Heart Transplantation in a 14-Year-Old Boy in the Presence of Severe Out-of-Proportion Pulmonary Hypertension due to Restrictive Left Heart Disease: A Case Report.

A 14-year-old boy after balloon valvuloplasty of severe aortic valve stenosis in the neonatal period was referred for heart-lung transplantation because of high grade pulmonary hypertension and left heart dysfunction due to endocardial fibroelastosis with severe mitral insufficiency. After heart catheterization, hemodynamic parameters were invasively monitored: a course of levosimendan and initiation of diuretics led to a decrease of pulmonary capillary wedge pressure (from maximum 35 to 24 mmHg). Instead of an expected decrease, mean pulmonary artery pressures (mPAP) increased up to 80 mmHg with increasing transpulmonary pressure gradient (TPG) up to 55 mmHg. Oral bosentan and intravenous epoprostenol then led to a ~50% decrease of mPAP (TPG between 16 and 22 mmHg). The boy was listed solely for heart transplantation which was successfully accomplished 1 month later.

Acute lung failure during mechanical circulatory support.

The use of venoarterial extracorporal membrane oxygenation and ventricular assist-devices in children with end stage heart failure is well established. The use of a bridge-to-bridge strategy leads to excellent survival rates in pediatric patients. We present an adolescent, who acquired acute respiratory failure, due to possible transfusion related lung injury, and who was successfully treated with venovenous extracorporal membrane oxygenation while on ventricular assist-device support.

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

OBJECTIVE: To investigate electrophysiological and functional signs of myocardial damage in patients with propionic acidemia (PA), an inborn error of metabolism caused by deficiency of propionyl CoA carboxylase (PCC). STUDY DESIGN: In an observational longitudinal study 10 patients with PA (6 boys and 4 girls) ranging between 2.5 and 20.2 (median 9.0) years of age at last follow-up were investigated over a period of up to 20 (mean 7.4) years using 12-lead electrocardiograms (ECGs), 24-hour continuous ECG recordings, bicycle exercise testings, and echocardiography with special focus on repolarization abnormalities such as corrected QT interval (QTc) prolongation, ventricular dysrhythmias, and left ventricular systolic function. RESULTS: QTc interval was prolonged (>440 ms) in 70% of patients beyond infanthood. Continuous ECG recordings revealed rhythm disturbances in 20% of patients. M-mode echocardiographic left ventricular function was reduced (fractional shortening [FS] <30%) in 40%. One patient showed signs of dilated cardiomyopathy. CONCLUSIONS: The majority of patients with PA (even in clinically stable situations) have disturbances in cardiac electrophysiology that can contribute to cardiac complications. Possible mechanisms include effects of toxic metabolites or deprivation of essential substrates. To avoid life-threatening complications, we recommend regular cardiological evaluations in this group of patients.

Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study.

OBJECTIVE: Aortic complications determine the life expectancy of most patients with Marfan syndrome. To find out whether there is heterogenous aortic involvement among patients and, if there is, to characterize aortic patterns and response to long-term beta-blocker therapy, we investigated aortic elastic properties before and during beta-blocker treatment. METHODS: In 46 patients with Marfan syndrome (age, 17.4 +/- 11.1 years) and 46 healthy control subjects, ascending and descending aortic elastic parameters were determined noninvasively before and after 39 +/- 16 months of beta-blocker treatment with atenolol. RESULTS: Aortic diameters and distensibility distinguished Marfan patients and controls with a sensitivity of 85% and a specificity of 87%. Cluster analysis revealed 4 patterns of aortic phenotypic expression: (1) reduced ascending aortic elasticity (46% of patients), (2) diminished ascending and descending aortic elasticity (17%), (3) minimal alterations of ascending and descending aortic elasticity (20%), and (4) reduced descending aortic elasticity (17%). During follow-up, aortic elastic properties improved in 21 (70%) of 30 patients and deteriorated in 9 (30%) irrespective of beta-blocker dosage. Improvement was observed in 100% of patients (n = 7; age, 5.3 +/- 4.2 years) with end-diastolic aortic root diameters between 20 and 30 mm and in 61% of patients (14/23; age, 20.5 +/- 10.0 years) with root diameters between 30 and 52 mm. CONCLUSIONS: Aortic elastic parameters distinguish between patients with Marfan syndrome and healthy controls and show the pattern of regional aortic involvement. Improvement or deterioration during follow-up can influence therapeutic decisions to prevent aortic dissection and rupture. Young age, small root diameter, and high distensibility are favorable prognostic factors.

