Articles

Down syndrome and congenital heart disease: perioperative planning and management

Approximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management f...

Authors: Dennis R. Delany, Stephanie S. Gaydos, Deborah A. Romeo, Heather T. Henderson, Kristi L. Fogg, Angela S. McKeta, Minoo N. Kavarana and John M. Costello

Reversible acute Fontan circulation failure secondary to retrogradely conducted junctional rhythm: clinical echocardiographic correlation

Sequential atrioventricular activation plays a critical role in the physiology of Fontan circulation. Although bradycardia is usually well tolerated, retrogradely conducted junctional rhythm may acutely increa...

Authors: Paolo Ferrero, Isabelle Piazza, Youcef Sadou and Matteo Ciuffreda

The microbiome’s relationship with congenital heart disease: more than a gut feeling

Patients with congenital heart disease (CHD) are at risk for developing intestinal dysbiosis and intestinal epithelial barrier dysfunction due to abnormal gut perfusion or hypoxemia in the context of low cardi...

Authors: Dan Feng, Jason T. Christensen, Anji T. Yetman, Merry L. Lindsey, Amar B. Singh and Jeffrey D. Salomon

Update on fetal cardiovascular magnetic resonance and utility in congenital heart disease

Congenital heart disease (CHD) is the most common birth defect, affecting approximately eight per thousand newborns. Between one and two neonates per thousand have congenital cardiac lesions that require immed...

Authors: Liqun Sun, Fu-Tsuen Lee, Joshua F. P. van Amerom, Lindsay Freud, Edgar Jaeggi, Christopher K. Macgowan and Mike Seed

Routine surveillance of patients post Fontan palliation: lessons learnt from cardiac catheterisation

There is no consensus on the clinical utility of ‘routine’ diagnostic cardiac catheterisation in patients with Fontan palliation in the absence of symptoms or haemodynamic lesions.

Authors: Maria Victoria Ordonez, Giovanni Biglino and Radwa Bedair

Cardiac disease in Down Syndrome: literature review and international expert consensus in collaboration with Down Syndrome International (DSi)

Congenital heart disease is common in patients with Down syndrome, yet clinical recommendations relating to its diagnosis and management in this patient group are lacking.

Authors: Andrew Constantine, Robin Condliffe, Paul Clift, Robert Tulloh, Katrijn Jansen and Konstantinos Dimopoulos

Congenital heart disease in Down syndrome – A review of temporal changes

Congenital heart disease (CHD) is a well-known co-occurring condition in Down syndrome (DS). We aimed to review the literature to evaluate the current evidence to address key questions.

Authors: Stephanie L. Santoro and Ellen Hollands Steffensen

Fontan failure and the role of pulmonary vasodilator therapy

The Fontan circulation is a palliative procedure for patients born with a single ventricle physiology. The Fontan circulation is associated with significant late morbidity commonly including atrial arrhythmias.

Authors: Paul Clift

The investigation and diagnosis of pulmonary hypertension in adults with congenital heart disease

Pulmonary hypertension is not uncommon in adult patients with congenital heart disease and can significantly affect their exercise capacity, quality of life and prognosis. Timely identification and management ...

Authors: Heba Nashat, Carla Favoccia, Andrew Constantine and Konstantinos Dimopoulos

Strategies for the management of pulmonary arterial hypertension in patients with congenital heart disease

Pulmonary hypertension (PH) is commonly seen in adults who have congenital heart disease (CHD). Therapy is available for pulmonary arterial hypertension (PAH) and has greatly benefitted many patients with PAH ...

Authors: Nathalie Liew, Zoya Rashid and Robert Tulloh

Pulmonary arterial hypertension (PAH) related to congenital heart disease (CHD): introducing the CHAMPION supplement

Early management decisions in complex congenital heart disease include assessing and maintaining adequate pulmonary blood flow whilst preventing increased pulmonary blood flow that may lead to pulmonary vascul...

Authors: Paul Clift

Advanced therapies in pulmonary arterial hypertension and congenital heart disease in people with Down syndrome

Management of patients with pulmonary arterial hypertension associated with congenital heart disease and trisomy 21 is complex due to uncertainty over the best first-line agent to use for treatment, and the ou...

Authors: Zoya Rashid and Robert Tulloh

Advanced therapies in complex congenital heart disease

Although there are some data on how to manage and treat patients with Eisenmenger syndrome due to simple cardiac defects, little evidence exists to guide best management of pulmonary vascular disease in cases ...

Authors: Zoya Rashid and Robert Tulloh

General management of pulmonary arterial hypertension associated with adult congenital heart disease

Over the past 15 years there have been significant improvements in the treatment of pulmonary arterial hypertension due to congenital heart disease. Patients now live for several decades, but morbidity and mor...

