ABSTRACT
INTRODUCTION AND OBJECTIVES: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. METHODS: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. RESULTS: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect. CONCLUSIONS: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis.
Subject(s)
Cardiomyopathy, Hypertrophic , Tropomyosin , Aged , Cardiomyopathy, Hypertrophic/diagnosis , Cardiomyopathy, Hypertrophic/genetics , Female , Genetic Association Studies , Humans , Male , Middle Aged , Mutation , Pedigree , Phenotype , Portugal/epidemiology , Spain/epidemiology , Tropomyosin/geneticsSubject(s)
Hypertension , Vascular Stiffness , Adult , Blood Pressure , Child , Early Diagnosis , Heart Rate , HumansABSTRACT
We describe the case of a teenager with a structurally normal heart that presented with torsades de pointes and cardiac arrest. He had a history of epilepsy in childhood, mild cognitive impairment and cognitive visual dysfunction. The baseline electrocardiogram had prominent J waves and a marked early repolarization pattern in all the leads, with normal QT interval. We discuss the differential diagnosis for this interesting case, as well as the patient's management.
ABSTRACT
Anomalous pulmonary venous connection is an uncommon congenital anomaly in which all (total form) or some (partial form) pulmonary veins drain into a systemic vein or into the right atrium rather than into the left atrium. The authors present one case of total anomalous pulmonary venous connection and two cases of partial anomalous pulmonary venous connection, one of supracardiac drainage into the brachiocephalic vein, and the other of infracardiac anomalous venous drainage (scimitar syndrome). Through the presentation of these cases, this article aims to review the main pulmonary venous developmental defects, highlighting the role of imaging techniques in the assessment of these anomalies.
Subject(s)
Pulmonary Veins/abnormalities , Scimitar Syndrome/diagnostic imaging , Adolescent , Child , Female , Heart Atria , Humans , Incidental Findings , Infant , Magnetic Resonance Imaging , Male , Pulmonary Veins/diagnostic imaging , Scimitar Syndrome/therapy , Tomography, X-Ray ComputedABSTRACT
Kawasaki disease (KD) is a systemic vasculitis of unknown etiology, which is the main cause of acquired heart disease in children in developed countries. The main complications result from the development of coronary aneurysms which can lead to ischemic heart disease. We present the case of a teenage boy with a diagnosis of KD at the age of seven. He was treated with gammaglobulin and aspirin and echocardiographic evaluation in the acute phase was apparently normal. At the age of eleven, he developed chest pain and exertional dyspnea. Nuclear perfusion scans with exercise revealed hypoperfusion of the left anterior descending (LAD) and right coronary (RC) artery territories. Cardiac catheterization showed occlusion of the proximal segments of both arteries. He underwent coronary artery bypass graft surgery (internal mammary artery bypass graft to the LAD artery and saphenous vein graft to the RC artery), with a good clinical result. This case report highlights the importance of early diagnosis and treatment of KD and regular cardiological follow-up, bearing in mind the potential late complications of this pediatric disease.
Subject(s)
Coronary Artery Bypass , Coronary Artery Disease/etiology , Coronary Artery Disease/surgery , Mucocutaneous Lymph Node Syndrome/complications , Adolescent , Humans , MaleABSTRACT
We present two case reports of primary cardiac tumors diagnosed in the pediatric age group, with different clinical evolution and therapeutic approach.
Subject(s)
Hamartoma , Heart Neoplasms , Child , Female , Hamartoma/diagnosis , Hamartoma/surgery , Heart Neoplasms/diagnosis , Heart Neoplasms/surgery , Humans , Infant , MaleABSTRACT
A Glossite Rômbica Mediana (GRM) apresenta-se como uma área despapilada, de formato oval ou rombóide, localizada na linha média, em frente ao ápice do "V" formado pelas papilas circunvalares no terço posterior e/ou médio do dorso lingual. A prevalência desta entidade na população é baixa (inferior a 1 por cento), não havendo distinção quanto ao sexo e a raça dos indivíduos. No entanto, é fundamental saber diagnosticá-la, buscando com isto realizar o diagnóstico diferencial com outras patologias de língua. Esse estudo procurou avaliar a prevalência da GRM, comparando pacientes pediátricos e adultos, de ambos os sexos, com distintas procedências na cidade de Porto Alegre, RS
Subject(s)
Humans , Male , Female , Epidemiology , Glossitis , Candidiasis, Oral/epidemiology , Candidiasis, Oral/etiology , Candidiasis, Oral/pathologyABSTRACT
A radiação ionizante é corriqueiramente empregada como recurso de diagnóstico e terapêutico para uma série de enfermidades. Quando esta é usada no tratamento das neoplasias malignas da região da cabeça e pescoço não age de forma seletiva para as células neoplásticas. Muitas células sadias são irradiadas e o efeito da radiação pode provocar alterações estruturais imediatas ou tardias e até levar à morte das mesmas. O epitélio de revestimento das mucosas da cavidade bucal é um dos tecidos que primeiro reage aos efeitos do tratamento radioterápico. A denominada mucosite por radiação é uma manifestão estomatológica muito freqüente, desconfortável, passível de sofrer infecções secundárias e comprometer o estado de saúde geral do indivíduo em tratamento. Neste artigo, os autores descrevem três casos desta patologia e ao mesmo tempo alertam o cirurgião-dentista para a importância de um acompanhamento clínico sistemático do paciente sob tratamento radioterápico, visando um reconhecimento precose da mucosite por radiação, a prevenção das infecções secundárias e de suas complicações.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Radiotherapy , Stomatitis , Radiation Effects , Mouth MucosaABSTRACT
Radioterapia é a modalidade terapêutica que utiliza as radiaçöes ionizantes com o objetivo de destruir as células neoplásicas visando uma reduçäo ou desaparecimento da neoplasia maligna. Convêm salientar que este tipo de tratamento , quando aplicado na região da cabeça e do pescoço, dependendo da dose de irradiaçäo, tempo e volume do tratamento, dose de distribuiçäo e uso concomitante de outras terapias, pode produzir alteraçöes reversíveis e irreversíveis nos tecidos. Os efeitos deletérios causados pela radioterapia considerados de relevância para o cirurgiäo-dentista säo aqueles que ocorrem nas glândulas salivares, ossos, dentes, mucosas da boca, músculos e articulaçöes que combinam a perda de células e o dano na vascularizaçäo local. A proposta deste trabalho consiste em apresentar uma revisäo do uso da radioterapia para o tratamento das neoplasias malignas sediadas na regiäo da cabeça e pescoço, com especial mençäo aos efeitos que estas causam aos tecidos da cavidade bucal e que o cirurgiäo-dentista precisa conhecer
Subject(s)
Humans , Male , Female , Tooth , Mouth Neoplasms , Mouth Mucosa , Salivary Glands/radiation effects , Head and Neck Neoplasms/radiotherapyABSTRACT
Os autores fizeram um estudo de 16.006 diagnósticos histopatológicos de um Laboratório de Patologia Bucomaxilofacial, com o objetivo de classificar as lesões em percentagens nos grupos de ocorrência
