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Caring for adults with congenital heart disease in a regional setting.

Aust J Rural Health. 2018 Nov 19;:

Authors: O'Brien EM, Law D, Celermajer D, Grant PW, Waites J

OBJECTIVE: The number of adults with congenital heart disease has increased with improvements in surgical and medical management, posing a challenge for regional and rural settings, which might have difficulties accessing specialised professionals with congenital heart disease services. This study aims to ascertain the demographics and management of adults with congenital heart disease seen by a cardiology practice in regional Australia to better understand the needs of regional adults with congenital heart disease.
DESIGN: A descriptive study using data from clinical notes collected between April 2013 and April 2016.
SETTING: A private cardiology practice in Coffs Harbour, New South Wales. The practice has a treating cardiologist, senior sonographer, visiting cardiothoracic surgeon and visiting paediatric cardiologist.
PARTICIPANTS: One-hundred-and-one adults with congenital heart disease (age: 16-88 years; 55 women).
MAIN OUTCOME MEASURES: Congenital heart disease defect, lesion severity, referral reason, past surgery, pulmonary hypertension, cardiac surgery during the study, mortality, adherence with follow-up plans and specialist referral.
RESULTS: Sixty-six patients had simple congenital heart disease, 24 had congenital heart disease of moderate complexity and 11 had congenital heart disease of great complexity. Most were referred for surveillance, seven were referred due to pregnancy and eight were new diagnoses. Six patients died, nine had cardiac operations and five were treated for pulmonary arterial hypertension. Overall adherence to the treating cardiologist's follow-up plans was 84%. All patients with congenital heart disease of great complexity were referred to congenital heart disease specialists.
CONCLUSION: A substantial number of patients had complex pathology, new diagnoses or required surgery, highlighting the importance of developing integrated services with the close support of outside specialists in managing adults with congenital heart disease in regional settings.

PMID: 30456832 [PubMed - as supplied by publisher]

How to evaluate patients with congenital heart disease-related pulmonary arterial hypertension.

Expert Rev Cardiovasc Ther. 2018 Nov 20;:

Authors: Ntiloudi D, Zanos S, Gatzoulis MA, Karvounis H, Giannakoulas G

INTRODUCTION: Patients with congenital heart disease (CHD), who develop pulmonary arterial hypertension (PAH), live longer and have better quality of life compared to the past due to PAH specific therapy and improved tertiary care. Areas covered: Clinical examination, objective assessment of functional capacity, natriuretic peptide levels, cardiac imaging and haemodynamics all play a pivotal role in the evaluation, general care and management of PAH specific therapy. This review discusses the epidemiology and pathophysiology of PAH-CHD, and provides hints for the optimal evaluation of these patients. Expert commentary: Further research should be performed in the field of PAH-CHD, as there are many of areas lacking evidence that should be addressed in the future. Networking, especially among the tertiary expert centres, could play a key role in this direction.

PMID: 30457398 [PubMed - as supplied by publisher]

Pharmacoeconomic Review Report: Selexipag (Uptravi)

Book. 2017 09


Selexipag (Uptravi) is a prostacyclin (PGI2) receptor (IP receptor) agonist indicated for the long-term treatment of idiopathic pulmonary arterial hypertension (PAH), heritable PAH, PAH associated with connective tissue disorders, and PAH associated with congenital heart disease in adult patients with World Health Organization (WHO) functional class (FC) II or III to delay disease progression. Disease progression includes hospitalization for PAH, initiation of intravenous or subcutaneous prostanoids, or other disease progression events (decrease of six-minute walk distance [6MWD] associated with either worsened PAH symptoms or need for additional PAH-specific treatment). Selexipag has been approved by Health Canada for use as monotherapy, dual therapy (with an endothelin receptor antagonist [ERA] or a phosphodiesterase 5 [PDE5] inhibitor), and triple therapy (with an ERA and a PDE5 inhibitor). The manufacturer requested listing selexipag as per the Health Canada indication. Selexipag is a film-coated tablet to be administered twice daily, available in the following doses: 200 mcg, 400 mcg, 600 mcg, 800 mcg, 1,000 mcg, 1,200 mcg, 1,400 mcg, and 1,600 mcg. The manufacturer submitted selexipag at a marketed price of $64.1667 per tablet, for all tablet strengths. In 2015, CADTH published a Therapeutic Review to assess the comparative efficacy and safety and to determine the relative cost-effectiveness of pharmacologic treatments for adults with PAH. Based on the Therapeutic Review and patient group input, the CADTH Canadian Drug Expert Committee (CDEC) recommended that sildenafil or tadalafil (both PDE5 inhibitors) be the preferred initial treatments for adult patients with FC II and III PAH; and that add-on therapy should be used in adult PAH patients who are unable to achieve disease control with a single drug.