Authors: Wendy Gin-Sing

Pulmonary arterial hypertension associated with congenital heart disease: classification and pathophysiology

While the development of pulmonary arterial hypertension is not uncommon in adult congenital heart disease patients, other forms of pulmonary hypertension (PH) may also be present. A good understanding of PH c...

Authors: Robin Condliffe

Non-cardiac surgery in congenital heart disease-associated pulmonary arterial hypertension: risk recognition and management

Current guidelines for the peri-operative assessment and management are not sufficient to allow effective risk assessment and management of the patient with pulmonary arterial hypertension associated with cong...

Authors: Andrew Constantine and Paul Clift

Advanced therapies in Eisenmenger syndrome

This is a case report of a patient diagnosed with Eisenmenger syndrome in adult life.

Authors: Heba Nashat, Andrew Constantine and Konstantinos Dimopoulos

Heart and lung transplantation in pulmonary arterial hypertension related to congenital heart disease: an unusual indication

Eisenmenger syndrome is a multisystem disorder, characterised by a significant cardiac defect, severe pulmonary hypertension and long-standing cyanosis. Despite the availability of pulmonary hypertension thera...

Authors: Rosaria Barracano, Heba Nashat, Andrew Constantine and Konstantinos Dimopoulos

Pulmonary arterial hypertension associated with congenital heart disease after defect repair: the effect of pregnancy

An increasing number of patients with previously repaired congenital heart disease (CHD) present with pulmonary arterial hypertension (PAH). This can occur immediately after repair (residual PAH) or years later.

Authors: Margarita Brida, Carla Favoccia, Andrew Constantine and Konstantinos Dimopoulos

Erythrocytosis and iron status in Eisenmenger syndrome: an illustrative case study

Patients with Eisenmenger syndrome are chronically hypoxaemic and should therefore mount a secondary erythrocytosis. This response can be attenuated by iron deficiency. Historically, patients with Eisenmenger-...

Authors: Robin Condliffe

Pregnancy in pulmonary arterial hypertension associated with congenital heart disease: an illustrative case study

Pregnancy in patients with pulmonary arterial hypertension associated with congenital heart disease is associated with a high risk of maternal mortality.

Authors: Robin Condliffe

PAH-CHD: transition to adulthood

A structured transition provides a framework of care that bridges the gap between paediatric and adult medicine. It is essential for achieving continuity of care and providing support and education around the ...

Authors: Andrew Constantine, Robert M. R. Tulloh, Rebecca Turquet, Konstantinos Dimopoulos and Shahin Moledina

Congenitally corrected transposition of great arteries: a case series of five unoperated African children

Congenitally corrected transposition of great arteries (ccTGA) is rare. It is commonly associated with ventricular septal defect (VSD), pulmonary stenosis and heart block. Early anatomic repair is recommended ...

Authors: Bernard Obongonyinge, Judith Namuyonga, Hilda Tumwebaze, Twalib Aliku, Peter Lwabi and Sulaiman Lubega

Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

Genetic screening is now commonplace for patients suspected of having inherited cardiac conditions. Variants of uncertain significance (VUS) in disease-associated genes pose problems for the diagnostician and ...

Authors: Jules C. Hancox, Alan G. Stuart and Stephen C. Harmer

Commissural Malalignment as a predictor of coronary artery abnormalities in patients with transposition of great arteries

In patients with transposition of the great arteries (TGA), commissural malalignment (CM) between semilunar valves may be associated with abnormal coronary (CA) pattern. We intend to assess the degree of CM wi...

Authors: Mohamed Al Nasef, Mohammed H. Alghamdi, Maria L. Bello Valls, Ahmed M. Zahrani, Ali AlAkfash, Husam I. Ardah, Obayda M. Diranneya and Fahad Alhabshan

Cost-effectiveness of palivizumab in infants with congenital heart disease: a Swedish perspective

Infants with congenital heart disease (CHD) have an increased risk of morbidity and mortality during a respiratory syncytial virus (RSV) infection. The aim of this study was to estimate the cost-effectiveness ...

Authors: Eva Fernlund, Martin Eriksson, Jonas Söderholm, Jan Sunnegårdh and Estelle Naumburg

The role of cardiopulmonary exercise testing (CPET) in predicting mortality and morbidity in people with congenital heart disease: a systematic review and meta-analysis (Protocol)

Numerous studies have measured the prognostic associations between cardiorespiratory fitness and patient outcomes in congenital heart disease, but no systematic review has assessed these associations for all t...

