Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.

A Double Lane for a Better Circulation: Percutaneous Duplication of the Thoracic Aorta in a Child.

Aortic arch interruption or atresia consists in a complete loss of anatomical and luminal continuity between the ascending and descending thoracic aorta. It is usually diagnosed in newborn babies but may also be present in young children, adolescents, adults and elderly patients. In these cases, it can be congenital or more frequently acquired. This latter type of aortic arch atresia is a challenge, and surgery is usually the treatment of choice. Percutaneous approaches are also possible today. We describe a case of percutaneous aortic arch reconstruction in a 9-year-old boy.

Long-term outcome after percutaneous closure of persistent left superior caval vein draining into the left atrium: a contrast-enhanced CT study.

BACKGROUND: Data regarding long-term outcome after percutaneous closure of left superior caval vein draining into the left atrium are lacking. The aim of the present study was to report the long-term follow-up by using contrast-enhanced CT. METHODS: In all, three patients underwent percutaneous closure of left superior caval vein draining into the left atrium between 2005 and 2015. All of them were evaluated clinically and underwent contrast-enhanced CT. RESULTS: In one patient, the Amplatzer® Septal Occluder was used. In two patients, the Amplatzer® Vascular Plug type-1 was preferred: the device size/LSVC diameter ratio was 1.7 in the child and 1.2 in the adult. There were no early-onset or long-term onset complications. CT was performed 1, 2, and 10 years after the procedure, respectively. Complete occlusion of the vessel was documented in all. After 10 years since the procedure, CT revealed a persistent trivial residual shunt through the accessory hemiazygos vein in one patient, in whom the device was implanted above its drainage into the left superior caval vein. When an Amplatzer® Vascular Plug type-1 is oversized compared with the venous vessel diameter, it immediately assumes a dog-bone shape that disappears early to regain its shape memory and nominal size. CONCLUSIONS: Percutaneous occlusion of left superior caval vein draining into the left atrium has excellent early and long-term outcomes. The optimal implantation of the device is below the drainage of the accessory hemiazygos vein, when present. The device might be oversized compared with the left superior caval vein diameter according to the age of the patient.

Transfemoral Valve-In-Valve in a Degenerated Small Aortic Bioprosthesis: Five-Year Follow Up.

A small-sized bioprosthesis can limit transcatheter valve-in-valve (V-in-V) implantations. The case is reported of a 91-year-old woman who had successfully undergone a V-in-V procedure with a 26 mm CoreValve in a previously implanted Mitroflow 19 mm valve. At the five-year follow up the prosthesis showed good echocardiographic function and the patient was alive and free from major symptoms. The patient died three months after the follow up examination at the age of 96 years. This case demonstrates the feasibility, with acceptable longterm functioning, of a V-in-V procedure involving a small bioprosthesis. To the authors' knowledge, the present report is the longest follow up of a patient who underwent V-in-V transcatheter aortic valve implantation in a 19 mm bioprosthesis (15.4 mm internal diameter). Video 1: Preoperative aortography showing moderate-to-severe aortic regurgitation. Video 2: Pre-implantation aortic balloon valvuloplasty. Video 3: Post-deployment aortography showing moderate-to-severe aortic regurgitation. Video 4: The final result. After post-dilation of the under-expanded 26 mm CoreValve, the aortic regurgitation is slightly reduced.

[Preliminary results and future perspectives of the Piedmont Adult Congenital Heart Disease Registry]. / Risultati iniziali e prospettive future del Registro Piemontese delle Cardiopatie Congenite dell'Adulto.

