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Homoarginine-A prognostic indicator in adolescents and adults with complex congenital heart disease?

PLoS One. 2017;12(9):e0184333

Authors: Raedle-Hurst T, Mueller M, Meinitzer A, Maerz W, Dschietzig T

BACKGROUND: Homoarginine (hArg) has been shown to be of prognostic value in patients with chronic left heart failure. The present study aims to assess the clinical utility and prognostic value of hArg levels in patients with complex congenital heart disease (CHD).
METHODS: Plasma hArg levels were measured in 143 patients with complex CHD and compared to clinical status, echocardiographic and laboratory parameters as well as the occurrence of adverse cardiac events.
RESULTS: Median hArg levels were 1.5 μmol/l in CHD patients as compared to 1.70 μmol/l in healthy controls (p = 0.051). Median hArg levels were lowest in patients with Fontan palliation (1.27 μmol/l) and Eisenmenger physiology (0.99 μmol/l) and decreased with the severity of adverse cardiac events with lowest values found in patients prior to death or overt heart failure (0.89 μmol/l). According to ROC analysis, the most important predictors of adverse cardiac events were hArg levels (AUC 0.837, p<0.001, CI 0.726-0.947), NYHA class (AUC 0.800, p<0.001, CI 0.672-0.928) and NT-proBNP levels (AUC 0.780, p<0.001, CI 0.669-0.891). The occurrence of overt heart failure or death due to progressive heart failure were best predicted by NYHA class (AUC 0.945, p<0.001, CI 0.898-0.992), hArg levels (AUC 0.911, p<0.001, CI 0.850-0.971) and NT-proBNP levels (AUC 0.877, p<0.001, CI 0.791-0.962), respectively.
CONCLUSION: In patients with complex CHD, hArg levels can predict adverse cardiac events as reliably as or even better than NT-proBNP levels and thus might be of prognostic value in this subset of patients.

PMID: 28886170 [PubMed - indexed for MEDLINE]

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Time course and interrelationship of dysrhythmias in patients with a surgically repaired atrial septal defect.

Heart Rhythm. 2017 Oct 13;:

Authors: Houck CA, Evertz R, Teuwen CP, Roos-Hesselink JW, Duijnhouwer T, Bogers AJJC, de Groot NMS

BACKGROUND: Atrial fibrillation (AF) and other supraventricular tachycardias (SVT) are known complications after surgical repair of an atrial septal defect (ASD), but sinus node dysfunction (SND) and complete atrioventricular conduction block (cAVB) may also occur.
OBJECTIVE: The aims of this study were to examine time course and interrelationship of various dysrhythmias in patients with an ASD.
METHODS: Adult patients (N=95) with a surgically repaired secundum ASD (N=40), partial atrioventricular septal defect (N=37) or sinus venosus defect (N=18) and documented SND, cAVB, AF and/or other SVT were included. Median age at repair was 13 years (interquartile range 6-45) and patients were followed for 26 years (interquartile range 15-37) after ASD repair.
RESULTS: SND was observed in 34 patients (36%), cAVB in 14 (14%), AF in 48 (49%) and SVT in 44 (45%); 37 (39%) patients had ≥2 dysrhythmias. All dysrhythmias presented most often after ASD repair (p<0.01) with a median duration of 12 to 16 years between repair and onset. Development of SND and cAVB late after ASD repair was not related to a redo procedure in respectively 100% and 60% of patients. SND preceded atrial tachyarrhythmias in 50% (p=0.31) and SVT preceded AF in 68% (p=0.09) of patients with both dysrhythmias.
CONCLUSIONS: A substantial number of dysrhythmias presented (very) late after ASD repair. In most patients, development of late SND and cAVB was not related to redo procedures. In patients with multiple dysrhythmias, a specific order of appearance was not observed.

PMID: 29038089 [PubMed - as supplied by publisher]

Genetic Origins of Tetralogy of Fallot.

Cardiol Rev. 2017 Oct 17;:

Authors: Morgenthau A, Frishman WH

Due to improved survival and clinical outcomes, congenital heart disease is an area of growing importance within the medical community. As these patients reach adulthood and have children, there has been a growing appreciation for the increased risk of CHD among their offspring, strongly implying a genetic element. Given the growing wealth of genetic data available and these clinical implications, this review serves to re-examine the role of genetics within CHD, using Tetralogy of Fallot as a model pathology. TOF is one of the oldest documented CHDs, with a growing prevalence of adult patients, and thus serves as an excellent model for this review. Given the complex nature of cardiac development, it is not surprising that multiple transcription factors and signaling molecules responsible for cardiogenesis have been implicated in TOF, with additional, previously non-implicated genes being routinely reported within the literature. This review focuses on the well characterized genes gata4, nkx2.5, jag1, foxc2, tbx5 and tbx1, which have been previously implicated in TOF. Furthermore, this paper will attempt to summarize the specific clinical implications associated with the affected genes, such as right- sided aortic arches, associated syndromic presentations, and parental carrier states.