Authors: Curtis A. Wadey, Max E. Weston, Dan Mihai Dorobantu, Rod S. Taylor, Guido E. Pieles, Alan R. Barker and Craig A. Williams

Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis

Congenital heart defects (CHD) are the singular most common congenital anomalies and account for a significant fraction of childhood mortality and morbidity. CHD occurs in ~ 1% of livebirths globally and often...

Authors: Nicholas Ekow Thomford, Robert Peter Biney, Emmanuel Okai, Akwasi Anyanful, Paul Nsiah, Prosperity G. Frimpong, Dominic O. Boakye, Charles A. Adongo, Paul Kruszka and Ambroise Wonkam

Medical and surgical management of a pulmonary hypertensive adult patient with unrepaired complex congenital heart disease: a case report

Some patients with congenital heart defects are considered inoperable because of severe pulmonary arterial hypertension (PAH) at birth, and some of these patients are followed for a long period. Recently, PAH-...

Authors: Satoshi Akagi, Shingo Kasahara, Teiji Akagi, Kazufumi Nakamura and Hiroshi Ito

Patent ductus venosus and exercise related pulmonary hypertension: a case of a young adult with successful surgery closure

The patent ductus venosus is an embryological portosystemic shunt that connects the umbilical vein to the inferior vena cava and it can be diagnosed incidentally or in subjects suffering from hepatic encephalo...

Authors: Walter Serra, Angelo Placci, Cristina Rossi and Stefano Cecchini

Post mortem coronary angiography in a preemie heart – a case report

Postmortem coronary angiography has been used in forensic medicine for several decades but its use has never been documented in neonatal hearts. The objective of this case is to report the use of postmortem co...

Authors: Amna Qasim, Duraisamy Balaguru and Ashraf M. Aly

Left ventricular outflow tract obstruction secondary to right atrial dilatation and accessory mitral valve tissue in a patient with Ebstein’s anomaly- Case report

Ebsteins anomaly accounts for less than 1% of all congenital cardiac defects. Whilst typically characterised by dysfunction and anatomical defects of the right ventricle and tricuspid valve, it often co-exists...

Authors: Alastair P. Gray and Niall G. Mahon

Correction to: Pregnancy outcomes in patients with a fontan circulation and proposal for a risk-scoring system: single Centre experience

The original version of this article [1] unfortunately included an error to an author’s name. Author Aliyah Choudhary was erroneously presented as Aliyah Chaudhary.

Authors: Sayqa Arif, Aliyah Choudhary, Paul F. Clift, R. Katie Morris, Tara J. Selman, Sarah E. Bowater, Lucy E. Hudsmith, Peter J. Thompson and Sara A. Thorne

Aggressive Aortopathy in neonatal Marfan syndrome

Neonatal Marfan syndrome is a rare, severe form of Marfan syndrome with a poor prognosis. Surgical intervention to address massive aortic root dilatation is uncommon as dissection rarely occurs, and death inva...

Authors: Laura D’Addese, Rukmini Komarlu and Kenneth Zahka

Delivery outcomes in women with congenital heart disease: results from the Cuban National Programme for pregnancy and heart disease

To inform on delivery outcomes achieved in congenital heart disease (CHD) patients by the Cuban National Programme for pregnancy and heart disease.

Authors: Cristina Munte Kinsella, Sara A. Thorne, Hsu Chong, Paul F. Clift, Roman Vasallo Peraza, Jesus E. Perez Torga and Pedro A. Roman Rubio

Learning from studying very rare cardiac conditions: the example of short QT syndrome

Some congenital heart conditions are very rare. In a climate of limited resources, a viewpoint could be advanced that identifying diagnostic criteria for such conditions and, through empiricism, effective trea...

Authors: Jules C. Hancox, Dominic G. Whittaker, Henggui Zhang and Alan G. Stuart

Patterns, prevalence, risk factors, and survival of newborns with congenital heart defects in a Saudi population: a three-year, cohort case-control study

Congenital heart defects (CHD) are the most common types of birth defects. The prevalence of CHD, mostly from retrospective studies, ranges between 2.1 and 10.7/1000 live births. For physicians to provide appr...

Authors: Muhammad Ali Majeed-Saidan, Merna Atiyah, Amer N. Ammari, Amal M. AlHashem, Maha S. Rakaf, Mohamed M. Shoukri, Ester Garne and Ahmed M. Kurdi

Antenatal diagnosis of idiopathic infantile arterial calcification (IIAC): a single centre experience and review of the literature

Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder characterised by extensive calcification and proliferation of the intimal layer of the large and medium size arteries.

