We describe 5 adults with tetralogy of Fallot and pulmonary atresia who developed lung abscesses, including some infected with atypical microbial pathogens, with important morbidity. We hypothesize that patients with such anatomy are at risk for chronic pulmonary infection due to hypo-perfusion of the pulmonary parenchyma. This previously unreported clinical association should be considered in the differential diagnosis of patients with tetralogy of Fallot and pulmonary atresia who alter their respiratory state.

A 9-month-old infant presented with fever, dyspnoea, and a murmur. Echocardiography showed a mitral vegetation with significant regurgitation. Mitral valve plasty was performed on day 6, and was polymerase chain reaction positive for Kingella kingae. The cardiac outcome was favourable. This case illustrates a subtle presentation of K. kingae mitral valve infective endocarditis in a normal-cardaic infant, treated with early surgery, and the agent belonged to the HACEK (Haemophilus spp Actinobacillus actinomycetemcomitans, Capnocytophaga spp, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae) group.

Prolonged fever, 5 days or more, is the cardinal feature of Kawasaki disease. We described a 5-year-old boy with initial presentations of fever, conjunctivitis, and strawberry tongue. The fever only lasted for 3 days. However, giant coronary aneurysms developed later. This patient reminds us that coronary complications could happen even the fever is less than 5 days. Criteria of fever duration might need reconsideration.

Dysfunction of the autonomic nervous system, or dysautonomia, is an uncommon disease. Postural orthostatic tachycardia syndrome is one of the several types of dysautonomia. Postural orthostatic tachycardia syndrome, also known as chronic orthostatic intolerance, is the most common but least severe of the dysautonomic disorders; it will serve as the model for evaluation and management of the other dysautonomias. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that observed in typical neurocardiogenic syncope. Frequently, providers are not familiar with either the evaluation or the management of this syndrome, or are just not interested in doing so. This article attempts to describe strategies for evaluation and management of postural orthostatic tachycardia syndrome. The diagnosis of postural orthostatic tachycardia syndrome is made by the finding of orthostatic intolerance associated with a pulse greater than 120 beats per minute in the first 10 minutes of upright position or an elevation in pulse greater than 30 beats per minute in the first 10 minutes of upright position. Overall, these patients can have variable dysfunction of the autonomic nervous system that is more severe than that seen in typical neurocardiogenic syncope. A wide variety of associated symptoms may exist and these symptoms can have tremendous impact on the lives of the patients and their families. Management of these patients can be difficult as well as rewarding. It is helpful to perform an extensive education up front with these patients and their families. Interventions for patients with postural orthostatic tachycardia syndrome typically fall into two broad categories: non-pharmacological and pharmacological. Non-pharmacological therapies are varied, but are based primarily on ensuring adequate status of intravascular fluid. Polypharmacy may be required to control symptoms associated with postural orthostatic tachycardia syndrome. On account of the severity of their symptoms, these patients frequently have difficulty in completing their school assignments. The physician may need to help support the attempts of the family to work with the school to help the patient stay in school. As postural orthostatic tachycardia syndrome is underdiagnosed and poorly understood, it is a disease that provides an excellent opportunity to perform research. The most important studies would be those that aim to elucidate an aetiology and a pathophysiology of postural orthostatic tachycardia syndrome. In the final analysis, the role of the cardiologist in the evaluation and management of a patient with dysautonomia is to help a patient with severe disability to feel as if they are normal, or much closer to it.

A 2-month-old baby was resuscitated from ventricular fibrillation attributed to a concurrent chaotic atrial tachycardia with Wolff-Parkinson-White syndrome. He underwent successful radiofrequency catheter ablation of an accessory pathway. Throughout the 4-year follow-up after the procedure, the boy remained free of any drugs, was in sinus rhythm without ventricular pre-excitation and his growth and development were normal.

We extracted L., the newborn of a diabetic mother, for antenatal diagnostic of myocardial hypertrophy and anomaly of foetal heart rate. Post-natal echocardiography showed severe septal myocardial hypertrophy with latero-basal myocardial akinesia. We did not observe a Doppler gradient through the left ventricular outflow. Selective coronary angiography showed an occlusion of the circumflex artery. Myocardial hypertrophy is a classic complication in newborns of diabetic mothers. The mother’s diabetes and neonatal infarction remain an exceptional association. We discuss a different hypothesis to explain coronary occlusion and how myocardial infarction avoided septal obstruction.

Loeys-Dietz syndrome is a newly recognized constellation that presents with aortic aneurysm or dissection similar to Marfan’s syndrome. We describe successful surgical treatment in a 2-year-old with the syndrome in whom we performed a valve-sparing replacement of the aortic root because of significant dilation of the aortic root and the ascending aorta.

