Síndrome de ALCAPA em uma Mulher Jovem / ALCAPA Syndrome in a Young Woman

Mulher de 18 anos com histórico de síncope, angina e palpitações há um ano. Uma indicação crucial era artéria coronária direita dilatada na ecocardiografia transtorácica. Os achados da tomografia computadorizada resultaram no diagnóstico da origem anômala da artéria coronariana esquerda proveniente da síndrome da artéria pulmonar.(AU)

A Cardiac Pseudoaneurysm as a Thromboembolic Source: Acute Visual Loss due to Cardiac Emboli.

Acute visual loss is rarely caused by a heart condition. This manuscript transcribes a case report of a 36-year-old patient with a 2-year history of aortic valve replacement due to bicuspid aortic valve endocarditis that presents to the emergency department with an acute right eye visual loss. After ophthalmologic investigation identified a central retinal artery occlusion, a transthoracic echocardiography was performed to search for a possible cardiac embolus, despite the patient presenting INR values of 2-2.5 for the last year. A mitral-aortic intervalvular fibrosa pseudoaneurysm was identified. A transoesophageal echocardiography was then performed, identifying a small clot logged inside the pseudoaneurysm that protruded to the left ventricle outflow tract. After INR-adjusted warfarin treatment to levels between 3 and 4, the pseudoaneurysm was surgically closed. This is a rare case since the likely source of embolism to the central retinal artery was the thrombus logged inside the pseudoaneurysm despite a standardly accepted therapeutic INR.

A rare late finding in corrected tetralogy of Fallot: a case report.

INTRODUCTION: Isolated pulmonary valve endocarditis is a rare phenomenon. Pulmonary prosthesis endocarditis is even more unusual, with only about 50 descriptions in worldwide literature, and its diagnosis and treatment is a challenge. Due to the increasing number of surgically corrected tetralogy of Fallot (TOF) patients, that often include pulmonary valve implantation, this clinical scenario is likely to become more frequent. CASE PRESENTATION: We describe a 37-year-old man with a previously implanted biologic pulmonary prosthesis after a TOF correction that presented to the emergency department with new-onset fever, orthopnoea, and lower limb oedema. Blood cultures were positive for Streptococcus mitis. Transthoracic echocardiography showed a large mobile mass in the right ventricular outflow tract, apparently originating from the pulmonary prosthesis. Transoesophageal echocardiography (TOE) showed the presence of multiple mobile structures arising from the arterial surface of the prosthesis, extending into the right pulmonary artery and causing right ventricular obstruction. Antibiogram guided treatment was administered and surgery was performed, removing a 9 cm vegetation and replacing the valve. Patient recovered well and was discharged 35 days after. DISCUSSION: In right-sided endocarditis, surgery indications and its timing are much less clear than in left-sided infections, but current literature describes it as associated with a significant morbidity, mortality, and high likelihood of requiring surgery. Large vegetations and clinical signs of haemodynamic impact should prompt consideration of early surgical intervention. The combination of transthoracic and TOE allowed a correct diagnosis and a timely treatment.

Pulmonary Embolism and Intracardiac Type A Thrombus with an Unexpected Outcome.

Detection of right heart thrombi (RHT) in the context of pulmonary thromboembolism (PE) is uncommon (4-18%) and increases the risk of mortality beyond the presence of PE alone. Type A thrombi are serpiginous and highly mobile and are thought to be originated from large veins and captured in-transit within the right heart. Optimal management of RHT is still uncertain. A 79-year-old woman, with a history of recent total hysterectomy with adnexectomy and a Wells procedure, presented to the emergency department following an episode of syncope. Computed tomography revealed bilateral PE and the presence of a right atrial thrombus. Transthoracic echocardiography demonstrated a free-floating type A thrombus in the right atrium, protruding into the right ventricle, and signs of pulmonary hypertension and right ventricle dysfunction. Considering the recent surgery and clinical stability, treatment with heparin alone was decided. Subsequent clinical improvement was observed and echocardiographic follow-up revealed complete thrombus dissolution and complete recovery of right ventricle function. Most authors recommend treatment of PE with RHT with thrombolysis or embolectomy followed by anticoagulation, although evidence is scarce. Individual risk of hemorrhage and operatory-related mortality should be taken into account when defining the treatment strategy especially when benefit is not firmly established.

Gerbode defect and multivalvular dysfunction: Complex complications in adult congenital heart disease.

We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect. The authors aim to discuss the diagnostic challenge of adult CHD, namely the key role of TEE on septal defects and valve regurgitations description.

Cirrhotic cardiomyopathy: Isn't stress evaluation always required for the diagnosis?

