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INTRODUCTION: Hodgkin lymphoma (HL) is one of the most common types of cancers of the lymphatic system. The currently available therapies enable a cure in approximately 80-85% of treated patients. However, the cardiotoxicity of HL treatment has become a major cause of morbidity and mortality in survivors mainly related to the use of anthracycline. CASE REPORT: An HL, staged IIIB, was diagnosed in a 60-year-old man with no cardiovascular disease. During the first cycle of ABVD chemotherapy (Adriamycin; bleomycin; vinblastine; dacarbazine), near the end of the dacarbazine infusion, the patient presented a sudden cardiogenic shock characterized by a severe left ventricular systolic dysfunction. Laboratory and instrumental examinations performed did not suggest any specific etiology. After 15 days of medical support, the patient presented a complete cardiac function and clinical recovery. Subsequently bendamustine chemotherapy was started because of its limited extrahematological toxicity, but after 4 cycles the patient had progressive disease and died of septic shock. We concluded that a very rare hyperacute anthracycline cardiotoxicity was the most likely reason for this critical scenario. CONCLUSIONS: This rare event stresses our inability to correctly predict the risk of a patient developing cardiotoxicity and also highlights the need to improve the knowledge of underlying pathophysiological mechanisms; in fact, it suggests a possible genetic predisposition to develop cardiotoxicity due to a relatively limited dosage.
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Antraciclinas/efeitos adversos , Antineoplásicos/efeitos adversos , Doença de Hodgkin/tratamento farmacológico , Choque Cardiogênico/induzido quimicamente , Antraciclinas/administração & dosagem , Antineoplásicos/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Evolução Fatal , Doença de Hodgkin/complicações , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Medição de RiscoRESUMO
Background: Danon disease (DD) is a rare X-linked disorder due to mutations in the lysosome-associated membrane protein 2 gene. It is characterized by a clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and a variable degree of intellectual disability. Case summary: In this case series, we describe a mother and her son affected by DD, highlighting consistent clinical severity despite the expected variability related to gender. The mother (Case 1) presented isolated cardiac involvement, with an arrhythmogenic phenotype that evolved into severe heart failure requiring heart transplantation (HT). Danon disease was diagnosed 1 year after this event. Her son (Case 2) showed an earlier age onset of symptoms with complete atrioventricular block and fast progression of cardiac disease. Diagnosis was established 2 years after clinical presentation. He is currently listed for HT. Discussion: In both of our patients, diagnostic delay was extremely long and could have been avoided by emphasizing the relevant clinical red flags. Patients affected by DD may present clinical heterogeneity in terms of natural history, age of onset, and cardiac and extracardiac involvement, even in the same family. Early diagnosis that phenotypic sex differences may impact is a crucial factor in managing patients with DD. Considering the rapid progression of cardiac disease and the poor prognosis, early diagnosis is important and close surveillance should be mandatory during follow-up.
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Cardiomyopathies (CMPs) are primary disorders of myocardial structure and function in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease. Knowledge of the incidence and prevalence of CMPs may help clinicians to compare their observations in clinical practice with expected cases per person-year and to avoid under-reporting in clinical context. Currently, available estimates of prevalence and incidence of CMPs are based on clinical data, collected with a wide variability in population-source, and before the genetic testing evolved as a standard diagnostic tool. This review focuses on the epidemiology of CMPs in subjects aged between 18 and 55 years. A structured up-to-date diagnostic flow-chart for CMPs diagnosis and assessment is proposed to avoid misdiagnosis of CMPs in the young population and in subjects with unexplained cardiac disorders.
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Cardiomiopatias , Cardiopatias Congênitas , Hipertensão , Adolescente , Adulto , Cardiomiopatias/diagnóstico , Cardiomiopatias/epidemiologia , Cardiomiopatias/genética , Humanos , Incidência , Pessoa de Meia-Idade , Prevalência , Adulto JovemRESUMO
The purpose of this study was to assess whether metabolomics, associated with echocardiography, was able to highlight pathophysiological differences between obstructive (OHCM) or non-obstructive (NOHCM) hypertrophic cardiomyopathy. Thirty-one HCM patients underwent standard and advanced echocardiography; a plasma sample was collected for metabolomic analysis. Results. Patients with OHCM compared with subjects with NOHCM had higher values of 2DLVEF (66.5 ± 3.3% vs. 60.6 ± 1.8%, p < 0.01), S wave (7.6 ± 1.1 vs. 6.3 ± 0.7 cm/s, p < 0.01) and 3D global longitudinal strain (17.2 ± 4.2%, vs. 13.4 ± 1.3%, p < 0.05). A 2-group PLS-Discriminant Analysis was performed to verify whether the two HCM groups differed also based on the metabolic fingerprint. A clear clustering was shown (ANOVA p = 0.014). The most discriminating metabolites resulted as follows: in the NOHCM Group, there were higher levels of threitol, aminomalonic acid, and sucrose, while the OHCM Group presented higher levels of amino acids, in particular those branched chains, of intermediates of glycolysis (lactate) and the Krebs cycle (fumarate, succinate, citrate), of fatty acids (arachidonic acid, palmitoleic acid), of ketone bodies (2-OH-butyrate). Our data point out a different systolic function related to a specific metabolic activity in the two HCM phenotypic forms, with specific metabolites associated with better contractility in OHCM.