PMID: 29045289 [PubMed - as supplied by publisher]

A crown of thorns-right ventricular outflow tract obstruction caused by calcific pericardial ring.

Eur Heart J Cardiovasc Imaging. 2017 Oct 16;:

Authors: Heng EL, Semple T, Dimopoulos K, Nicol ED, Mohiaddin RH

PMID: 29045583 [PubMed - as supplied by publisher]

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CT and MR imaging in congenital cardiac malformations: Where do we come from and where are we going?

Diagn Interv Imaging. 2016 May;97(5):505-12

Authors: Dacher JN, Barre E, Durand I, Hazelzet T, Brasseur-Daudruy M, Blondiaux É, Bauer F, Dubourg B

The management of patients with congenital heart disease was profoundly changed firstly by the advent of pediatric and prenatal ultrasound and then more recently by cardiac magnetic resonance imaging (MRI) and computed tomography (CT) of the heart and great vessels. The improved life expectancy of these patients has brought about new medical and imaging requirements. MRI and CT are increasing second line techniques in this group of patients. This article summarizes the advantages and limitations of CT and MRI in some frequently encountered situations in children and adults followed up for congenital heart disease.

PMID: 27012158 [PubMed - indexed for MEDLINE]

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Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Am J Med Genet A. 2016 Oct;170(10):2617-31

Authors: Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME

Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features, hearing loss, laryngotracheal anomalies, arthropathy, radiographic defects, intellectual disability, and a more recently appreciated spectrum of cardiovascular defects with a striking fibroproliferative response to surgical intervention. We report four newly described patients with typical features of Myhre syndrome who had (i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial and pleural effusions; (iii) a large persistent ductus arteriosus with juxtaductal aortic coarctation; and (iv) restrictive pericardial disease requiring pericardiectomy. Additional information is provided about a fifth previously reported patient with fatal pericardial disease. A literature review of the cardiovascular features of Myhre syndrome was performed on 54 total patients, all with a SMAD4 mutation. Seventy percent had a cardiovascular abnormality including congenital heart defects (63%), pericardial disease (17%), restrictive cardiomyopathy (9%), and systemic hypertension (15%). Pericarditis and restrictive cardiomyopathy are associated with high mortality (three patients each among 10 deaths); one patient with restrictive cardiomyopathy also had epicarditis. Cardiomyopathy and pericardial abnormalities distinguish Myhre syndrome from other disorders caused by mutations in the TGF-β signaling cascade (Marfan, Loeys-Dietz, or Shprintzen-Goldberg syndromes). We hypothesize that the expanded spectrum of cardiovascular abnormalities relates to the ability of the SMAD4 protein to integrate diverse signaling pathways, including canonical TGF-β, BMP, and Activin signaling. The co-occurrence of congenital and acquired phenotypes demonstrates that the gene product of SMAD4 is required for both developmental and postnatal cardiovascular homeostasis. © 2016 Wiley Periodicals, Inc.

PMID: 27302097 [PubMed - indexed for MEDLINE]

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Hereditary myopathies with early respiratory insufficiency in adults.

Muscle Nerve. 2017 Nov;56(5):881-886

Authors: Naddaf E, Milone M

INTRODUCTION: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults.
METHODS: We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded.
RESULTS: We identified 22 patients; half had isolated respiratory symptoms at onset. The diagnosis of the myopathy was often delayed, resulting in delayed ventilatory support. The most common myopathies were adult-onset Pompe disease, myofibrillar myopathy, multi-minicore disease, and myotonic dystrophy type 1. Single cases of laminopathy, MELAS (mitochondrial encephalomyopathy with lactic acidosis and strokelike events), centronuclear myopathy, and cytoplasmic body myopathy were identified.
CONCLUSION: We highlighted the most common hereditary myopathies associated with early respiratory insufficiency as the predominant clinical feature, and underscored the importance of a timely diagnosis for patient care. Muscle Nerve 56: 881-886, 2017.

PMID: 28181274 [PubMed - indexed for MEDLINE]

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Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery Presenting in Adulthood: a French Nationwide Retrospective Study.

