Laminopathies: a Pandora's box of heart failure, bradyarrhythmias and sudden death.

INTRODUCTION: The LMNA gene encodes a group of proteins that have an important structural and functional role in the cell nucleus. Mutations in this gene have been found in 6% of all forms of dilated cardiomyopathy and in up to 33% of those with conduction system disturbances. AIMS AND METHODS: Using a case report as an example, we performed a review of the literature on the pathophysiological mechanisms, clinical manifestations, risk stratification and treatment options of cardiac involvement in laminopathies. CASE REPORT: We present the case of a 46-year-old man, whose ECG showed bizarre voltage criteria for left ventricular hypertrophy and first-degree atrioventricular block, a dilated left ventricle with mildly impaired global systolic function and non-sustained ventricular tachycardia on Holter monitoring, and with a family history of sudden death. Genetic testing identified an LMNA mutation. No ventricular arrhythmias were induced during electrophysiological study. The patient is under close clinical and echocardiographic monitoring and an event loop recorder has been implanted. DISCUSSION: Phenotypically, myocardial involvement in laminopathies is indistinguishable from other forms of idiopathic dilated cardiomyopathy. Ventricular arrhythmias are common, but the best method for sudden death risk stratification has yet to be established. The few studies that have been performed, with a very limited number of patients, show that factors associated with an unfavorable prognosis are ejection fraction <45%, non-sustained ventricular tachycardia, male gender and any form of atrioventricular block. Given the lack of evidence, indications for an implantable cardioverter-defibrillator for primary prevention in this context are the same as conventional indications for other forms of idiopathic dilated cardiomyopathy. CONCLUSIONS: Cardiac involvement as a consequence of LMNA mutations generally has a more aggressive natural history than other forms of non-ischemic dilated cardiomyopathy. A high index of suspicion and prompt referral for genetic testing are essential for appropriate therapeutic management.

[Images in cardiology after clinical observation - aortic dissection in Marfan syndrome]. / Imagens em Cardiologia mas depois da clínica em Cardiologia - Dissecção da aorta num doente com Síndrome de Marfan.

INTRODUCTION: Stanford type A aortic dissection is a rare phenomenon with high short-term mortality and clinical manifestations that can make differential diagnosis a lengthy process requiring several diagnostic examinations. OBJECTIVES: Based on a case report, the aim is to highlight the importance of physical examination in the initial management of these patients and of rapid access to a surgical center. A brief review follows on the diagnosis and treatment of ascending aortic dissection, and its specific nature in Marfan syndrome. CASE REPORT: A 33-year-old man was admitted to the emergency department of a district hospital with chest and back pain associated with vomiting, 20 hours after symptom onset. Initial physical examination revealed an aortic systolic murmur and musculoskeletal morphological abnormalities compatible with Marfan syndrome. Given suspected aortic dissection, a transthoracic echocardiogram was immediately performed, which showed an extensive intimal flap originating at the sinotubular junction. He was transferred to the cardiothoracic surgery department of a referral hospital where he was treated by a Bentall procedure. CONCLUSION: In this case, careful physical examination during initial assessment raised the suspicion that this patient was in a high-risk group for aortic dissection, thus avoiding unnecessary and lengthy exams. This diagnosis requires emergent surgical treatment, and so direct contact in real time between those making in the diagnosis and the surgeon is essential, as well as protocols governing immediate access to a surgical center.

Myocardial infarction as the first probable manifestation of caseous calcification of the mitral annulus.

Calcification of the mitral annulus is a common echocardiographic finding during routine evaluation of patients. Caseous calcification of the mitral annulus (CCMA) on the other hand is a rare variant, occurring in about 0.06-0.07% of echocardiographic studies. The authors present the case of a 73-year-old woman admitted to hospital with an anterior wall acute coronary syndrome, in whom transthoracic echocardiography showed a well-defined echogenic rounded mass measuring 27 x 22 mm in diameter attached to the posterior mitral annulus. After transesophageal echocardiography and magnetic nuclear imaging, which confirmed the characteristics of the mass, the patient underwent surgical resection of the mass and mitral replacement with a mechanical prosthetic valve. Histological examination confirmed the diagnosis. Systemic embolism associated with CCMA is a rare but possible complication and was probably the cause of the acute coronary syndrome in this patient.

Transesophageal echocardiography in an emergency setting. A district general hospital experience.

Transesophageal echocardiography is an extremely useful technique for the study of various cardiovascular pathologies. In the particular setting of emergency, it is of great value for prompt diagnosis and appropriate therapy. It was our aim to evaluate, in our hospital, the benefits obtained by the use of transesophageal echocardiography in an emergency setting. We retrospectively studied patients who underwent transesophageal echocardiography (TEE) in an emergency setting, from June 1997 to December 2002, evaluating demographic characteristics, indication to perform TEE, benefit obtained (diagnosis or exclusion of initial diagnosis), and technique-related complications. There were 97 transesophageal echocardiograms performed in an emergency setting in the period under consideration, accounting for 19.3% of the total number of exams. Fifty-two patients (53.6%) were male, mean age 63.9 +/- 12.7. Nineteen patients (19.6%) were on assisted ventilation. The indications to perform TEE were: possible massive or submassive pulmonary thromboembolism in 32 patients (33.0%); suspected aortic dissection in 19 (19.6%); shock with inconclusive transthoracic echocardiogram in ten (10.3%); possible endocarditis in eight (8.2%); possible prosthetic valve dysfunction in seven (7.2%); intracardiac mass in six (6.2%); search for cardiac source of embolism in five (5.2%); possible mechanical complication of acute myocardial infarction in four (4.1%); pre-electrical cardioversion study in four patients with atrial fibrillation (4.1%); and suspected congenital heart disease in two (2.1%). TEE examination yielded additional information and helped in the therapeutic decision in 88 patients (90.7%), leading to a diagnosis in 49 (50.6%), which was different from the initial diagnostic hypothesis in four, and exclusion of the suspected diagnosis in 39 (40.1%). There was only one minor complication (1.0%) and no TEE-related mortality. We concluded that transesophageal echocardiography is an extremely useful and safe cardiovascular diagnostic technique in an emergency setting in a district general hospital, enabling a diagnosis to be reached or excluded in almost all patients, which is essential for implementing appropriate therapy.

Pulmonary embolism associated with a large tricuspid-related mass.

The case of a 43-year-old man with diabetes and alcoholism admitted to the emergency room with shock, fever, pleuritic chest pain and systemic symptoms is presented. Laboratory tests revealed anemia, leukocytosis, thrombocytopenia, high sedimentation rate and D-dimers, hypoxemia and hypocapnea. He also had sinus tachycardia, rSR' in V1 and an opacity on the periphery of the right pulmonary field. Blood and urine cultures were negative, as were serological markers. The echocardiogram showed a large mass adhering to the tricuspid valve, suggestive of myxoma. The patient underwent surgery, and anatomopathological examination of the mass showed it to be a bacterial vegetation, with no agent isolated. It is pointed out that differential diagnosis is difficult between a myxoma with systemic symptomatology associated with a possible pulmonary embolism, and tricuspid endocarditis with negative blood culture associated with a septic pulmonary embolism, which turned out to be the diagnosis in this patient.