1/48. Clinical and pathologic study of two siblings with arrhythmogenic right ventricular cardiomyopathy. ARVC is a cardiomyopathy in which the right ventricular myocardium is replaced by fibroadipose tissue. Males are affected slightly more often than females and, in those cases which are familial, the pattern of inheritance is usually autosomal dominant with incomplete penetrance. We examined the hearts of two sisters, ages 17 and 14, with no family history of heart disease. The older sibling, who was previously considered healthy, died suddenly, while the younger sibling developed congestive heart failure and received a cardiac transplant. An autopsy of the older sibling and examination of the younger sibling's excised heart revealed severe examples of ARVC with minor differences. A thick cap of fibroadipose tissue covered most, if not all, of each right ventricle and was transmural in some areas. Microscopically, lelt ventricles contained extensive myocyte disarray and multifocal fibrosis. The coronary arteries displayed intimal hyperplasia with disruption of the internal elastic lamina, similar to fibromuscular dysplasia. These two cases comprise a unique familial grouping in a polymorphic disease. Despite the male predominance and autosomal dominant inheritance in ARVC, the only members affected in this family were female, and an autosomal dominant pattern of inheritance, even with incomplete penetrance, would be unusual. In addition, we identified changes in the coronary arteries similar to fibromuscular dysplasia and corroborated recently reported changes in the left ventricle of patients with ARVC, providing evidence that this disease, in its most severe form, involves the entire heart. ( info) |
| Absence of the pulmonary valve occurs usually in association with tetralogy of fallot and occasionally with an atrial septal defect or as an isolated lesion. Very rarely it occurs with tricuspid atresia, intact ventricular septum, and dysplasia of the right ventricular free wall and of the ventricular septum. We present the clinical, anatomic, and histologic findings of a new case, and for the first time, the data from two patients with absent pulmonary valve and severe tricuspid stenosis, who exhibited similar histologic findings. We also reviewed the clinical and anatomic data of 24 previously published cases and compared them with the new cases. In all three new cases, the myocardium of the right ventricle was very abnormal. In the two cases with tricuspid stenosis, large segments of myocardium were replaced with sinusoids and fibrous tissue. In the case with tricuspid atresia, the right ventricular free wall contained only fibroelastic tissue. The ventricular septum in all three patients showed asymmetric hypertrophy and in two of the three patients, multiple sinusoids had replaced large segments of myocardial cells. The left ventricular free wall myocardium and the walls of the great arteries were unremarkable. Our data indicate that myocardial depletion involving the right ventricular free wall and the ventricular septum and its replacement by sinusoids and fibroelastic tissue occur not only in cases of absent pulmonary valve with tricuspid atresia but also in cases of absent pulmonary valve with tricuspid stenosis. The degree of myocardial depletion varies and is more severe when the tricuspid valve is atretic. ( info) |
3/48. Segmental wall motion abnormalities in an individual with idiopathic pulmonary hemosiderosis. Idiopathic pulmonary hemosiderosis (IPH) is a rare condition characterized by diffuse pulmonary hemorrhage of unknown etiology. Cardiac involvement in the form of myocarditis and right ventricular hypertrophy have been reported to occur in association with IPH, although findings on echocardiography have not been described. Herein is presented a case of an adult with IPH and echocardiographic abnormalities. ( info) |
4/48. Balloon pulmonary valvuloplasty in carcinoid syndrome. Half of all patients with carcinoid syndrome develop cardiac involvement. patients who have cardiac involvement have a significantly worse prognosis than those without, and death can occur directly as a result of cardiac involvement. A case of carcinoid syndrome in a 38 year old woman with lesions in the liver, who presented with right sided valvar abnormalities, a dilated right ventricle, and right ventricular pressure overload, is presented. In order to palliate the patient's symptoms and to decrease right sided pressures before major abdominal surgery, balloon pulmonary valvuloplasty was performed at the time of cardiac catheterisation. This resulted in a reduction in the pulmonary gradient and right ventricular pressure. Following the procedure, the patient's symptoms were completely relieved. She went on to laparotomy where the lesions in the liver were excised without complication. ( info) |
5/48. Diagnostic dilemma. In those issues in which our regular Case of the Month does not appear, The Green Journal will present a Diagnostic Dilemma-an electrocardiogram or radiograph, or both, with a brief case history-as a challenge for our readers to solve. The correct answer appears on page 742. If you would like to contribute a Diagnostic Dilemma, please submit a high-quality copy of the ECG or radiograph with a brief synopsis (<250 words) of the case to editorial office of the American Journal of medicine. ( info) |
