Abstract: Introduction: Pre-participation screening aimed at the detection of disorders associated with sudden cardiac death is universally supported by major medical societies. However, the best method for screening remains controversial. The aim of this study was to evaluate the prevalence of structural cardiac lesions identified by echocardiography in apparently healthy athletes referred for pre-participation screening. Material and methods: We conducted an observational retrospective study (January 2017-December 2019) performed in a single center. We evaluated echocardiograms of athletes under 35 years of age, performed in the first evaluation for pre-participation screening. Results: A total of 1,981 different athletes’ echocardiograms were included; 36 exams (1.8%) reported structural cardiac lesions. The most common cardiac lesions found were mitral valve prolapse (n = 5), atrial septal aneurysm (n = 5) and atrial septal defect (n = 4). The bicuspid aortic valve and left ventricular hypertrophy were each present in 3 athletes (n = 3); ventricular septal defects, left ventricular noncompaction, aortic dilatation and dilated cardiomyopathy were each found in 2 athletes (n = 2). Less frequent lesions were present in only one athlete, such as hypertrophic cardiomyopathy, surgically-corrected transposition of the great arteries, and pulmonary valve stenosis. Notably, among 36 patients with structural abnormalities in echocardiography, only 6 (16.7%) had positive standard pre-participation screening (combining personal and family history, physical examination and electrocardiogram). Conclusions: Echocardiography plays an important role in detecting cardiac structural abnormalities that would otherwise escape standard screening protocols and could be left unnoticed. This study suggests a potential benefit of including echocardiography in the first evaluation for pre-participation screening of competitive athletes.

Resumen: Introducción: Las principales sociedades médicas respaldan universalmente el cribado previo a la participación destinado a la detección de trastornos asociados con la muerte súbita cardiaca. Sin embargo, el mejor método para la detección sigue siendo controvertido. El objetivo de este estudio fue evaluar la prevalencia de lesiones cardiacas estructurales identificadas por ecocardiografía en atletas aparentemente sanos, referidos para tamizaje pre-participación. Material y métodos: Realizamos un estudio observacional retrospectivo (enero 2017-diciembre 2019) de un único centro. Se evaluaron ecocardiogramas de atletas menores de 35 años, realizados en la primera evaluación para tamizaje pre-participación. Resultados: Se incluyeron en total 1,981 ecocardiogramas de atletas diferentes; 36 exámenes (1.8%) reportaron lesiones cardiacas estructurales. Las lesiones cardiacas más frecuentes encontradas fueron prolapso de la válvula mitral (n = 5), aneurisma del tabique interauricular (n = 5) y comunicación interauricular (n = 4). La válvula aórtica bicúspide y la hipertrofia ventricular izquierda estuvieron presentes cada una en tres atletas (n = 3); defectos del tabique ventricular, miocardiopatía por ventrículo izquierdo no compacto, dilatación aórtica y miocardiopatía dilatada se encontraron cada uno en dos atletas (n = 2). Las lesiones menos frecuentes se presentaron en un solo atleta, e incluyeron miocardiopatía hipertrófica, transposición de grandes arterias corregida quirúrgicamente, estenosis de válvula pulmonar, entre otras. En particular, entre 36 pacientes con anomalías estructurales en la ecocardiografía, sólo 6 (16.7%) tuvieron un examen estándar previo a la participación positivo (combinando antecedentes personales y familiares, examen físico y electrocardiograma). Conclusiones: La ecocardiografía transtorácica juega un papel importante en la detección de anomalías estructurales cardiacas que de otro modo escaparían a los protocolos de detección estándar y podrían pasar desapercibidas. Este estudio sugiere un beneficio potencial de incluir la ecocardiografía en la primera evaluación para la detección previa a la participación de atletas competitivos.

CONTEXTO A mastocitose sistêmica é definida como um distúrbio clonal do mastócito e suas células precursoras, sendo atualmente classificada como uma neoplasia mieloproliferativa. Seu curso clínico tem um espectro alargado, variando desde a doença indolente caraterizada por uma sobrevida normal, até a doença altamente agressiva associada a um envolvimento multissistêmico e a uma sobrevida reduzida. Este artigo reporta um caso de mastocitose sistêmica indolente, focando as principais dificuldades diagnósticas e fazendo uma revisão sistematizada da literatura. RELATO DO CASO Mulher de 79 anos, caucasiana, com antecedentes de osteoporose, foi avaliada no Serviço de Urgência por queixas de dor lombar. Antes disso, a doente havia consultado um ortopedista e realizado alguns exames de imagem, nomeadamente uma cintilografia óssea, que revelou um padrão em “superscan”. Em virtude de suas queixas álgicas e dos resultados dos estudos efetuados, foi internada no Departamento de Medicina Interna. Depois de realizados vários estudos analíticos e exames de imagem suplementares para excluir algumas importantes hipóteses de diagnóstico, a doente fez uma biópsia de medula óssea que permitiu identificar uma mastocitose sistêmica indolente. CONCLUSÃO A mastocitose sistêmica é uma entidade rara e difícil de diagnosticar. Os seus sintomas são muitas vezes inespecíficos e frequentemente ignorados. As alterações esqueléticas podem ser as primeiras e as únicas manifestações e, em certos casos, como este, o diagnóstico só pode ser feito após exame histológico. O mais importante para o diagnóstico é contemplar a hipótese de estarmos perante uma mastocitose sistêmica.

CONTEXT Systemic mastocytosis is defined as a clonal disorder of mast cells and their precursor cells and is currently classified as a myeloproliferative neoplasm. Its clinical course has a wide spectrum, ranging from indolent disease, with normal life expectancy, to highly aggressive disease, associated with multisystemic involvement and poor overall survival. The aim of this study was to report a case of indolent systemic mastocytosis, focusing on the diagnostic challenges, with a review of the literature. CASE REPORT A 79-year-old Caucasian woman with osteoporosis was evaluated at the Emergency Department because of complaints of low back pain. Before this, she had consulted an orthopedist and had undergone some imaging examinations, namely a bone scan that revealed a “superscan” pattern. Due to her pain complaints and these test results, the patient was admitted to the Department of Internal Medicine. After undergoing several analytical tests and some additional imaging examinations to rule out some important differential diagnoses, she then underwent bone marrow biopsy, which made it possible to identify indolent systemic mastocytosis. CONCLUSION Systemic mastocytosis is a rare entity that is difficult to diagnose. Its symptoms are often unspecific and frequently ignored. Skeletal changes may be the first and only manifestation of the disease and in some cases, like this one, the diagnosis is made only after histological examination. The key point for the diagnosis is to contemplate the possibility of systemic mastocytosis.