PMID: 30462450

Related Articles

Relationship between non-osmotic arginine vasopressin secretion and hemoglobin A1c levels in adult patients with congenital heart disease.

Heart Vessels. 2018 Nov 20;:

Authors: Murakami T, Horibata Y, Tateno S, Kawasoe Y, Niwa K

Arginine vasopressin (AVP), which induces vasoconstriction and conserves solute-free water when released during high plasma osmolality, is secreted through 2 mechanisms: osmoregulation and baroregulation. This study aims to clarify the mechanisms and influencing factors for non-osmotic AVP secretion in adult patients with congenital heart disease (CHD). AVP levels were measured in 74 adults with CHD. Non-osmotic AVP secretion was defined as excessive AVP secretion relative to the AVP level inferred from plasma osmolality. Accordingly, 10 patients (13.5%) demonstrated non-osmotic AVP secretion, with AVP levels higher than those in patients without non-osmotic AVP secretion (6.4 ± 3.1 vs. 1.6 ± 0.9 pg/ml; p < 0.0001). Non-osmotic AVP secretion was significantly correlated with diuretic use [odds ratio (OR) 7.227; confidence interval (CI) 1.743-29.962; p = 0.0006], HbA1c level (OR 11.812; CI 1.732-80.548; p = 0.012), and B-type natriuretic peptide (BNP) level (OR 1.007; CI 1.001-1.012; p = 0.022). Multiple logistic regression analysis revealed that there was a significant association between non-osmotic AVP secretion and HbA1c level (OR 9.958; 1.127-87.979; p = 0.0039), and a nearly significant relationship between non-osmotic AVP secretion and BNP (OR 1.006; CI 1.000-1.012; p = 0.056). In conclusion, this study showed that 13.5% of adult patients with CHD demonstrated non-osmotic AVP secretion, which could be correlated with heart failure and insulin resistance. The AVP system might be one of the mechanisms linking heart failure and the onset of type 2 diabetes mellitus in adults with CHD.

PMID: 30460574 [PubMed - as supplied by publisher]

First reported adult patient with TARP syndrome: A case report.

Am J Med Genet A. 2018 Nov 21;:

Authors: Højland AT, Lolas I, Okkels H, Lautrup CK, Diness BR, Petersen MB, Nielsen IK

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X-linked syndrome often resulting in pre- or post-natal lethality in affected males. In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA RBM10 mutation in exon 4, an exon skipped in three of five protein-coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.

PMID: 30462380 [PubMed - as supplied by publisher]

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The long-term functional outcome in Mustard patients study: Another decade of follow-up.

Congenit Heart Dis. 2018 Nov 23;:

Authors: Srivastava NT, Hurwitz R, Aaron Kay W, Eckert GJ, Kuhlenhoelter A, DeGrave N, Ebenroth ES