Semin Thorac Cardiovasc Surg. 2017 Aug 25;:

Authors: Berre LL, Baruteau AE, Fraisse A, Boulmier D, Jimenez M, Gallet B, Fresse KW, Mansourati J, Guerin P

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease usually diagnosed during the first months of life. Without surgical treatment, ALCAPA carries a high mortality risk, and disease presentation in adulthood is rare. We describe the diagnosis and management of patients presenting with ALCAPA in adulthood. This multicenter French nationwide retrospective study included adult patients diagnosed from 1980 to 2014. Eleven adult patients (mean age: 38 ± 17 years) were analyzed. All patients were symptomatic, presenting with chest pain, palpitations, heart failure, or syncope. Electrocardiogram was abnormal in 8 (73%) patients. Echocardiogram showed a mildly depressed left ventricular ejection fraction of 50 ± 13%, kinetic abnormalities in 5 (45%) patients, and significant mitral regurgitation in 8 (73%) patients. Coronary angiography was performed in 10 (91%) patients and confirmed the diagnosis. Computerized tomography scan, magnetic resonance imaging, and myocardial scintigraphy were performed when deemed necessary. Ten patients underwent reconstructive surgery, but 1 patient was not operated because of age. Four patients experienced postoperative complications including cardiogenic shock, heart failure, renal failure, or additional surgery. After a median follow-up of 2.5 years, all 10 operated patients were alive and asymptomatic, and the nonoperated patient had died at the age of 70 from syncope related to ventricular tachycardia. ALCAPA may be diagnosed in adults. Although complications may occur postoperatively, long-term outcome is favorable in adult patients undergoing surgical correction. Surgery should be discussed as first-line therapy in adults with ALCAPA.

PMID: 29050847 [PubMed - as supplied by publisher]

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Lead extraction outcomes in patients with congenital heart disease.

Europace. 2017 Mar 01;19(3):441-446

Authors: Fender EA, Killu AM, Cannon BC, Friedman PA, Mcleod CJ, Hodge DO, Broberg CS, Henrikson CA, Cha YM

Aims: Patients with congenital heart disease (CHD) are at increased risk for intracardiac device malfunction and infection that may necessitate extraction; however, the risk of extraction is poorly understood. This study addresses the safety of extraction in patients with structural heart disease and previous cardiac surgery.
Methods and results: This retrospective study included 40 CHD and 80 matched control patients, who underwent transvenous lead extractions between 2001 and 2014. Only leads >12 months were included. There were 77 leads in CHD patients and 146 in controls. The mean age was 38 ± 16 years in CHD patients. Ninety per cent of CHD patients had ≥1 cardiac surgeries when compared with 21% of controls (P < 0.001). The number of abandoned leads was significantly different (17 vs. 3, P < 0.001). Lead age was similar with an average duration of 83 ± 87 months in CHD patients and 62 ± 65 months in controls (P = 0.24). There was no significant difference in extraction techniques. Manual traction was successful in 40% of CHD patients and 47% of controls, and advanced techniques were used in 60 and 53% of CHD patients and controls, respectively. Complete extraction was achieved in 94% of the patients in both groups. There was no significant difference in complications.
Conclusion: Lead extraction can be safely performed in patients with CHD. Despite anatomic abnormalities and longer implantation times, the difficulty of lead extraction in patients with CHD is comparable with controls.

PMID: 27738059 [PubMed - indexed for MEDLINE]

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In-hospital cost comparison between percutaneous pulmonary valve implantation and surgery.

Eur J Cardiothorac Surg. 2017 04 01;51(4):747-753

Authors: Andresen B, Mishra V, Lewandowska M, Andersen JG, Andersen MH, Lindberg H, Døhlen G, Fosse E

Objectives: Today, both surgical and percutaneous techniques are available for pulmonary valve implantation in patients with right ventricle outflow tract obstruction or insufficiency. In this controlled, non-randomized study the hospital costs per patient of the two treatment options were identified and compared.
Methods: During the period of June 2011 until October 2014 cost data in 20 patients treated with the percutaneous technique and 14 patients treated with open surgery were consecutively included. Two methods for cost analysis were used, a retrospective average cost estimate (overhead costs) and a direct prospective detailed cost acquisition related to each individual patient (patient-specific costs).
Results: The equipment cost, particularly the stents and valve itself was by far the main cost-driving factor in the percutaneous pulmonary valve group, representing 96% of the direct costs, whereas in the open surgery group the main costs derived from the postoperative care and particularly the stay in the intensive care department. The device-related cost in this group represented 13.5% of the direct costs. Length-of-stay-related costs in the percutaneous group were mean $3885 (1618) and mean $17 848 (5060) in the open surgery group. The difference in postoperative stay between the groups was statistically significant ( P ≤ 0.001).
Conclusions: Given the high postoperative cost in open surgery, the percutaneous procedure could be cost saving even with a device cost of more than five times the cost of the surgical device.

PMID: 28007875 [PubMed - indexed for MEDLINE]