Werner Budts

What do adult patients with congenital heart disease know about their disease, treatment, and prevention of complications? A call for structured patient education

OBJECTIVE To assess how much adults with congenital heart disease understand about their heart defect, its treatment, and the preventive measures necessary to avoid complications. DESIGN Descriptive, cross sectional study. SETTING Adult congenital heart disease programme in one tertiary care centre in Belgium. PATIENTS 62 adults with congenital heart disease (47 men; 15 women), median age 23 years. MAIN OUTCOME MEASURES Patients knowledge was assessed during an outpatient visit using the Leuven knowledge questionnaire for congenital heart diseases, a 33 item instrument developed for this study. RESULTS Patients had adequate knowledge (>u200980% correct answers) about their treatment, frequency of follow up, dental practices, occupational choices, appropriateness of oral contraceptives, and the risks of pregnancy. Knowledge about the name and anatomy of the heart defect, the possibility of recurrent episodes of endocarditis during their lifetime, and the appropriateness of different physical activities was moderate (50–80% correct answers). There was poor understanding (<u200950% correct answers) about the reasons for follow up, the symptoms of deterioration of the heart disease, the definition, characteristics, and risk factors of endocarditis, the impact of smoking and alcohol on the heart disease, the hereditary nature of the condition, and the suitability of intrauterine devices as contraceptives. CONCLUSIONS Adults with congenital heart disease have important gaps in their knowledge about their condition. The results of this study can be used as a basis for developing or optimising structured educational interventions to enhance patients health behaviour.

Is the severity of congenital heart disease associated with the quality of life and perceived health of adult patients

Objective: To explore whether the severity of congenital heart disease is associated with the quality of life and perceived health status of adult patients. Design: Descriptive, cross sectional study. Setting: Adult congenital heart disease programme in one tertiary care centre in Belgium. Patients: 629 patients (378 men, 251 women) with a median age of 24 years. Main outcome measures: Disease severity was operationalised in terms of initial diagnosis (classification of Task Force 1 of the 32nd Bethesda Conference), illness course (disease severity index), and current functional status (New York Heart Association (NYHA) class, ability index, congenital heart disease functional index, and left ventricular ejection fraction). Quality of life was measured by a linear analogue scale, the satisfaction with life scale, and the schedule for evaluation of individual quality of life. Perceived health status was also assessed with a linear analogue scale. Results: Scores derived from the disease severity classification systems were weakly negatively associated with quality of life and health status, ranging from −0.05 to −0.27. The NYHA functional class and ability index were consistently associated with quality of life and perceived health. Conclusions: This study showed that the severity of congenital heart disease is marginally associated with patients’ quality of life and perceived health. Functional status was more related to patients’ assessment of their quality of life than was the initial diagnosis or illness course.

Residual pulmonary vasoreactivity to inhaled nitric oxide in patients with severe obstructive pulmonary hypertension and Eisenmenger syndrome

OBJECTIVE To determine whether inhaled NO (iNO) can reduce pulmonary vascular resistance in adults with congenital heart disease and obstructive pulmonary hypertension or Eisenmenger syndrome. DESIGN 23 patients received graded doses of iNO. Pulmonary and systemic haemodynamic variables and circulating cyclic guanosine monophosphate (cGMP) concentrations were measured at baseline and after 20 and 80 ppm iNO. Patients were considered responders when total pulmonary resistance was reduced by at least 20%, and rebound was defined as a greater than 10% increase in total pulmonary resistance upon withdrawal from iNO. RESULTS In response to 20 ppm iNO, total pulmonary resistance decreased in four patients (18%, 95% confidence interval (CI), 2% to 34%), while in response to 80 ppm iNO it decreased in six patients (29%, 95% CI 10% to 38%). Systemic blood pressure did not change. Withdrawal resulted in rebound in three patients (16%, 95% CI 0% to 32%) after cessation of 20 ppm iNO, and in six patients (35%, 95% CI 12% to 58%) after cessation of 80 ppm iNO. Patients with predominant right to left shunting did not respond. In all patients cGMP increased from (mean (SD)) 28 (13)u2009μmol/l at baseline to 55 (30) and 78 (44)u2009μmol/l after 20 and 80 ppm iNO (pu2009<u20090.05 v baseline). CONCLUSIONS NO inhalation is safe and is associated with a dose dependent increase in circulating cGMP concentrations. Pulmonary vasodilatation in response to iNO was observed in 29% of patients and was influenced by baseline pulmonary haemodynamics. Responsiveness to acute iNO may identify patients with advanced obstructive pulmonary hypertension and Eisenmenger syndrome who could benefit from sustained vasodilator treatment.