Reduced aortic elastic properties in a child with Takayasu arteritis: case report and literature review.

UNLABELLED: Takayasu arteritis (TA) is a chronic inflammatory vasculitis of the aorta and its major branches with a very low incidence in Europe and North America. Our objective was to determine the elastic properties of the affected ascending and descending aortic walls non-invasively in a 14-year-old Iraqi girl with a 3-year history of fever, fatigue, malaise and diffuse pain. Ultrasound and magnetic resonance angiography showed marked thickening of the aortic wall, dilatation of the aortic arch, and decreased luminal diameters of the abdominal aorta and both subclavian arteries, consistent with TA. Ascending and descending aortic elastic properties such as distensibility and stiffness index were markedly reduced compared to a group of healthy controls (n=39): ascending aortic distensibility was 20 kPa(-1) x 10(-3) versus 63+/-23 kPa(-1) x 10(-3) in controls, and the ascending aortic stiffness index 9.6 versus 3.5+/-1.3 in controls. Although the patient's general condition improved rapidly on oral prednisolone and azathioprine and inflammatory parameters normalised within 3 weeks, the aortic elastic parameters did not change during the first 2 weeks of anti-inflammatory treatment. Unfortunately, no further follow-up was possible. CONCLUSION: In patients with Takayasu arteritis, non-invasive quantification of reduced aortic elastic properties can help to assess aortic involvement, and possibly to follow disease activity and vascular response to therapy.

Interventional occlusion of a large pulmonary arteriovenous malformation with an Amplatzer septal occluder.

Interventional occlusion of pulmonary arteriovenous malformations with large feeding arteries may be associated with an increased risk of device embolization. In a 40-year-old patient with a solitary pulmonary arteriovenous malformation one large feeding artery was successfully closed by means of an Amplatzer septal occluder and detachable coils. The use of an Amplatzer septal occluder should be considered as an alternative therapeutic option in cases of huge pulmonary arteriovenous malformation to reduce the risk of device embolization.

Transesophageal echocardiography for quantifying size of patent foramen ovale in patients with cryptogenic cerebrovascular events.

BACKGROUND AND PURPOSE: Patent foramen ovale (PFO) is a risk factor for paradoxical embolism, and severe shunting and wide opening of PFO are risk factors for severe and recurrent cerebrovascular events. Neither contrast echocardiography nor 2-dimensional (2D) measurement of PFO size have been validated or compared with invasive balloon sizing. METHODS: We performed transesophageal echocardiography (TEE) in 100 patients with cryptogenic stroke and catheter closure of PFO. The amount of contrast shunting through the PFO during cubital and femoral contrast delivery and the PFO size measured by 2D TEE were compared with balloon sizing. RESULTS: There was a significant correlation (r(2)=0.8; P<0.0001) between 2D TEE measurement and invasive balloon sizing. Mean balloon-sized PFO diameter was significantly larger than mean PFO diameter measured by 2D TEE (8.3+/-2.6 versus 5.2+/-1.7 mm). Semiquantitative contrast TEE correlated with PFO size (r(2)=0.7; P<0.0001) only if the contrast agent was administered through a femoral vein. Correlation was poor when the contrast agent was administered via a cubital vein. CONCLUSIONS: We conclude that 2D TEE measurement of a PFO size is more accurate than the traditionally used contrast technique.