OBJECTIVE: For over 20 years, we have followed a cohort of patients who underwent the Mustard procedure for d-transposition of the great arteries. The current study follows the same cohort from our last study in 2007 to reassess their functional capacity and quality of life.
PARTICIPANTS: Of the original 45 patients, six patients have required cardiac transplant and 10 patients have died, including two of the transplanted patients. Twenty-five of the remaining patients agreed to participate in this current study.
DESIGN: Patients underwent comparable testing to the previous studies when possible including exercise stress testing, echocardiography, MRI or CT evaluation of cardiac anatomy and function, Holter monitor, and quality of life questionnaire.
RESULTS: Thirty-one percent of patients have experienced cardiac death either in the form of mortality or cardiac transplantation. The major cause of death was systemic right ventricular failure. Sixty-five percent have continuing abnormalities of rhythm. Exercise time and workload showed a statistically significant decrease from the original study (Time 1) to both 10-year (Time 2) and 20-year (Time 3) follow-up points. Right ventricular ejection fraction decreased significantly from the Time 1 to Time 2, and again to this current follow-up. Quality of life measures of energy level decreased significantly from the original study to both the Time 2 and Time 3.
CONCLUSION: Cardiac mortality for Mustard patients remains high, and over time, systemic right ventricular ejection fraction, rhythm, exercise tolerance, and quality of life assessments show deterioration. There does not appear to be a single clear predictor of poor outcome.

PMID: 30468301 [PubMed - as supplied by publisher]

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Surgical repair of partial anomalous pulmonary venous return with intact atrial septum in a 65-year-old woman: a case report.

J Med Case Rep. 2018 Nov 24;12(1):350

Authors: Ishida N, Shimabukuro K, Yamaguchi S, Umeda E, Ogura H, Mitta S, Kimata R, Takemura H, Doi K

BACKGROUND: Partial anomalous pulmonary venous return is a rare congenital cardiac anomaly that usually involves the right pulmonary vein and an atrial septal defect. Isolated partial anomalous pulmonary venous return with an intact atrial septum is even rarer, and this condition is usually treated surgically in younger patients. We describe isolated partial anomalous pulmonary venous return in a 65-year-old woman who was treated by caval division with pericardial patch baffling through a surgically created atrial septal defect and reconstruction of the superior vena cava using a prosthetic graft.
CASE PRESENTATION: A 65-year-old Asian woman who presented with exertional dyspnea was diagnosed with isolated partial anomalous pulmonary venous return. The surgical indications and strategy were controversial because of the rarity of this pathology. She had an indication for surgery because she was symptomatic and had a high ratio of pulmonary to systemic blood flow. We considered that surgical procedures should avoid postoperative stenosis of a reconstructed flow tract, sinus node dysfunction, and thrombogenesis. We created a caval division with pericardial patch baffling through a surgically created atrial septal defect and reconstructed the superior vena cava using a prosthetic graft for the isolated partial anomalous pulmonary venous return. She has since remained free of exertional dyspnea, arrhythmia, and thrombotic complications. This surgical strategy is safe and effective for treating isolated partial anomalous pulmonary venous return in older symptomatic adults.
CONCLUSIONS: The long-term outcome of surgical repair of partial anomalous pulmonary venous return with an intact atrial septum in our patient, a symptomatic 65-year-old woman, was excellent.

PMID: 30470244 [PubMed - in process]

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Interruption of the Aortic Arch.

Am J Med. 2017 Jun;130(6):e251-e252

Authors: Combes N, Waldmann V, Heitz F, Bruguiere E, Quedreux JF, Vahdat O, Chambran P, Narayanan K, Marijon E

PMID: 28161345 [PubMed - indexed for MEDLINE]

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Transvenous biventricular pacing in double-inlet left ventricle following ventricular septation and atrioventricular valve replacement.

Europace. 2017 12 01;19(12):1987

Authors: Takeuchi D, Yagishita D, Toyohara K, Nishimura T, Park IS, Shoda M

PMID: 28398485 [PubMed - indexed for MEDLINE]

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Percutaneous Ventricular Assist Device for Circulatory Support During Ablation of Atrial Tachycardias in Patients With Fontan Circulation.

Rev Esp Cardiol (Engl Ed). 2018 Jun;71(6):493-495

Authors: Hendriks A, De Vries L, Witsenburg M, Yap SC, Van Mieghem N, Szili-Torok T

PMID: 28431884 [PubMed - indexed for MEDLINE]