ABC | Volume 112, Nº6, June 2019

Anatomopathological Correlation Arq Bras Cardiol. 2019; 112(6):793-802 Issa and Benvenuti Pulmonary infiltrate and left ventricular apex obliteration in a young man If we evaluate the present case based on the analysis of the possible diagnostic hypotheses at the time of the first consultation, we can observe that the main clinical elements on this occasion are: chest pain and dyspnea. There are several causes of chest pain and dyspnea in young individuals, which include diseases of the cardiovascular system, as well as of other organs and systems such as the digestive and musculoskeletal systems. In the present case, the following can be considered: as non-cardiac causes, spontaneous pneumothorax, pneumonia and pulmonary embolism. The clinical and radiological presentation was not compatible with the first two hypotheses, whereas pulmonary embolism is a hypothesis compatible with the initial clinical presentation, especially if we take into account the discrepancy between symptom intensity and the radiological findings and the presence of persistent tachycardia; in spite of the fact that pulmonary embolism is a rare event in young patients, 1 in this case ,there were risk factors such as history of smoking, as well as the presence of possible cardiopathy (as suggested by the ECG performed 11 months before symptom onset). A complementary investigation was performed for the presence of pulmonary embolism through D-dimer measurement, and pulmonary artery angiotomography. However, after obtaining a D-dimer value < 500 in association with absence of suggestive radiological findings at the angiotomography made the diagnosis of pulmonary embolism very unlikely. 2 If we consider cardiac causes for chest pain and dyspnea in young individuals, myocarditis and non-atherosclerotic coronary disease should be seen as noteworthy. In spite of the fact that myocarditis is able to result in a clinical picture compatible with that of the patient's presentation, pre-existing electrocardiographic findings did not support these possibilities. We can evaluate the present case based not only on the analysis of the symptoms that led the patient to the hospital, but also taking into consideration the interesting electrocardiographic findings recorded 11 months before symptom onset; thus, we are led to consider the case from the perspective of the diagnostic possibilities of asymptomatic cardiopathy in a young individual, and which may have left chamber overload as its electrocardiographic manifestation. We can presume the possibility of diseases with primary myocardial involvement (cardiomyopathies), as well as diseases that determine secondary myocardial involvement, such as arterial hypertension and valvular diseases. However, the blood pressure measurement on arrival, as well as the cardiac semiology, did not indicate these possibilities. Regarding the cardiomyopathies, those of familial origin should be considered mainly in this context and may include both hypertrophy (hypertrophic cardiomyopathy) and dilation (dilated cardiomyopathy) or restriction (restrictive cardiomyopathy) as the myocardial phenotypic expression. In this respect, the morphological and functional findings provided by the echocardiogram are of interest. In the present case, the findings of October 17, 2011 indicate a slight increase in the interventricular septal thickness, with hypertrophy of the mid-apical portions of the left ventricle, determining LV filling impairment, but without determining ventricular dilatation or systolic function impairment. These findings might be compatible with the presence of hypertrophic cardiomyopathy, a genetic disease that affects young male and female patients; it is usually asymptomatic during the first decades of life and is commonly diagnosed during routine physical examinations. 3 Chest pain at exertion and dyspnea are common symptoms. Genetic studies indicate that the hypertrophy is caused by dominant mutations in more than 11 genes encoding sarcomere or adjacent Z-disk protein components. Of the patients who were successfully genotyped, approximately 70% had mutations in two genes: the myosin heavy chain (MYH7) gene and the myosin-binding protein C (MYBPC3) gene; more than 1,400 mutations have been described, most of them restricted to family groups. In patients with hypertrophic cardiomyopathy, the left ventricular wall thickness may vary in intensity, ranging from mild (13‑15 mm) to very intense (> 50 mm). 4 Asymmetric patterns of left ventricular hypertrophy, including noncontiguous areas of hypertrophy, can occur. Although diffuse thickening of the left ventricular wall is evident in approximately 50% of patients, a minority (10-20%) may present hypertrophy confined to small portions of the left ventricle. 5 Moreover, patients with hypertrophic cardiomyopathy may have unusual patterns of hypertrophy (e.g., apical hypertrophy), which is associated with giant T-wave inversion on the ECG and is typically caused by sarcomeric mutations. 6 Another possibility to be considered – especially if we take into account the mild ventricular overload in the ECG, the presence of apical obliteration, the absence of hypertrophy greater than 14mm at the echocardiogram and the presence of atrial dilatation – is that of endomyocardial fibrosis. This is a cardiac disease of uncertain etiology. Its distinctive morphological characteristic is the obliteration of the ventricular apices, ventricular filling impairment and great dilation of the atria. However, its clinical presentation is usually that of a chronic disease, with signs of predominantly right heart failure and large dilation of the atria, often with intracavitary thrombi, findings that were absent in the present case. Although its etiology is still unknown, it is suggested to be associated with three basic conditions: eosinophilia and parasitic diseases, nutritional patterns (excess of vitamin D, toxic agents found in contaminated foods and magnesium deficiency have been reported) and genetic susceptibility. 7 In cases where there is an association with pulmonary cycle parasitic agents, there may be involvement of the lungs, with non-cardiogenic pulmonary edema, pneumonitis, and alveolar infiltrate. 8 A hallmark of this condition is hypereosinophilia in the peripheral blood, a manifestation that was absent in the present case. Cardiac involvement has also been described in other hypereosinophilic syndromes, such as Churg-Strauss Syndrome (characterized by asthma or allergic rhinitis and necrotizing vasculitis). 9 In the present case, the possibility of Goodpasture syndrome, a specific autoimmune disease of the lungs and kidneys, was considered and is characterized by the occurrence of antibodies against the basement membrane of these organs. Cardiac involvement has not been yet described in this disease. 10 798