M. Júlia Maciel

Cardiac metastasis from epidermoid esophageal cancer mimicking anterior myocardial infarction

Cardiac metastases are more common than primary tumors. Several types of malignant tumors have been reported to metastasize to the heart, mainly lung cancer, but in the setting of esophageal cancer, myocardial metastasis is comparatively rare. We report a case of a cardiac metastasis from esophageal squamous cell carcinoma detected 9 months after surgically curative esophagectomy, which presented mimicking acute myocardial infarction. The use of different imaging modalities was fundamental to a correct diagnosis considering the challenging presentation.

A case of acute heart failure due to giant aortic pseudoaneurysm with fistulization to the right ventricle after a modified Bentall operation

Simultaneous en bloc replacement of the ascending aorta and aortic valve by a composite valve graft, as first described by Bentall and De Bono in 1968 and with later modifications, has become the standard surgical technique in the treatment of aneurysms of the aortic root associated with severe aortic valve dysfunction. Despite the good surgical results overall, it is still associated with considerable perioperative mortality and with dire complications in the long run. We report a case of a giant aortic pseudoaneurysm compressing the right heart chambers and communicating with the right ventricle presenting as rapidly progressing heart failure a few months after a Bentall operation.

Hipocalcemia como uma causa reversível de insuficiência cardíaca

Calcium plays a key role in heart muscle contraction and relaxation. Hypocalcemic heart failure is a rare and potentially reversible disturbance, which reflects this intrinsic relationship. The authors present the case of a 35-year-old woman who developed acute heart failure during the early postoperative period following total thyroidectomy. The echocardiogram showed severe global left ventricular dysfunction. Laboratory tests showed severe hypocalcemia and new-onset hypoparathyroidism. Cardiac catheterization showed angiographically normal coronary arteries. After clinical, hemodynamic and metabolic stabilization, a repeat echocardiogram revealed recovery of left ventricular function. Subsequently, cardiac magnetic resonance imaging was performed, which also showed no alterations. The patient was discharged asymptomatic, medicated with calcium carbonate, calcitriol and levothyroxine. This case highlights the importance of considering hypocalcemia as a cause of reversible myocardial dysfunction.

Percutaneous Closure of a Fistulous Giant Coronary Aneurysm

Giant coronary artery aneurysms larger than 50 mm are rare and associated with important complications: namely, rupture. Its workup requires comprehensive imaging and standard treatment is surgical exclusion. We present a 60-year-old patient with previous ostium secundum atrial septal defect surgical closure diagnosed with a giant proximal right coronary artery aneurysm (70 x 62 mm) fistulizing into the right atrium. Percutaneous closure of its aortic origin with an atrial septal occluder was successfully performed, and thrombosis of the aneurysm confirmed on angiography and echocardiogram. This case depicts an innovative, minimally invasive approach to this worrisome entity.

Challenging Evaluation of Aortic Regurgitation: More Than a Quadricuspid Valve

Mailing Address: Gonçalo Pestana • Centro Hospitalar de São João Serviço de Cardiologia Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal E-mail: gnpestana@gmail.com Manuscript received October 24, 2017, revised manuscript February 26, 2018, accepted February 26, 2018

Left Ventricular Mechanical Reverse Remodelling Not Followed by Electrical Reverse Remodelling: A Case Report

Patients with severely depressed left ventricular ejection fractions (LVEFs) receive implantable cardioverter-defibrillators (ICDs) for the primary prevention of sudden death. However, in some patients, LVEFs may improve or even normalize over time, and these patients would no longer be qualified for ICD implantation based on the original criteria for which they have initially received an ICD. We report a patient with idiopathic dilated cardiomyopathy whose LVEF recovered to normal values after pharmacological therapy. Meanwhile, the patient had life-threatening ventricular fibrillation, aborted by the ICD. We reflect on the pathological features of left ventricular reverse remodelling and ventricular arrhythmogenesis, where the myocardial substrate appears to play an important role. Also, after LVEF improvement in a patient with a cardiac device, there is still a debate on whether we should perform a battery replacement.