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AIMS: We aim to describe one of the longest longitudinal follow-ups reported so far (>22 years), concerning a whole family affected by a missense lamin A/C mutation (Arg60Gly), which manifested as an overlapping phenotype with cardiac and extracardiac involvement over time. METHODS: Starting from the family history, two generations of that family were prospectively observed, from 1997 until 2020. At baseline, four individuals with dilated cardiomyopathy and cardiac conduction defects showed the same mutation. This was also found in three young individuals, phenotypically unaffected at baseline assessment. RESULTS: The prolonged clinical and laboratory evaluation has shown the evolution of an overlapping phenotype in which cardiac alterations have been associated with lipodystrophy and neurological manifestations. In the first observed generation, the prognosis was negatively affected by the progression of heart failure and lipodystrophy, whereas in the second generation the first phenotypic manifestations became evident after the 2nd decade. Cardiac magnetic resonance played a relevant role in the early detection of cardiac alteration. Right bundle branch block was another sign of initial phenotypical expression. CONCLUSION: In lamin A/C gene mutation carriers, a strict, multidisciplinary follow-up allows the opportunity to monitor the progress of the disease and to intervene precociously with the best available treatments.
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Cardiomiopatia Dilatada/genética , Lamina Tipo A/genética , Mutação de Sentido Incorreto , Adulto , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/fisiopatologia , Cardiomiopatia Dilatada/terapia , Progressão da Doença , Feminino , Predisposição Genética para Doença , Hereditariedade , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Prognóstico , Estudos Prospectivos , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: Complications, such as secondary hypertension, probably related to the loss of arterial elasticity, frequently arise in Cushing's syndrome, and may persist even beyond cure. This study aimed at demonstrating that arterial compliance, evaluated by automated recording of the QKd interval, was lower in children after a successful surgery for Cushing's syndrome than in a control group of healthy subjects. METHODS: In all, 23 young girls aged between 11 and 18 years who had undergone a surgical cure for Cushing syndrome - 18 with a pituitary adenoma, three with a primary adrenal disease, and two suffering from ectopic adrenocorticotrope hormone secretion - were enrolled. Arterial stiffness was measured by the standardised non-invasive QKd 100-60 method. A 24-hour ambulatory blood pressure monitoring and a transthoracic echocardiography were also performed. RESULTS: The children operated for Cushing's syndrome showed disadvantageous differences in 24-hour ambulatory blood pressure monitoring and in QKD 100-60 value, with p less than 0.01, compared with the control group. CONCLUSIONS: In spite of its successful surgical cure, Cushing's syndrome results in a significantly decreased arterial distensibility when compared with the control group, which might explain these differences in blood pressure levels. It underlines a significantly higher cardiovascular risk, notwithstanding both the normalisation of cortisol secretion and the very early age of the patients.
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Artérias/fisiopatologia , Síndrome de Cushing/fisiopatologia , Adolescente , Pressão Sanguínea , Monitorização Ambulatorial da Pressão Arterial , Criança , Síndrome de Cushing/cirurgia , Síndrome de Cushing/urina , Ecocardiografia , Elasticidade , Eletrocardiografia , Feminino , Frequência Cardíaca , Humanos , Hidrocortisona/sangueRESUMO
Treatment of chronic diseases, such as heart failure, requires complex protocols based on early diagnosis; self-monitoring of symptoms, vital signs and physical activity; regular medication intake; and education of patients and caregivers about relevant aspects of the disease. Smartphones and mobile health applications could be very helpful in improving the efficacy of such protocols, but several barriers make it difficult to fully exploit their technological potential and produce clear clinical evidence of their effectiveness. App suppliers do not help users distinguish between useless/dangerous apps and valid solutions. The latter are few and often characterised by rapid obsolescence, lack of interactivity and lack of authoritative information. Systematic reviews can help physicians and researchers find and assess the 'best candidate solutions' in a repeatable manner and pave the way for well-grounded and fruitful discussion on their clinical effectiveness. To this purpose, the authors assess 10 apps for heart failure self-care using the Intercontinental Marketing Statistics score and other criteria, discuss the clinical effectiveness of existing solutions and identify barriers to their use in practice and drivers for change.
