Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant - Case report and literature review.

Introduction: Generalized arterial calcification of infancy (GACI) is a rare cause of infantile heart failure and systemic hypertension with a poor prognosis, characterized by extensive calcification and proliferation of the intimal layer of large and medium sized arteries. Case report: We present the first case report of successful surgical treatment of severe aortic arch obstruction by calcified plaques mimicking severe coarctation of the aorta and the outcome (of bisphosphonate therapy) in a newborn with GACI. Furthermore, we report the identification of a variant in ATP Binding Cassette Subfamily C, Member 6 (ABCC6) gene, possibly associated with severe early-onset manifestations of GACI. Conclusion: This case report highlights the importance of considering GACI in an infant with heart failure, systemic hypertension, and evidence of increased echogenicity of the arterial vessels. We noted the favorable outcome in improving the aortic calcification in our patient after surgical treatment and bisphosphonates therapy. Early diagnosis and treatment improve the long-term prognosis. A better understanding of this rare genetic disease could lead to new therapeutic strategies.

Cardiac resynchronisation therapy in a pace-dependent infant with tetralogy of Fallot.

We present the case of a 5-month-old infant with tetralogy of Fallot and congenital atrio-ventricular block that developed severe left ventricular dysfunction during apical left ventricular pacing, in which cardiac resynchronisation therapy was used as an emergency procedure due to persistent low cardiac output syndrome.

Giant dissecting ventricular septal haematoma associated with critical congenital heart disease.

The occurrence of an haematoma in the interventricular septum is very rare. We report a case of a giant interventricular septal haematoma after surgical correction of a critical pulmonary valve stenosis in a newborn with intact ventricular septum. Control echocardiography showed complete resolution of the haematoma at 6-month follow-up.

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension.

BACKGROUND: Right ventricular function has been identified as an important prognostic factor in children with pulmonary arterial hypertension. The aim of the study was to assess the deformation pattern and prognostic value of right ventricular longitudinal strain in children with pulmonary arterial hypertension. METHODS: We prospectively evaluated 46 children (25 with pulmonary arterial hyperetension and 21 age and sex matched controls) using conventional and speckle-tracking echocardiography, brain natriuretic peptide levels and clinical status expressed by WHO functional class and 6-min walking test. According to the clinical status after 12 months of follow-up, the pulmonary arterial hypertension patients were divided in two groups: non-worsening (13) and worsening (12). RESULTS: Right ventricular free wall longitudinal strain and strain rate were significantly lower in children with PAH compared with controls (-24.72 ± 3.48 vs -15.60 ± 3.40, p = 0.0001 and -1.44 ± 0.09 vs -1.09 ± 0.15, p = 0.0001, respectively). There was a more expressed decrease of basal than apical region of right ventricular free wall longitudinal strain/strain rate in pulmonary arterial hypertension patients compared with controls (strain: p = 0.0001 vs p = 0.07 and strain rate: p = 0.0001 vs p = 0.002). Comparing worsening and non-worsening pulmonary arterial hypertension patients there was a significant difference in Mid right ventricular free wall longitudinal strain (-14.00 ± 3.13 vs. -20.76 ± 4.62, p = 0.0001). In multivariable logistic regression analysis Mid right ventricular free wall longitudinal strain was an independent predictor of worsening in pulmonary arterial hypertension children (OR 0.45; 95 % CI: 0.21-0.96, p = 0.041). In ROC curve analysis a cut-off value of Mid right ventricular free wall longitudinal strain of -18.50 % predicted clinical worsening in pulmonary arterial hypertension children, with a sensitivity and specificity of 91.7 and 30.8 %, respectively (area under curve = 0.88 ± 0.06, 95 % CI: 0.75-1.00, p = 0.001). CONCLUSIONS: Two-dimensional speckle-tracking echocardiography is a complementary non-invasive tool for assessment of right ventricular function in children with severe pulmonary arterial hypertension, allowing also clinical prediction and segmental analysis of right ventricular myocardial performance in these patients.

Three Rare Anomalies of the Large Vessels in an Infant with Tetralogy of Fallot.

Isolated left subclavian artery (LSA) from the pulmonary artery (PA) is a very rare vascular anomaly. We report a case of abnormal origin of the LSA from the PA via a very large ductus arteriosus (DA) in association with a rare communication between the left common carotid artery (LCCA) and the LSA in a patient with tetralogy of Fallot. doi: 10.1111/jocs.12770 (J Card Surg 2016;31:461-463).

Aneurysmal aorto-left ventricular tunnel causing right ventricular outflow tract obstruction, associated with bicuspid aortic valve.

We report the case of a newborn with an aneurysmal aorto-left ventricular tunnel causing significant paravalvular aortic regurgitation and obstruction of the right ventricular outflow tract (RVOT), coexisting with a bicuspid aortic valve. The coexistence of the two malformations together with the obstruction of the RVOT is very rare. In this case, the prompt diagnosis and surgery led to significant improvement of the clinical status and to recovery of the left ventricular function (increase of the ejection fraction from 21 to 41 %), underlining the importance of early diagnosis in this rare malformation.

Management of pulmonary arterial hypertension associated with congenital heart disease.

Congenital heart diseases are the most common congenital malformations and account for about eight cases per 1000 births and are often associated with pulmonary arterial hypertension. Increased shear stress and the excess flow through the pulmonary vascular bed due to a systemic-to-pulmonary shunt lead to the development of pulmonary vascular disease and an increase in pulmonary vascular resistance. Without surgical repair approximately 30% of patients develop pulmonary vascular disease. Eisenmenger syndrome represents the extreme end of pulmonary arterial hypertension with congenital heart disease. We summarized the current therapeutic options for pulmonary arterial hypertension; conventional treatments including calcium channel blockers, anticoagulation, digitalis, diuretics, and new treatment: prostacyclin, bosentan, sildenafil, ambrisentan. Preliminary data of new therapies are encouraging with disease significantly improved natural history, but there is need for more evidence-based data.