A 72 year old woman with ALCAPA

ALCAPA syndrome (anomalous origin of the left coronary artery from the pulmonary artery), which causes the left coronary artery to grow with an anomalous origin from the pulmonary artery, is a rare disease which may result in myocardial infarction, congestive heart failure, and sometimes death during the early infantile period. A 72 year old woman with ALCAPA syndrome is presented. The asymptomatic patient presented with a cardiac murmur which was discovered during a routine check up for a gynaecological intervention. Coronary cineangiography established the diagnosis. Although surgical correction is the usual treatment for such cases, medical treatment was preferred for this patient because she was asymptomatic without clinical signs of heart failure.

3D-Printing in Congenital Cardiology: From Flatland to Spaceland

Medical imaging has changed to a great extent over the past few decades. It has been revolutionized by three-dimensional (3D) imaging techniques. Despite much of modern medicine relying on 3D imaging, which can be obtained accurately, we keep on being limited by visualization of the 3D content on two-dimensional flat screens. 3D-printing of graspable models could become a feasible technique to overcome this gap. Therefore, we printed pre- and postoperative 3D-models of a complex congenital heart defect. With this example, we intend to illustrate that these models hold value in preoperative planning, postoperative evaluation of a complex procedure, communication with the patient, and education of trainees. At this moment, 3D printing only leaves a small footprint, but makes already a big impression in the domain of cardiology and cardiovascular surgery. Further studies including more patients and more validated applications are needed to streamline 3D printing in the clinical setting of daily practice.

Drug Therapy in Adult Congenital Heart Disease Heart Failure

As in acquired heart failure (HF), drug therapy is a major component of HF treatment in ACHD. However its precise role and the optimum treatment strategies are controversial in this evidence-sparse field. This chapter offers a structured and systematic approach to considering the best pharmaceutical intervention for the various types of ACHD-related HF. The current literature is reviewed and suggestions made about how best to apply this to clinical practice. The importance of expert opinion and consolidated experience in treating complex ACHD patients with HF cannot be overemphasised.

Definition and Management of Segmental Pulmonary Hypertension

The World Pulmonary Hypertension Symposium in 2013 (Nice, France) introduced a new entity in the classification for pediatric and adult patients called “segmental pulmonary hypertension (PH).”1 Segmental PH was described in the international 2015 guidelines as PH “observed in discrete lung areas perfused by aortopulmonary collaterals in congenital heart diseases such as pulmonary or tricuspid atresia,”2 while the proceedings of the Nice World Symposium1 defined this as “PH in one or more lobes of one or both lungs.” Others have defined segmental PH more broadly as PH that does not follow a homogeneous distribution, with some parts of the pulmonary vasculature being exposed to higher pressures than others.3 n nThis entity was included under the umbrella of World Heart Organization group 5 (PH caused by unclear or multifactorial mechanisms), because little is known about its pathophysiology and response to pulmonary arterial hypertension (PAH) therapies.1, 2 Segmental PH is most commonly encountered in patients with congenital heart disease (CHD) and carries notable similarities to PAH (Group 1.4.4, PAH associated with CHD) and group 4 of the PH classification (Group 4.2.4 PH in patients with congenital pulmonary artery [PA] stenoses), yet there is no systematic description of the broad spectrum of conditions encompassed by this entity or its distinct pathophysiological features and how these may affect management. n nWe present herewith a consensus statement on segmental PH, including a working definition, range of conditions that may be classified under this entity, description of pathophysiology in terms of pulmonary vasculature, cardiovascular anatomy, and management principles.

Training and Recommendations for Exercise

Exercise capacity and quality of life are significantly reduced in patients with pulmonary arterial hypertension (PAH) secondary to congenital heart disease (PAH–CHD) [1, 2]. Physical performance is most severely impaired in the Eisenmenger syndrome [2]. In patients with idiopathic pulmonary hypertension, exercise training as add-on to medical treatment seems to improve exercise capacity, quality of life and functional class [3–5]. Data on the effect of exercise training in patients with PAH–CHD is limited; however, if exercise training is performed in a safe manner [6], a global beneficial effect can be expected.

Exercise Tolerance in Children with Simple Congenitally Corrected Transposition of the Great Arteries: A Comparative Study

Background: The aim of our study was to investigate the exercise capacity of children with congenitally corrected transposition of the great arteries without signifi cant associated heart defects (l-TGA) in comparison with children with the classical type of TGA (d-TGA) and a healthy control group.