6/48. Right ventricular involvement in hypertrophic cardiomyopathy: a case report and literature review. Although hypertrophic cardiomyopathy (HCM) is classically considered a disease of the left ventricle, right ventricular (RV) abnormalities have also been reported. However, involvement of the right ventricle in HCM has not been extensively characterized. The literature regarding prevalence, genetics, patterns of involvement, histologic findings, symptoms, diagnosis, and treatment of RV abnormalities in HCM is reviewed. To highlight the salient points, a case is presented of apical HCM with significant RV involvement, with an RV outflow tract gradient and near obliteration of the RV cavity, in the absence of a left intraventricular gradient. Right ventricular involvement in HCM appears to be as heterogeneous as that of the left ventricle. The spectrum extends from mild concentric hypertrophy to more unusual severe, obstructive disease. While in some cases the extent of RV involvement correlates with left ventricular (LV) involvement, predominant RV disease can be seen as well. While the genetics of RV involvement have not been well characterized, histologic findings appear to be similar to those in the left ventricle, suggesting similar pathogenesis. Significant RV involvement may result in RV outflow obstruction and/or reduced RV diastolic filling, with potentially increased incidence of severe dyspnea, supraventricular arrhythmias, and pulmonary thromboembolism. The optimal treatment for patients with significant RV disease is unknown. Medical and surgical therapies have been attempted with variable success; experience with newer techniques such as percutaneous catheter ablation has not been reported. Further characterization of RV involvement in HCM is necessary to elucidate more clearly the clinical features and optimal treatments of this manifestation of HCM. ( info) |
7/48. Isolated right ventricular hypertrophic obstructive cardiomyopathy. Two cases of isolated hypertrophic cardiomyopathy of right ventricle without any involvement of interventricular septum or left ventricle are reported. Two cases reported in literature are also reviewed. In these cases symptoms are those of left ventricular hypertrophic obstructive cardiomyopathy. Right ventricular dominance on clinical examination and electrocardiogram and inspiratory increase in intensity of murmur are helpful clues. 2-Dimensional echocardiography with Doppler evaluation can confirm the diagnosis noninvasively. ( info) |
8/48. Hepatic mesenchymal hamartoma in a neonate: a case report and review of the literature. To describe an unusual presentation of mesenchymal hamartoma in a critically ill neonate necessitating a novel therapeutic embolization before definitive resection. An unusual presentation of a large hepatic mass in a newborn complicated by pulmonary hypertension and vascular "steal" with renal insufficiency is presented. The mass was initially successfully embolized, but then revascularized, necessitating resection in an attempt to improve the clinical status of the critically ill neonate. The resected mass was a mesenchymal hamartoma with a necrotic center and extensive arterial collateralization. The patient began improving immediately after resection. Mesenchymal hamartoma may present in the neonate as a diagnostic dilemma. This is the first case report describing persistent pulmonary hypertension and renal compromise from this tumor. Embolization as a therapeutic modality to address this tumor is described. The cause of the persistent and severe pulmonary hypertension remains unclear,but may be related to the tumor. ( info) |
9/48. Paradoxical embolism. An old but, paradoxically, under-estimated problem. The theoretical model of paradoxical embolism requires the presence of four parameters, namely, arterial embolism, venous thrombus, abnormal intracardiac communication and right-to-left shunt. Many aspects, however, of this well known entity are under consideration; diagnosis is often difficult to be established and the long term efficacy of preventive measures is undefined. We comment on a case report of recurrent paradoxical embolism with popliteal vein thrombosis and patent foramen ovale, and we briefly review the literature. ( info) |
10/48. Right ventricular cardiomyopathy accompanied by protein-losing enteropathy and chylous effusion. Severe right-side heart failure developed in a 47-year-old Japanese woman who suffered from hypoalbuminemia and a massive right side chylous pleural effusion. She had been diagnosed as having protein-losing enteropathy with right ventricular cardiomyopathy. autopsy showed congenital anomalies of the lymph ducts and abnormal deposition of fibrous and fatty tissue in the right ventricular myocardium. The clinical and pathological findings are consistent with the nonarrythmogenic form of the arrythmogenic right ventricular dysplasia. ( info) |