Authors: C. H. Mulcahy, F. Mone, F. M. McAuliffe, E. Mooney, P. McParland and C. J. Mc Mahon

Adult congenital heart disease physical activity recommendation form: a feasibility study

Adults with Congenital Heart Disease (ACHD) follow the same physical inactivity patterns as the general population. It is well known that physical inactivity is a risk factor for cardiovascular disease, and ev...

Authors: Teresa Lyle and Melissa Hartman

Patient experience within the adult congenital heart disease outreach network: a questionnaire-based study

Specialist multi-disciplinary care improves outcomes of Adult Congenital Heart Disease (ACHD) patients. Following the NHS England Congenital Heart Disease standards review, the aim is to deliver high quality, ...

Authors: Georgina Ooues, Paul Clift, Sarah Bowater, Sayqa Arif, Andrew Epstein, Neeraj Prasad, Dawn Adamson, Mandy Cummings, Charles Spencer, Paul Woodmansey, Jenny Borley, Thomas Ingram, Adrian Morley-Davies, William Roberts, Najmi Qureshi, Susan Hawkesford…

Case report: new onset heart failure in congenitally corrected transposition of the great arteries, dextrocardia, and situs inversus in an octogenarian

Congenitally corrected transposition of the great arteries (ccTGA) is a rare anomaly comprising a minimal portion of congenital heart disease cases. Some patients are not identified until adulthood. A minority...

Authors: Casondra Moore and Abdulfatah Osman

Opinion piece: What the doctor didn’t order

Authors: Kate Bull and Stuart Watson

A retrospective study: elevation of cardiac troponin T after transcatheter closure of the interatrial septum is related to device size and procedural duration

Limited data are available on the increase in cardiac troponin after transcatheter closure of interatrial septal defects, and the mechanism is not fully understood. The aim with the study was to examine retros...

Authors: Joanna Hlebowicz, Johan Holm, Nazim Isma and Ulf Thilén

The potential role of feature tracking in adult congenital heart disease: advantages and disadvantages in measuring myocardial deformation by cardiovascular magnetic resonance

Cardiac magnetic resonance (CMR) imaging has several advantages over other imaging modalities in adult patients with congenital heart disease. Limitations remain however, in the assessment of myocardial functi...

Authors: Ahmed M. Dardeer, Lucy Hudsmith, Roman Wesolowski, Paul Clift and Richard P. Steeds

Case report description of a collaborative approach to thoracic duct embolization in patients with congenital heart disease

Medical management and surgical interventions for the lymphatic disorders chylothorax and plastic bronchitis are often unsuccessful. Single center data suggest that thoracic duct embolization is a more efficac...

Authors: Mitchell A Luangrath, Jason Pinchot and Luke J. Lamers

A case report on stent placement in a fetus with hypoplastic left heart syndrome and intact interatrial setptum: first choice alternative standardized approach from left pulmonary vein

Fetuses with hypoplastic left heart syndrome (HLHS) and intact interatral septum (IS) have a high perinatal mortality due to the impossibility to guarantee oxygenation at birth. The most effective way to manag...

Authors: Matteo Ciuffreda, Paolo Ferrero, Elena Ciriello, Simona Marcora, Luisa Patanè and Nicola Strobelt

National quality register of congenital heart diseases – Can we trust the data?

The SWEDish registry of CONgenital heart disease is a Swedish national quality register for collecting data on pediatric and adult (GUCH) patients with congenital heart diseases that aims to improve medical pr...

Authors: Amanda Bodell, Gudrun Björkhem, Ulf Thilén and Estelle Naumburg

Pregnancy outcomes in patients with a fontan circulation and proposal for a risk-scoring system: single centre experience

Pregnancy in women with Fontan physiology poses a significant management challenge and is deemed high risk. The aim of this study is to describe short and long-term pregnancy outcomes in women who have undergo...

Authors: Sayqa Arif, Aliyah Chaudhary, Paul F. Clift, R. Katie Morris, Tara J. Selman, Sarah E. Bowater, Lucy E. Hudsmith, Peter J. Thompson and Sara A. Thorne

Triadin mutations - a cause of ventricular arrhythmias in children and young adults

Triadin-1, encoded by TRDN, is an important component of the calcium release unit (CRU) in the sarcoplasmic reticulum of cardiac myocytes, interacting both with ryanodine receptors and calsequestrin. This article...

Authors: Jules C. Hancox, Andrew F. James, Mark A. Walsh and Alan G. Stuart

Role of cardiac MRI and CT in Fontan circulation

A Fontan circulation is a series of palliative surgical procedures, which result in the diversion of the systemic venous return into pulmonary arterial circulation without passing through a ventricle. It is on...

Authors: Michael Yeong, Will Loughborough, Mark Hamilton and Nathan Manghat