Johannes J. Kuiper

Dramatically Different Phenotypic Expressions of Hypertrophic Cardiomyopathy in Male Cousins Undergoing Cardiac Transplantation With Identical Disease-Causing Gene Mutation

Described herein are certain findings in 2 male cousins who underwent cardiac transplantation for severe heart failure (HF), one of the diastolic type (ejection fraction ≈65%), and one of the systolic type (ejection fraction ≈20%), both the consequence of hypertrophic cardiomyopathy (HC), and each had identical disease-causing gene mutations. The implanted heart in one had normal-sized ventricular cavities and no grossly visible ventricular wall lesions (except in one papillary muscle) and the other patient had severely dilated ventricular cavities and multiple extensive ventricular wall scars. The heart mass and the age of onset of symptoms was similar in each patient. A number of other family members had evidence of HC.

“Repaired” Tetralogy of Fallot Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy (Another Phenocopy)

Described is a 41-year-old man who at age 6 had partial resection of an obstructed right ventricular outflow tract with insertion of a patch and closure of a ventricular septal defect (tetralogy of Fallot). At age 41, cardiac transplantation was performed because of right ventricular outflow patch aneurysm, numerous episodes of ventricular tachycardia, and chronic heart failure, all features of the familial form of arrhythmogenic right ventricular cardiomyopathy (ARVC). Additionally, the patient had bundle branch block and epsilon waves on electrocardiogram, other features of ARVC. The case is described to introduce the concept of acquired ARVC, because the patient had many of the clinically recognized features of familial ARVC.

The Kounis-Zavras syndrome with the Samter-Beer triad.

We present a case of Kounis-Zavras syndrome in the setting of aspirin-induced asthma, or the Samter-Beer triad of asthma, nasal polyps, and aspirin allergy. The Kounis-Zavras syndrome, also known as Kounis syndrome, leads to angina pectoris or acute coronary syndrome secondary to coronary vasospasm in response to an allergic stimulus, leading to mast-cell degranulation of vasospastic mediators. The vasospasm can result in myocardial infarction, as it did in our patient.

Preoperative exclusion of significant coronary artery disease by 64-slice CT coronary angiography in a patient with a left atrial myxoma

A 49-year-old man without any significant past medical history presented to the emergency department with complaints of diploplia, paresthesias in both arms, vertigo, tinnitus in the right ear, and dysarthria. Physical examination was unremarkable. A computed tomographic (CT) scan of the head was normal. These symptoms resolved within several hours, consistent with a transient ischemic attack. Magnetic resonance imaging of the brain revealed acute infarcts in the left cerebellar hemisphere and in the right occipital lobe, suggesting a thromboembolic source. Transesophageal echocardiography disclosed a 2 × 2-cm mass attached to the left atrial aspect of the atrial septum, and surgical excision was planned. As the patient was considered to have a very low risk for the presence of significant arterial narrowing, he underwent a 64-slice cardiac CT scan rather than invasive coronary angiography. The scan demonstrated minimal plaque in the coronary arteries (Figure ​(Figure11). The left atrial mass was also well visualized on both the axial slices and also with three-dimensional imaging (Figure 2a–c). Subsequently, the patients left atrial mass was excised without complication, and the mass was a typical myxoma (Figure 2d, e). This case demonstrates how, in the future, routine invasive coronary angiography may not be necessary as part of the workup for noncoronary cardiac surgery. In this instance, significant concomitant coronary artery disease was effectively excluded with multislice CT rather than an invasive procedure, thus allowing the surgery to proceed without a cardiac catheterization. In addition, CT imaging assisted with long-term prognostic information, as it suggested the need for the patient to be on cholesterol reduction therapy by demonstrating the early presence of coronary atherosclerosis. Figure 1 Three-dimensional reconstruction of the patients coronary arteries (3D) with multislice computed tomography. Curved reformat images of the left anterior descending (LAD) coronary artery, right coronary artery (RCA), and left circumflex coronary artery ... Figure 2 (a, b) Axial slices from the patients multislice computed tomographic scan demonstrating the myxoma attached to the left atrial aspect of the atrial septum (arrowheads). (c) The myxoma (arrowhead) shown via a “navigator” view inside the ...