BACKGROUND: Adults with congenital heart disease are a relatively new population that progressively increases in size and complexity. In Italy, there are no accurate data concerning the distribution of congenital defects and the long-term outcome relating to both congenital heart disease per se and comorbidities, due to the aging process. METHODS: The Piedmont Adult Congenital Heart Disease Registry has been designed to investigate these aspects and to support a high quality healthcare development for grown-up congenital heart patients. Within 2 years, 459 consecutive patients routinely followed in 10 divisions of cardiology in Piedmont were included in the project. Electronic dedicated software has supported data collection. RESULTS: Mean age of patients is 35 ± 16 years. Septal defects are the most common type of congenital heart disease (35.3%). At baseline evaluation, 71.7% of patients reported a previous surgical and/or percutaneous treatment and 6.3% an electrophysiological procedure. Freedom from intervention is 44%, 81% and 56% at the age of 18, 30 and 45 years, respectively. Patients who had a treatment during infancy show a better intervention-free survival (p=0.038) compared with patients treated during adulthood. Despite the majority of the population had an almost preserved functional status, 27.5% had ≥1 long-term sequelae (arrhythmias 27.5%; pulmonary hypertension 5.2%; neurological problems 4.1%; cyanosis 4.8%; liver dysfunction 2.4%; enteropathy 2.4%; lung disease 2.2%). During 2 years of follow-up, the estimated mortality rate is 0.88%. CONCLUSIONS: Adults with congenital heart disease are a heterogeneous population of relatively young patients with relevant clinical and social problems. The late sequelae related to both the underlying heart disease and the advancing age require continuous monitoring and lifelong specialized care.

Fontan circulation causes early, severe liver damage. Should we offer patients a tailored strategy?

BACKGROUND: In patients with Fontan circulation, the liver is profoundly affected by chronic venous stasis. Little is known about early hepatic changes in this population. METHODS: We performed echocardiography, abdominal ultrasound, liver elastography, cardiac catheterization, esophago-gastro-duodenoscopy and calculated MELD-XI score in 64 Fontan patients (69% minors), at an interval of 1-15years since Fontan. RESULTS: Cardiac output remained stable in the first 5years after Fontan, then significantly decreased (r=-0.45, p(r=0)=0.003). NYHA class significantly increased after Fontan. Patients in NYHA class II/III (n=21, 14 minors) had significantly higher hepatic pressures, but normal ventricular function and pulmonary vascular resistances (PVR). Patients with pulmonary arterial pressure (PAP) ≥15mmHg (n=12, 6 minors) and those with PVR≥2WU*m(2) (n=27, 25 minors), had higher hepatic pressures (p<0.0001), a higher incidence of liver collaterals and/or esophageal varices (p<0.0001) and splenomegaly (p<0.02). Liver stiffness (LS) was elevated in most patients (median, 25th-75th percentile:17.3KPa, 14.1-21.4). It rapidly increased during the first 5-years after Fontan, compared to the following 5-years (from 12.2KPa, 9.8-14.1 to 17.5KPa, 14.3-24.5, p=0.007), then remained stable (19.1KPa, 16.9-22.6, p=0.60). MELD-XI score increased linearly with the time interval since Fontan (r=0.31, p(r=0)=0.01). For patients above 12years we found a linear correlation between LS and MELD-XI score in the 6-15years period after Fontan (r=0.40. p(r=0)=0.04). The overall incidence of established liver cirrhosis was 22%. CONCLUSIONS: This is the largest study showing that Fontan circulation prompts early, progressive and eventually irreversible liver damage. Precautions should be taken immediately after Fontan, to protect this fragile population.

Off-label use of the amplatzer ductal occluder II additional size for percutaneous closure of congenital and acquired coronary fistulae.

We report two cases in which congenital and acquired fistulae (CAFs) have been successfully closed by using the Amplatzer Ductal Occluder (ADO) II AS in children. Because of the flexibility, small profile and short length of ADO II AS, this device proved to be an excellent option in case of tortuous and short CAFs with coronary branches next to the fistulous orifice. © 2015 Wiley Periodicals, Inc.

Iatrogenic "aortopulmonary window": percutaneous rescue closure as a bridge to surgical repair.