Huge Pseudoaneurysm After Mitral Valve Replacement

A 57 year-old man with a history of mitral valve replacement 12 years before was admitted for prolonged palpitations and congestive heart failure. Electrocardiogram showed sustained ventricular tachycardia. After cardioversion, despite the poor acoustic window, echocardiography showed a huge left paraventricular chamber (6 cm length) with a large neck (5 cm width), involving the basal segments of the lateral, posterior and inferior walls, associated with mitral prosthesis rocking (Fig. 1 and Video I). Left ventricle (LV) function was severely depressed. Cardiac magnetic resonance confirmed the presence of a multilobar pseudoaneurysm (8 cm 6 cm) with a wide neck (6.5 cm), involving the basal inferior and inferolateral segments, with pericardial late enhancement (Fig. 2). Lateral insertion of the mitral prosthesis was supported only by the false aneurysm (Video II). Cardiac computed tomography showed diffuse parietal calcifications in the pseudoaneurysm as well as a large mural thrombus

Thrombus through a patent foramen ovale, A direct cause of cardioembolic stroke and pulmonary embolism

We report the case of a 79-year-old man hospitalized for stroke. The patient had hypertension and dyslipidemia and the ECG revealed previously unknown atrial fibrillation. A transthoracic echocardiogram (TTE) was performed two days after admission to exclude an embolic source. This showed marked dilatation of the right cavities, systolic--diastolic flattening of the interventricular septum (IVS) (Figure 1, panel A) and depressed right ventricular systolic function (S′: 8 cm/s; 3D ejection fraction: 18%) (Figure 1, panel D; Video 1). The left ventricle was small and compressed by the bulging IVS; no other wall motion abnormalities were observed. There was a large thrombus 35 mm × 19 mm in size on the right atrium (RA) lateral wall (Figure 1, panel B), and another thrombus 40 mm in length through the patent foramen ovale (PFO) (Figure 1, panel C; Video 2). The patient underwent thoracic CT angiography that confirmed signs of chronic pulmonary embolism and assessed

Congenital complete atrioventricular block and dilated cardiomyopathy: new light for an old disease.

We present a case of a patient with known complete congenital atrioventricular block (CAVB) since the age of 7 years old that developed dilated cardiomyopathy ten years after VVI-R pacemaker implantation. He presented severe biventricular dysfunction and was symptomatic despite optimal medical therapy. Cardiac resynchronization therapy was used, and he showed clinical and electrocardiographic improvement a month later.

Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan

Resumo Introducao O diagnostico da Sindrome de Marfan (SM) depende fundamentalmente de uma avaliacao clinica multidisciplinar. O seu diagnostico molecular, atraves da identificacao de mutacoes no gene FBN1, pode permitir estabelecer um diagnostico definitivo mesmo perante fenotipos atipicos ou «incompletos» e reconhecer precocemente portadores assintomaticos. Objectivos O presente trabalho teve como objectivo principal avaliar a frequencia e o tipo de mutacoes no gene FBN1, numa populacao de doentes com SM, referenciados a um centro hospitalar de cuidados terciarios, com cirurgia toracica. Metodos A nossa amostra incluiu 30 individuos com SM (provenientes de 14 familias), que foram avaliados em consulta de Cardiologia, Reumatologia e Oftalmologia. Em todos os casos foi efectuada a pesquisa de mutacoes no gene FBN1 a partir de ADN obtido de amostras de sangue periferico, utilizando a tecnica de amplificacao por Polymerase Chain Reaction e posterior sequenciacao genica. Resultados Identificamos 12 mutacoes distintas nas 14 familias estudadas. Destas, apenas duas estavam previamente descritas na literatura, sendo as restantes 10, novas mutacoes. Encontramos mutacoes missense em 36% dos casos e mutacoes conduzindo a formacao de codoes de terminacao prematura em 50% dos casos. Conclusoes Este trabalho constitui a primeira descricao de resultados de analise genotipica em doentes portugueses com SM, de que temos conhecimento. Com este trabalho, realcamos a importância de uma avaliacao clinica multidisciplinar e da utilidade da pesquisa de mutacoes no gene FBN1 em casos seleccionados. Ao descrever 10 novas mutacoes, contribuimos ainda para a ampliacao do espectro de variantes do gene da FBN1 associadas a SM.INTRODUCTION The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. Molecular study to identify mutations in the FBN1 gene can establish a definitive diagnosis even with atypical or «incomplete» phenotypes and enable earlier diagnosis in asymptomatic patients. OBJECTIVES The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population of Marfan syndrome patients referred to a tertiary care center with cardiothoracic surgery. METHODS Our sample included 30 individuals with MFS (from 14 families), evaluated in cardiology, rheumatology and ophthalmology consultations. In all patients, DNA was extracted from a peripheral blood sample and mutation screening of the entire coding sequence of the FBN1 gene was then performed, using the polymerase chain reaction. RESULTS We identified 12 different mutations in the 14 families studied. Of these, only two had been previously described in the literature, while the other 10 were found to be new mutations; 36% of patients carried a missense mutation and 50% carried a mutation leading to a premature termination codon. CONCLUSIONS To the best of our knowledge this is the first genotypic description of Portuguese patients with MFS. In this study, we highlight the need for comprehensive clinical evaluation of these patients and the value of FBN1 mutation analysis in selected cases. By describing 10 new mutations, we have also helped broaden the spectrum of known FBN1 mutations associated with MFS.