Combined cardiac and liver transplantation for the treatment of familial amyloidosis

A 55-year-old white man presented with weight loss and diarrhea in 2002. An extensive workup, including colonoscopy and gastrointestinal biopsy, led to a diagnosis of familial transthyretin amyloidosis (Appalachian variant). The patient had a steady decline over the next 2 years, including progressive weakness, peripheral neuropathy, and wasting. Because of the clinical progression, he underwent evaluation for liver transplantation. During this workup, an echocardiogram demonstrated right ventricular enlargement, pulmonary pressures in excess of 50 mm Hg (based on tricuspid regurgitation), a small pericardial effusion, and an increased echogenicity of the myocardium (Figure ​(Figure11). These findings were consistent with cardiac amyloid. Figure 1 Echocardiogram demonstrating increased echogenicity of the myocardium in (a) the parasternal long and (b) four-chamber views. A small pericardial effusionis noted (arrows). (c) Mitral valve inflow demonstrates “pseudonormalization” of ... Right heart catheterization demonstrated a mean right atrial pressure of 12.1 mm Hg. The other pressures were as follows (mm Hg): right ventricular, 56/14; pulmonary arterial, 54/25, with a mean of 38; pulmonary capillary wedge, 23.4; right ventricular end diastolic, 12; and left ventricular end diastolic, 26. The cardiac output was 5.2 L/min, and the cardiac index was 2.5 L/min/m2. The overall ejection fraction was 55% without wall motion abnormalities. A vasodilator challenge (Nipride) was performed to evaluate for the presence of reversible pulmonary hypertension. With infusion of Nipride, the patients pulmonary arterial pressure decreased from 54/25 to 43/18 mm Hg, and the mean pressure decreased from 38 to 32 mm Hg, suggesting that the pulmonary hypertension was reversible. Left heart catheterization demonstrated coronary arteries without significant atherosclerosis. Six biopsy specimens of myocardium from the right ventricular septum were obtained percutaneously using fluoroscopic guidance. Five of these were sent for Congo red staining and microscopy (Figure ​(Figure22). A single sample was sent for electron microscopy (Figure ​(Figure33). The biopsy findings confirmed the presence of cardiac amyloid. Figure 2 The right ventricular endocardial biopsy specimen after Congo red staining. The (a) “apple-green birefringence” and (b) light pink homogeneous deposits (arrow) are consistent with amyloid. Figure 3 Electron micrograph demonstrating the classic appearance of amyloid fibrils within the myocardium. In the setting of reversible pulmonary hypertension, liver transplantation was felt to be potentially curative for this type of amyloidosis (1, 2), and the patient was evaluated and accepted for a combined heart and liver transplantation. The patient tolerated posttransplant immunosuppression well with tacrolimus, mycophenolate, daclizumab, and corticosteroids. He was discharged to a rehabilitation center 2 weeks after surgery. Although he was doing well from a transplant standpoint, 2 months after surgery he died from complications unrelated to either his underlying illness or the transplant itself. His death appeared to be secondary to a pulmonary embolism while he was at a skilled nursing facility for rehabilitation. No autopsy was performed.

Fat in the ventricular septum.

Described herein is a 68-year-old man who underwent cardiac transplantation for severe chronic heart failure resulting from ischemic cardiomyopathy. Examination of the excised heart showed not only extensive left ventricular scarring but also a huge collection of adipose tissue in the subepicardial region and surprisingly also in the ventricular septum. The finding of fat in the ventricular septum is extremely rare and prompted this report.

Lymphocytic myocarditis as a cause of fulminant fatal heart failure

Figure. The heart in the patient described. (a) View of dilated right and left ventricles just caudal to the atrioventricular valves. (b) Transverse cuts of the cardiac ventricles. (c) Close-up view of the ventricular septum and right and left ventricular walls. Linear scars are present in the septum and in the posterior wall of the left ventricle. (d) Low-power view of foci of lymphocytes in an area of scar. (e) Low-power view of collections of lymphocytes in areas of scar between muscle bundles. (f) Higher-power view of lymphocytes associated with myofiber necrosis. Hematoxylin and eosin stains. (Photographs by Jong Mi Ko.) a b