We present the case of a 15-year-old boy who underwent arterial switch operation due to transposition of the great arteries with severe scoliosis, obstruction of the right coronary ostium, and severe stenosis of the pulmonary trunk. Balloon angioplasty caused a large aortopulmonary shunt provoking myocardial ischaemia and pulmonary hypertension. The traumatic "aortopulmonary window" was percutaneously occluded using an Amplatzer Septal Occluder device as a bridge to surgical repair.

Percutaneous closure of atrial septal defect in adults: very long-term clinical outcome and effects on aortic and mitral valve function.

AIM: To investigate the very long-term clinical outcomes of atrial septal defect (ASD) percutaneous closure in adult patients and to evaluate the 12-month effects of the device on aortic and mitral valve function. METHODS: Over a 12-year period, a total of 110 consecutive patients underwent percutaneous ASD closure. A yearly clinical follow-up was conducted and any adverse event was recorded. In a 55-patient echocardiographic subgroup, the baseline and 12-month aortic and mitral regurgitation rate was recorded. RESULTS: Mean age was 50.9 ± 17 years and 75% of patients were female. Mean ASD echocardiographic dimension was 17.6 ± 6.2 mm (range, 5-36 mm). Procedural success rate was 97%. After a mean follow-up of 61.8 ± 34.9 months (range, 6-167 months), all-cause death occurred in 2 patients (1.8%) and the composite primary outcome of major adverse cardiovascular event (MACE) occurred in 5 patients (4.5%): 2 non-device related cardiac deaths occurred and 3 surgeries were required. The Kaplan-Meier analysis showed an event-free survival at 140 months of 90%. In the 12-month echocardiographic substudy, no case of significant (moderate or severe) new-onset aortic regurgitation was detected, while 1 case (1.8%) of worsening mild-to-moderate aortic regurgitation was described (P=.90). No case of significant new-onset or worsening mitral regurgitation was noted. No patient needed aortic or mitral surgical repair at very long-term follow-up. CONCLUSIONS: Transcatheter ASD closure is a safe procedure with satisfactory very long-term clinical outcomes. The ASD device does not significantly affect aortic and mitral valve function.

Impact of diabetes mellitus on early and midterm outcomes after transcatheter aortic valve implantation (from a multicenter registry).

Several clinical and procedural factors have been identified as predictors of early and midterm events after transcatheter aortic valve implantation (TAVI), but incidence and prognostic impact of diabetes mellitus (DM), especially insulin treated, on short- and midterm outcomes remain to be defined. All consecutive patients who underwent TAVI at our institutions were enrolled and stratified according to DM status. All-cause mortality at 30 days or in hospital and at follow-up was the primary end point, whereas periprocedural complications, rates of myocardial infarction, stroke, and reintervention at follow-up were the secondary ones. All end points were adjudicated according to the Valve Academic Research Consortium definitions. In all, 511 patients were enrolled: 361 without DM, 78 with orally treated DM, and 72 with insulin-treated DM. Orally treated DM patients were more frequently women, whereas insulin-treated DM patients were younger. Thirty-day Valve Academic Research Consortium mortality was not significantly higher in patients with orally treated DM and insulin-treated DM compared with patients without diabetes (6.4%, 9.7%, and 4.7%, p = 0.09). Bleedings, vascular complications, postprocedural acute kidney injury, and periprocedural strokes were not significantly different in the 3 groups. At midterm follow-up (median 400 days), patients with insulin-treated DM had a significantly higher mortality rate (33.3% vs 18.6%, p = 0.01) and higher myocardial infarction incidence (8.3% vs 1.4%, p = 0.002) if compared with patients without diabetes. Strokes and reinterventions at follow-up were similar in the 3 groups. After multivariable adjustment, insulin-treated DM was independently correlated with death (hazard ratio 2, 95% confidence interval 1.3 to 3.3) and myocardial infarction (hazard ratio 3.73, 95% confidence interval 1.1 to 13). In conclusion, DM does not significantly affect rates of complications in patients who underwent TAVI. Insulin-treated DM, but not orally treated DM, is independently associated with death and myocardial infarction at midterm follow-up and should be included into future TAVI-dedicated scores.