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Acute heart failure (AHF) represents a relevant burden for emergency departments worldwide. AHF patients have markedly worse long-term outcomes than patients with other acute cardiac diseases (e.g. acute coronary syndromes); mortality or readmissions rates at 3 months approximate 33%, whereas 1-year mortality from index discharge ranges from 25% to 50%.The multiplicity of healthcare professionals acting across the care pathway of AHF patients represents a critical factor, which generates the need for integrating the different expertise and competence of general practitioners, emergency physicians, cardiologists, internists, and intensive care physicians to focus on care goals able to improve clinical outcomes.This consensus document results from the cooperation of the scientific societies representing the different healthcare professionals involved in the care of AHF patients and describes shared strategies and pathways aimed at ensuring both high quality care and better outcomes. The document describes the patient journey from symptom onset to the clinical suspicion of AHF and home management or referral to emergency care and transportation to the hospital, through the clinical diagnostic pathway in the emergency department, acute treatment, risk stratification and discharge from the emergency department to ordinary wards or home. The document analyzes the potential role of a cardiology fast-track and Observation Units and the transition to outpatient care by general practitioners and specialist heart failure clinics.The increasing care burden and complex problems generated by AHF are unlikely to be solved without an integrated multidisciplinary approach. Efficient networking among emergency departments, intensive care units, ordinary wards and primary care settings is crucial to achieve better outcomes. Thanks to the joint effort of qualified scientific societies, this document aims to achieve this goal through an integrated, shared and applicable pathway that will contribute to a homogeneous care management of AHF patients across the country.
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Procedimentos Clínicos , Serviço Hospitalar de Emergência/normas , Insuficiência Cardíaca/terapia , Doença Aguda , Humanos , Itália , Alta do Paciente , Transferência de Pacientes/normas , Guias de Prática Clínica como AssuntoRESUMO
BACKGROUND: The clinical course of patients with hypertrophic cardiomyopathy and advanced heart failure (HF) subtended by progressive left ventricular dysfunction has received limited attention. Our aim was to assess the outcome of HF and impact of treatment options including the implantable cardioverter-defibrillator and heart transplantation (HT) in patients with hypertrophic cardiomyopathy evaluated at 2 Italian referral centers >3 decades. METHODS AND RESULTS: All-cause mortality and a combined end point including death, HT, or appropriate implantable cardioverter-defibrillator shock were assessed in 71 consecutive patients with HF not related to outflow obstruction (7% of the entire hypertrophic cardiomyopathy cohort) followed up for 6.1±6.9 years after development of New York Heart Association class III to IV symptoms. At enrollment, left ventricular ejection fraction was <50% in 55 patients and >50% in 16; all had restrictive left ventricular filling. During follow-up, 35 patients died (49%%; 5-year rate, 49%) and 53 met the combined end point (75%; 5-year rate, 62%). Most events occurred in the 3 years after HF onset (17% per year compared with only 3% per year subsequently). Appropriate implantable cardioverter-defibrillator shocks occurred in 11 of 34 implanted patients. Of 37 patients evaluated for HT, 14 were transplanted, 10 listed, and 13 excluded; 2 early post-HT deaths occurred in patients with elevated pulmonary vascular resistance. Eleven of the 14 HT patients were alive at 10±8 years. CONCLUSIONS: In hypertrophic cardiomyopathy, advanced HF not associated with outflow obstruction portends a severely unfavorable prognosis, particularly in the first 3 years after onset of symptoms, despite frequently preserved systolic function in about one quarter of the patients. Outcome of HT is favorable but requires early consideration, as the window of opportunity may be short.
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Cardiomiopatia Hipertrófica/complicações , Desfibriladores Implantáveis , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/terapia , Transplante de Coração , Disfunção Ventricular Esquerda/complicações , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/mortalidade , Estudos de Coortes , Feminino , Insuficiência Cardíaca/diagnóstico , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Volume Sistólico , Resultado do Tratamento , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/mortalidadeRESUMO
BACKGROUND: Reverse remodeling and increased LVEF after CRT correlate with survival and heart failure hospitalizations, but their relationship with the risk of SCD is unclear. We aimed to evaluate whether exceeding a threshold value of 35% for left ventricular ejection fraction (LVEF) 1 year after cardiac resynchronization therapy (CRT) predicts survival and freedom from sudden cardiac death (SCD). METHODS: 330 patients who survived ≥ 6 months after CRT (males 80%, age 62 ± 11 years) were grouped according to 1-year LVEF ≤ 35% (Group 1, n=187, 57%) or >35% (Group 2, n=143, 43%). According to changes vs. baseline (reduction of left end-systolic volume [LVESV] ≥ 10% or increase of LVEF% > 10 units), patients were also classified as echocardiographic (Echo) non-responders (Group A, n=152, 46%) or responders (Group B, n=178, 54%). RESULTS: At baseline, LVESV volume was larger and LVEF was lower in Group 1 vs. Group 2 (p<0.001). After 1 year, echocardiographic improvement was greater in Group 2 vs. Group 1 (p<0.001 for changes in both LVESV and LVEF). Over a median follow-up of 49 months, 47 patients (14%) died, 36 in Group 1 vs. 11 in Group 2 (19% vs. 8%, p=0.004). A significantly higher rate of freedom from all-cause mortality (p=0.002), cardiovascular mortality (p<0.001) and SCD (p<0.001) was observed in Group 2. Multivariate analysis demonstrated that only 1-year LVEF >35% was associated with freedom from SCD/VF. CONCLUSIONS: LVEF >35% after 1 year of CRT characterizes a favorable long-term outcome, with a very low risk for SCD.