may lead to morbidity and mortality in this population. The current management of pulmonary reperfusion injury is supportive therapy to prevent deterioration of lung injury. Therefore, a general consensus on pulmonary reperfusion injury is necessary for the diagnosis and management of this complication as well as further studies to establish the use of novel and potential therapies for pulmonary reperfusion injury.


Assuntos
Lesão Pulmonar , Traumatismo por Reperfusão , Humanos , Traumatismo por Reperfusão/etiologia , Traumatismo por Reperfusão/prevenção & controle , Cianose/cirurgia , Estresse Oxidativo , Hipóxia/etiologia , Hipóxia/terapia
15.
Cardiol Young ; 33(12): 2685-2689, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37877253

RESUMO

The aetiology of cyanosis could be unclear in children, even for specialised paediatricians. Two cases were reported: first, a 6-year-old child with features of left isomerism and Fallot was fortuitously diagnosed with anomalous hepatic venous drainage before complete repair. Second, a newborn with an antenatal diagnosis of ductus venosus agenesis had an isolated intermittent right-to-left atrial shunt when upright, with favourable outcome, in contrast to the association with significant heart malformations including inferior caval vein interruption. Multimodality imaging and 3D printing helped to rule out extracardiac causes of persistent cyanosis and plan surgical repair.


Assuntos
Síndrome de Heterotaxia , Veias Pulmonares , Malformações Vasculares , Criança , Recém-Nascido , Humanos , Feminino , Gravidez , Síndrome de Platipneia Ortodeoxia , Cianose/diagnóstico , Cianose/etiologia , Síndrome de Heterotaxia/complicações , Dispneia/complicações , Veias Pulmonares/anormalidades , Malformações Vasculares/complicações
16.
Rinsho Shinkeigaku ; 63(11): 743-747, 2023 Nov 23.
Artigo em Japonês | MEDLINE | ID: mdl-37880116

RESUMO

The patient is a 44-year-old man. His parents are consanguineous. He experienced muscle weakness in his toe and distal tingling sensation in his feet at 42 years of age, which gradually progressed. Additionally, a marked cyanotic discoloration of the feet appeared and worsened progressively. Neurological examination revealed loss of tendon reflexes and distal muscle weakness in the lower extremities. Findings from nerve conduction studies indicated axonal polyneuropathy. Upon detection of the MME gene mutation, the patient was diagnosed with autosomal-recessive Charcot-Marie-Tooth disease 2T (ARCMT2T). In this case, cyanosis of the lower extremities possibly was associated with ARCMT2T, and it was suggested to be due to neprilysin deletion linked with the MME mutation. This represents the first documented occurrence of cyanosis as a distinctive feature of CMT with MME mutation.


Assuntos
Doença de Charcot-Marie-Tooth , Masculino , Humanos , Adulto , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Doença de Charcot-Marie-Tooth/complicações , Neprilisina/genética , Mutação , Debilidade Muscular/complicações , Linhagem , Fenótipo , Cianose/complicações
17.
J Pak Med Assoc ; 73(8): 1720-1722, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37697770

RESUMO

Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid. This case demonstrated that EIMFS is a grave infantile epileptic encephalopathy which is refractory to anti epileptic drugs and can present with a wide spectrum of neurogenic and cardiogenic symptoms.


Assuntos
Epilepsia , Convulsões , Lactente , Masculino , Humanos , Convulsões/etiologia , Ácido Valproico/uso terapêutico , Cianose , Canais de Potássio , Canais de Potássio Ativados por Sódio/genética , Proteínas do Tecido Nervoso
18.
Echocardiography ; 40(11): 1269-1275, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37632152

RESUMO

Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease (CHD) in infants. The four components that constitute ToF are an overriding aorta over the crest of the interventricular septum, obstruction in the right ventricular outflow tract, right ventricular hypertrophy, and a typically large non-restricted ventricular septal defect. ToF may also be associated with other extracardiac abnormalities, including patent ductus arteriosus or multiple aortopulmonary collateral arteries, which can impact the patient's survival. Patients with unoperated ToF rarely reach adulthood, and it is extremely rare to discover undiagnosed ToF in individuals over 60 years old. In this report, we describe an unusual case of a woman with unrepaired ToF who survived until the age of 71. She was fairly asymptomatic until the 7th decade of her life and complained only of dyspnea on exertion. The patient declined corrective cardiac surgery and preferred conservative management.