Pulmonary hypertension in the changing landscape of congenital heart disease: Global differences and a possible driver of end-stage heart failure

In this issue of the Netherlands Heart Journal, the articles of Van Riel etxa0al. and Couperus etxa0al. focus on some of the questions encountered in contemporary clinical congenital cardiology practice [1, 2]. n nPulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is rare, with an estimated prevalence between 1.6 and 12.5xa0cases per million adults [3]. Registries have provided important information on the epidemiology and clinical phenotype of patients with PAH-CHD [4–6], but have often been limited to axa0Western, white patient population, limiting comparison between population demographics and healthcare delivery systems. The article by Van Riel etxa0al. provides valuable new information [2]. They showed that despite having worse exercise performance at baseline, Singaporean patients not only had similar improvement on exercise capacity, but even better survival when compared with their Dutch counterparts. Age at initiation of disease-targeting therapy (either phosphodiesterase-type-5 inhibitors, endothelin receptor antagonists, or axa0combination) was the strongest predictor of treatment efficacy and outcome [2]. n nAlthough the authors subsequently state that early initiation of (combination) disease-targeting therapy is important for outcome, which is probably correct and supported by other studies [7, 8], the observed difference may also reflect axa0changing phenotype of the patient with PAH-CHD. Increased awareness, better screening tools and an ageing population have shifted demographics in idiopathic PAH registries from axa0younger, predominantly female patient population in the first US National Institutes of Health (NIH) registry to an older patient population with axa0more equal gender distribution in more contemporary registries [9–11]. In contrast, registries from China still show demographics similar to the early US NIH studies [12]. Similarly, it is likely that due to improved survival of moderate and complex CHD, increased awareness for PAH, and ageing of the CHD population in Western countries, the profile of the adult PAH-CHD patient has changed. More patients will have PAH-CHD which developed after (and despite of) one or multiple surgical procedures rather than the ‘classical form’ of Eisenmenger’s syndrome due to unrepaired shunt lesions at birth [6, 13]. n nThis change in phenotype of PAH-CHD is nicely highlighted in the article by Couperus etxa0al. which provides axa0fascinating insight into the tailored treatment of some of the patients presenting with pulmonary hypertension after having had surgical repair or palliation in the past [1]. Although the current guidelines definitively provide axa0handhold [14], it is undeniable that some cases fall between the cracks of these guidelines. In their article, Couperus etxa0al. describe two patients who had progressive right ventricular failure due to pulmonary hypertension (one in the presence of axa0recanalised central shunt with left-to-right shunting), one patient with worsening cyanosis in the setting of axa0hypoplastic pulmonary vasculature resulting in pulmonary hypertension with right-to-left shunting and one with pulmonary hypertension associated with increased left atrial pressure due to atrioventricular valve stenosis in the setting of axa0univentricular heart [1]. It is clear that all four patients had heart failure with pulmonary (arterial) hypertension being the main driver of the heart failure symptoms, but their specific cases may not be covered in detail by recently published recommendations for CHD heart failure [15]. It is also immediately clear that heart failure in adults with CHD is vastly different from ‘classic’ heart failure in the general population, developing at an earlier age (patients were 23 to 49xa0years of age at the time of intervention [1]), and often with an underlying ‘heart failure-inducing’ haemodynamic lesion. In such circumstances surgery or percutaneous interventions may improve heart failure, even in the setting of pulmonary hypertension. It is clear that in the future there will be axa0need for specialised heart failure units for adult CHD patients, with close communication and collaboration between adult CHD specialists, heart failure specialists (indication for assist device; transplantation), cardiac surgeons (indication for assist devices; transplantation; intervention), interventional cardiologists, imaging and pulmonary hypertension specialists to care for those patients with complex PAH-CHD. n nRegistries are crucial in order to describe the clinical phenotype and outcome of patients with PAH-CHD to extend knowledge and to serve as axa0base for future research hypotheses. Axa0global approach helps to increase the number of patients studied and to understand the impact of ethnicity in PAH-CHD. Axa0change in the phenotype of the PAH-CHD patient is reflected in axa0growing number of complex CHD patients with axa0subsequent increase in the prevalence of pulmonary hypertension. Often, rather than the prototypical Eisenmenger patient, these are heart failure patients in whom pulmonary hypertension has become the driver of their heart failure symptoms. An adult CHD specialist with understanding of the underlying cardiac anatomy, the physiology of pulmonary hypertension, and the triggers of heart failure is mandatory in the teams that participate in the care of these kinds of patients.