The promise of the electronic health record is to provide multiple functions including the ability to easily share information among providers, the ability to order studies, the ability to improve the safety of patients, and the ability to coordinate plans of care. Efforts to achieve these goals face multiple challenges including large expenditures of money, large expenditures of time and effort, and a persistent communication gap between the designers and the users of these electronic medical records.

We describe our experience with the closure of a synthetic Blalock–Taussig shunt using an Amplatzer vascular occluding device placed with the aid an exteriorised guidewire loop in an infant with congenital cardiac disease. The technique used in a neonate and the physiological benefits of this approach are discussed. We highlight the extended use of the Amplatzer vascular plug in this clinical setting and the advantages of using and the exteriorised guidewire loop for its placement.

Woven coronary artery disease is an extremely rare congenital abnormality with unusual findings of branching thin channels and distal reanastomosis. This pathologic finding was reported earlier in a few adult patients. In Kawasaki disease, coronary arterial system is commonly affected, which causes a necessity of cardiac imaging. We report a 9-month-old infant with Kawasaki disease in which left coronary artery aneurysm and woven right coronary artery were coincidentally detected during coronary angiography. After 1 year, coronary angiogram was re-performed and showed no changes in the coronary arteries. During the follow-up period of 4 years, the patient remained asymptomatic. In Kawasaki disease, there is a tendency for thrombus formation and a woven coronary artery can be easily misinterpreted as a thrombus. Woven coronary artery is a benign condition and it should not be confused with a thrombus or a stenosis related finding which needs a medical or surgical intervention.

Kawasaki disease is an acute febrile vasculitis of infancy and early childhood. It is uncommon in early infancy, because a significant proportion of these children do not meet the classical diagnostic criteria at this age. Infants younger than 6 months with persistent fever and some of the criteria of Kawasaki disease should always raise suspicion for Kawasaki disease early to avoid delayed diagnosis with severe cardiac complications. We present a 35-day-old infant with incomplete Kawasaki disease complicated with myocardial infarction during chicken pox.

Patient-reported outcomes are “any outcome based on data provided by patients or patient proxy as opposed to data provided from other sources”. Examples of patient-reported outcomes are quality of life, well-being, functional status, symptoms, adherence to treatment, satisfaction with treatment, and utility or preference-based measures. The main question of this manuscript is whether patient-reported outcomes in patients with congenital cardiac disease are as good as we think they are. In general, we could say yes, because numerous studies show that patients with congenital cardiac disease have an excellent quality of life. By contrast, we could say no, because patients generally overestimate their functioning, and up to two out of three patients are not compliant with the prescribed therapy or recommendations for follow-up. However, most importantly, we have to say that we do not know whether the patient-reported outcomes are good, because research with patient-reported outcomes in congenital cardiac disease is limited. Hence, patient-reported outcomes should be a priority on the agenda for research in the domain of congenital cardiac disease.

Cystinosis is a rare autosomal recessive metabolic disorder characterised by an intracellular accumulation of cystine leading to severe organ dysfunction. It affects renal function, has extra-renal complications but has rarely been associated with cardiac disease. Renal transplantation and cysteamine have dramatically improved the prognosis in the nephropathic form. We present the case of a young adult Caucasian female diagnosed with nephropathic cystinosis and receiving haemodialysis who subsequently developed dilated cardiomyopathy. She presented with acute cardiac failure occurring early after stillbirth following an unplanned pregnancy when her cysteamine had been stopped. Transthoracic echocardiography showed typical features of dilated cardiomyopathy which was absent on pre-pregnancy scans. Investigations failed to identify an underlying cause for her cardiomyopathy. She responded to conventional treatment and currently has had full recovery of her cardiac function confirmed on follow-up echocardiography. As cardiomyopathy rarely co-exists with cystinosis, we believe that this case represents pregnancy-associated cardiomyopathy rather than direct involvement by her cystinosis, particularly as a minority of pregnant patients with associated cardiomyopathy develop heart failure early before the conventional period for peripartum cardiomyopathy. Patient characteristics and maternal outcomes are similar, albeit with higher risk of premature delivery suggesting the same underlying pathological process.

An absent ductus venosus is a rare anomaly which results aberrant umbilical venous return. The fetus which is defined here referred to our clinic at 30th gestational week because of cardiomegaly. The diagnosis of ductus venosus agenesis and anomalous umbilical venous return was done by fetal echocardiography. The fetus has two unique features. The drainage of anomalous umbilical vein into the superior vena cava and associated persistent truncus arteriosus have not been reported yet in fetuses with absent ductus venosus.

A one-month-old boy, with type-II mucolipidosis, presented with congestive heart failure and elevated cardiac enzymes. The atretic nature of the orifice of the left coronary artery was revealed by retrograde flow on color Doppler and selective coronary angiography. Type-II mucolipidosis and atresia of the left coronary artery are rare. To the best of our knowledge, this is the first report of their combined occurence, suggesting a possible causal relationship.