Assuntos
Permeabilidade do Canal Arterial , Tetralogia de Fallot , Idoso , Feminino , Humanos , Cianose/etiologia , Permeabilidade do Canal Arterial/complicações , Dispneia/etiologia , Hipertrofia Ventricular Direita , Tetralogia de Fallot/complicações , Tetralogia de Fallot/diagnóstico por imagem
19.
Ned Tijdschr Geneeskd ; 1672023 08 16.
Artigo em Holandês | MEDLINE | ID: mdl-37609929

RESUMO

Feeding problems in children are usually harmless and common, but can rarely exist as a result of pathology. Heart failure is one of them and has to be recognized early because of its many consequences. We present a 15-week-old female infant who was seen at the outpatient clinic. She had already been evaluated several times by a youth doctor and general practitioner because of feeding problems and transpiration, for which several nutritional interventions had already been carried out. With no effect of nutritional interventions she was referred to a pediatrician. Physical examination showed clear signs of heart failure and echocardiogram showed a severe dilation of the left ventricle, with poor contractility of the lateral wall and papillary muscle, with end stage heart failure due to an Anomalous Left Coronary Artery from the Pulmonary Artery (ALPACA). In this article we discuss the clinical presentation of heart failure: stagnant growth, exercise intolerance, tachypnea and sometimes hepatomegaly, edema, murmurs or cyanosis. In addition, when a patient does not respond to initial therapy, we recommend to reconsider differential diagnosis and/or refer to a pediatrician.


Assuntos
Insuficiência Cardíaca , Lactente , Adolescente , Humanos , Criança , Feminino , Pré-Escolar , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/etiologia , Instituições de Assistência Ambulatorial , Cianose , Diagnóstico Diferencial , Ecocardiografia
20.
Blood Purif ; 52(9-10): 835-843, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37640010

RESUMO

INTRODUCTION: Hemodialysis uses municipal water that must be strictly purified and sterilized to be used for that procedure. Large amounts of decontaminants are often used, such as chlorine, and if these compounds are not subsequently removed they can be transferred to the blood of patients causing complications including methemoglobinemia. METHODS: In this case series study, dialysis patients in one unit were evaluated. We reviewed clinical characteristics and laboratory findings obtained on the day when the water supply was disinfected with chlorine, with the aim to quantify methemoglobin concentrations. Our objective was to characterize the clinical presentation and management of patients who presented with methemoglobinemia on a specific index day. We also reviewed reported cases in the literature regarding this underreported complication. RESULTS: Eight patients who presented with chlorine intoxication were evaluated. The methemoglobin concentrations were between 1.3% and 7.9% (reference value 0-1%). We believe this to be caused by water containing 0.78 mg/L of total chlorine. Seven patients presented with cyanosis, 4 with dizziness, 6 with dark brown blood, 4 with dyspnea, and 4 with headache and hemolytic anemia. Subjects were treated with supplemental oxygen, methylene blue, intravenous vitamin C, blood transfusions, and increased doses of erythropoietin. No patient died, and all continued with their usual hemodialysis sessions. CONCLUSION: Acute chlorine intoxication transferred by the water used during hemodialysis sessions can present with methemoglobinemia accompanied by cyanosis, oxygen desaturation, and hemolytic anemia. Chlorine levels should be carefully monitored in the water used for hemodialysis treatment.


Assuntos
Anemia Hemolítica , Metemoglobinemia , Humanos , Metemoglobinemia/induzido quimicamente , Metemoglobinemia/terapia , Metemoglobina/uso terapêutico , Cloro/toxicidade , Diálise Renal/efeitos adversos , Cianose/complicações , Cloretos , Anemia Hemolítica/complicações , Oxigênio , Água
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