AIM: To describe the proportion of patients with cirrhotic cardiomyopathy (CCM) evaluated by stress echocardiography and investigating its association with the severity of liver disease. METHODS: A cross-sectional study was conducted. Cirrhotic patients without risk factors for cardiovascular disease were included. Data regarding etiology and severity of liver disease (Child-Pugh score and model for end-stage liver disease), presence of ascites and gastroesophageal varices, pro-brain natriuretic peptide (pro-BNP) and corrected QT (QTc) interval were collected. Dobutamine stress echocardiography (conventional and tissue Doppler imaging) was performed. CCM was considered present when diastolic and/or systolic dysfunction was diagnosed at rest or after pharmacological stress. Therapy interfering with cardiovascular system was suspended 24 h before the examination. RESULTS: Twenty-six patients were analyzed, 17 (65.4%) Child-Pugh A, mean model for end-stage liver disease (MELD) score of 8.7. The global proportion of patients with CCM was 61.5%. At rest, only 2 (7.7%) patients had diastolic dysfunction and none of the patients had systolic dysfunction. Dobutamine stress echocardiography revealed the presence of diastolic dysfunction in more 6 (23.1%) patients and of systolic dysfunction in 10 (38.5%) patients. QTc interval prolongation was observed in 68.8% of the patients and increased pro-BNP levels in 31.2% of them. There was no association between the presence of CCM and liver impairment assessed by Child-Pugh score or MELD (P = 0.775, P = 0.532, respectively). Patients with QTc interval prolongation had a significant higher rate of gastroesophageal varices comparing with those without QTc interval prolongation (95.0% vs 50.0%, P = 0.028). CONCLUSION: CCM is a frequent complication of cirrhosis that is independent of liver impairment. Stress evaluation should always be performed, otherwise it will remain an underdiagnosed condition.

Prosthetic aortic valve: a bone in the system.

We report a case of a 73-year-old female patient admitted to the surgical department for a splenic abscess. She had a history of a mechanical aortic valve implanted two years earlier. During the diagnostic work-up, the patient underwent a transesophageal echocardiogram that revealed the presence of multiple paravalvular abscesses, establishing the diagnosis of prosthetic valve endocarditis. A few days later, the echocardiogram was repeated due to a new-onset systolic-diastolic murmur. A large pseudoaneurysm and significant periprosthetic regurgitation were now noted and the patient was referred for cardiac surgery. The microbiologic exam revealed the presence of Streptococcus milleri, usually found in the gastrointestinal flora and a known pathogenic agent of endocarditis. Interestingly, the patient had had a foreign body (bone fragment) removed from her esophagus a few weeks earlier, which was the probable portal of entry for this infective endocarditis.

Late right ventricular perforation: a rare complication of a pacemaker implantation.

Right ventricular perforation by a pacemaker lead is a rare complication of pacemaker implantation, with an incidence inferior to 1%. It usually occurs at the time of lead insertion or during the first 24 hours after the procedure (acute perforation).Late right ventricular perforation, defined as occurring at least 1 month after lead implantation, is even rarer. The clinical presentation varies widely and is mainly related to the stimulation of extracardiac structures and/or lead dysfunction.Its diagnosis may be difficult and must be complemented by appropriate imaging methods. The optimal management strategy remains controversial, varying from surgery to more conservative treatments. The authors present a case of late right ventricular myocardium lead perforation occurring in a 56-year-old-male patient, approached with open surgery.

Ventricular lead dysfunction and subclavian vein stenosis: when problems come in pairs.

The widespread and increasing use of cardiac devices implantation naturally augments the number of device related complications. Lead failure is a known complication associated with increased morbidity, mortality and need for reintervention.Chronic stenosis or occlusions of coronary, cephalic or subclavian veins, especially at the site of previous device implantation,can limit lead passage through the target vein, imposing great technical difficulties, especially in patients needing follow-up procedures such as lead revisions and/or system upgrades. Venous balloon angioplasty can be a valuable and safe tool for successful implantation, helping to avoid more complex and hazardous procedures. The authors report the case of a 65 years old male presenting with a "Sprint Fidelis" defibrillator lead malfunction and severe asymptomatic left subclavian vein stenosis after cardiac resynchronization defibrillator therapy. The patient was submitted to a successful percutaneous balloon venoplasty in order to regain adequate venous access and enable reimplantation of the right ventricular lead.

Mitral and aortic valve aneurysms secondary to infective endocarditis: impressive images of a rare echocardiographic finding.

Mitral and aortic valve aneurysms are uncommon, but the coexistence of both mitral and aortic valve aneurysms in the same patient is a rather unusual finding in the literature. We report a rare clinical case of a patient with both mitral and aortic valve aneurysms and a rupture of the mitral valve aneurysm, as the main echocardiographic manifestations of infective endocarditis. This clinical case emphasizes infective endocarditis as the most frequent cause of valve aneurysms, reminding that this diagnosis should be suspected even in the absence of vegetations. This case demonstrates that transoesophageal echocardiography plays a major role on diagnosis of valve aneurysms, revealing the rupture of the mitral valve aneurysm and defining this rupture as the main mechanism of mitral valve regurgitation. This case also underlines the role of transoesophageal echocardiography on management decisions, allowing a morphological evaluation of the mitral valve and selection of the appropriate surgical strategy.

Cardiomyopathy and kidney disease in a patient with maternally inherited diabetes and deafness caused by the 3243A>G mutation of mitochondrial DNA.

Cardiomyopathy is a manifestation of mitochondrial cytopathies, but rarely constitutes the dominant feature, especially in adults. We report the case of a 59-year-old male with a personal and maternal history of diabetes and deafness, who presented with cardiomyopathy and kidney disease. We diagnosed the patient as having a mitochondrial cytopathy resulting from the 3243A>G mutation on the tRNA(Leu(UUR)) gene in the mitochondrial DNA. The family history, broad spectrum of clinical manifestations and fluctuant clinical course provided clues to the diagnosis. We discuss the possible mechanisms underlying the phenotypic variability and fluctuant clinical course of mitochondrial disorders and the potential usefulness of coenzyme Q10 and L-carnitine in 3243A>G mutation patients.