Association among oral health, apical periodontitis, CD14 polymorphisms, and coronary heart disease in middle-aged adults.

INTRODUCTION: There is evidence to suggest that an association exists between oral infections and coronary heart disease (CHD). Subjects presenting lesions of endodontic origin (LEOs) or pulpal inflammation had an increased risk of developing CHD. However, findings concerning systemic manifestations of apical periodontitis (AP) remain controversial. An association between CD14 gene polymorphisms and atherosclerosis-associated diseases has been shown, but there are no data regarding an association between CD14 polymorphism and AP. This study evaluated associations between clinical oral health status, CD14 polymorphisms, and CHD. METHODS: A case-controlled clinical trial was designed to compare middle-aged adults with acute myocardial infarction or unstable angina (n = 51) within 12 months of the acute event defined as first manifestation with healthy controls (n = 49). Participants were matched for age, sex, and socioeconomic status. Indicators of oral disease and compliance were evaluated. CD14 polymorphisms were analyzed by restriction fragment length polymorphism-polymerase chain reaction. RESULTS: CHD subjects had a higher prevalence of oral diseases and lower compliance to oral preventive strategies than healthy controls. Multivariate analysis showed a positive association between missing teeth (odds ratio [OR] = 1.37; 95% confidence interval [CI], 1.02-1.85), the number of LEOs (OR = 4.37; 95% CI, 1.69-11.28), chronic periodontitis (OR = 5.87; 95% CI, 1.17-29.4), and CHD. No statistically significant association emerged between the CD14 C(-260)T and the CD14 C(-159)T polymorphism, endodontic or periodontal disease, and CHD. CONCLUSIONS: Chronic oral diseases may increase the risk of CHD and may be an unconventional risk factor for CHD.

Altered nitric oxide/cGMP platelet signaling pathway in platelets from patients with acute coronary syndromes.

This study was aimed at evaluating whether the nitric oxide (NO)/cyclic GMP (cGMP) signaling pathway is altered in platelets from patients with an acute coronary syndrome (unstable angina and acute myocardial infarction). We investigated 10 patients with unstable angina (UA), 14 with acute myocardial infarction (AMI) and 14 age and sex-matched healthy subjects. The serum markers of platelet activation (sP-selectin), inflammation (TNF-alpha and erythrocyte sedimentation rate), thrombotic state (fibrinogen) and plaque disruption were significantly higher in both UA and AMI patients compared to the healthy controls. In their platelets we assessed the cGMP levels in basal conditions and after stimulation with sodium nitroprusside (SNP), and performed Western blot analysis of homogenates to measure the expression of soluble guanylate cyclase isoforms. Basal levels of cGMP (pmol/10(10) platelets) were significantly higher in platelets from UA patients (1,097 +/- 111; p < 0.0001) and AMI (1,122 +/- 77; p < 0.0001) compared to those collected from healthy controls (497 +/- 80). The platelets of AMI patients exhibited a lack of cGMP increase after SNP stimulation in comparison with UA patients. The phosphorylation of upstream (Akt1 protein kinase alpha and endothelial NO synthase) and downstream (vasodilator-stimulated phosphoprotein, VASP) signaling proteins of the NO/cGMP pathway was investigated: serine phosphorylation in Akt1, eNOS and VASP was enhanced in platelets from UA and AMI patients when compared to controls. Furthermore, in AMI patients the inhibitors of guanylate cyclase and cGMP-dependent protein kinase did not revert the VASP phosphorylation. These data suggest that platelets from AMI patients are more resistant to SNP stimulation, not only as cGMP production, but also in terms of VASP activation. From these ex vivo results we hypothesize that the increased inflammatory state which often accompanies patients with cardiovascular diseases might promote a platelet preactivation resulting in their reduced sensitivity to NO.