Unusual cause of left ventricular dysfunction in a child. / Causa rara de disfunção ventricular esquerda em idade pediátrica.

Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery is a rare congenital heart disease and a cause of myocardial ischemia during childhood. Most undiagnosed cases die in the first year of life as an extensive collateral network is essential for survival. The diagnosis requires a high index of clinical suspicion. The authors present the case of an 8-year-old black asymptomatic child referred from Cape Verde Island in order to clarify left ventricular dilatation and dysfunction with systo-diastolic turbulent flows observed at the interventricular septum. At the age of 3 months, she was diagnosed with heart failure, in the context of showing dilated cardiomyopathy. She was managed and clinically improved with anticongestive therapy, which she was still taking at the time of admission to our Center. The echocardiogram findings suggested Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery and the diagnosis was confirmed by computerized angiotomography and cardiac catheterization. The patient was successfully submitted to direct implantation of the left coronary artery into the aorta, allowing the creation of a double coronary perfusion system. This case illustrates an unusual presentation of a rare pathology that survived without a diagnosis after the first year of life. It also reinforces the importance of multimodality image screening in these cases.

Importance of ambulatory blood pressure monitoring in the diagnosis and prognosis of pediatric hypertension. / Importância da monitorização ambulatória da pressão arterial no diagnóstico e prognóstico da hipertensão arterial em idade pediátrica.

The prevalence of high blood pressure (BP) at pediatric age has increased progressively, one of the causes of which is obesity. However, the dominant etiology in this age group is renal and/or cardiovascular pathology. Ambulatory blood pressure monitoring (ABPM) is the method of choice for the diagnosis of hypertension, especially in children at high cardiovascular risk. Its use is limited to children from five years of age. Choosing appropriate cuff size is key to obtaining correct blood pressure. The main indication for ABPM is to confirm the diagnosis of hypertension. It also allows the diagnosis of white coat hypertension (which may represent an intermediate stage between the normotensive phase and hypertension), or masked hypertension, associated with progression to sustained hypertension and left ventricular hypertrophy (LVH). Children with isolated nocturnal hypertension should be considered as having masked hypertension. BP load is defined as the percentage of valid measurements above the 95th percentile for age, gender, and height. Values above 25-30% are pathological and those above 50% are predictive of LVH. ABPM correlates with target organ damage, particularly LVH and renal damage. It is useful in the differentiation of secondary hypertension, since these children show higher BP load and less nocturnal dipping, and confirmation of response to therapy. Thus ABPM allows the diagnosis and classification of hypertension, provides cardiovascular prognostic information and identifies patients with intermediate phenotypes of hypertension.

Abdominal pain of cardiovascular origin.

Infective endocarditis is a microbial infection of the endocardium and it is rare in the pediatric population. In children, congenital heart disease is one of the most important risk factors for developing infective endocarditis and can involve other structures in addition to cardiac valves. The prognosis is generally better than in other forms of endocarditis, although the average mortality rate in the pediatric population is 15-25%. Clinical manifestations can mimic other diseases such as meningitis and collagen-vascular disease or vasculitis. Therefore, a high degree of suspicion is required to make an early diagnosis. Gram-positive bacteria, specifically alpha-hemolytic streptococci, Staphylococcus aureus and coagulase-negative staphylococci, are the most commonly involved bacteria. Diagnosis is based on the modified Duke criteria, which rely mostly on clinical assessment, echocardiography and blood cultures. Antibacterial treatment should ideally be targeted. However, if no specific bacteria have been identified, patients should promptly be treated empirically with multiple drug regimens based on local resistance and the most common etiologies. The authors describe a case of a seven-year-old girl with classic clinical signs of endocarditis, with a clinical twist.

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. Increased levels of very long chain fatty acids are the biochemical hallmark and the most common mutations found in the PEX1 gene. We report an unusual presentation of Zellweger syndrome in a 2-month-old female infant with severe malnutrition, opportunistic infections, lymphopaenia and a small thymic shadow on chest radiography. With this clinical picture, an initial hypothesis of primary immunodeficiency was considered. It was later confirmed to not be the case. On follow-up, global developmental delay, bilateral optic nerve atrophy and moderate bilateral sensorineural deafness grade II were documented. There were no further infectious complications and we concluded malnutrition was the cause of the infant's immunocompromised state.