Myocardiopathies are diseases where the myocardium is weak, dilated or has some other structural problem. Often, the heart is unable to pump or work properly. In the case of inherited myocardiopathies, due to the fact they are often treated as part of uncommon diseases, specialist management is not within the scope of all clinical cardiologists. It requires specific treatment and involves specific technology.

We have an outpatient clinic connected to a day hospital and conventional hospitalisation, with support from the Imaging, Haemodynamics, Electrophysiology and Arrhythmias Units.

This Unit is also responsible for teaching and research. It is connected to the Genetics Unit with a unit for clinical research and a unit for basic research.

The main healthcare objectives of our Unit are:

• Excellence in care for index patients and family members with hereditary and/or genetic myocardial diseases.
• The creation of a protocol for medical action in these diseases.
• Homogenisation of care.
• The optimisation of care resources, reducing the overall cost of treatment.
• The provision of technology required for patients.
• The performance of genetic studies on patients (control index) and relatives.
• Genetic counselling for families and individuals, which predict the likelihood of passing the illness on to children.
• We provide consultations for other doctors, both at our hospital and other hospitals and primary care centres.
• Creation of fast-stream pathways for referral or interconsultations for cases where the patient must be referred to another professional.
• Reduction of barriers that often limit direct contact between patients and healthcare staff, as well as communication between staff and other institutions.

The Hereditary Angioedema Unit (UAEH) of Vall d’Hebron University Hospital’s Allergology Department has been treating patients with this disorder for more than 25 years.

UAEH outpatients are treated by allergology specialists in a multidisciplinary manner in the Outpatient Clinic in the Old Nursing School and in the Children’s and Women’s Hospital, ensuring transference and continuity of care from childhood through to adulthood for this genetic, lifelong condition.

The Unit is made up of popular, immunologists, geneticists, gynaecologists, maxillofacial surgeons, pharmacists and nurses, who are responsible for:

• diagnosing and monitoring patients
• conducting immunological and genetic studies
• providing health education to ensure that patients are capable of recognising angioedema episodes and self-administering their treatment
• treating patients in special situations such as pregnancy, delivery, the postpartum period and during complex dental procedures.

Depending on the type of care to be given to patients with diagnosed hereditary angioedema and their profile, they should be treated by the following divisions and/or units:

 

Allergology Outpatient Clinic and Day Hospital

The specialists who work in the adult and paediatric allergology sections are responsible for treating patients aged 16 and under in the Children’s Hospital areas and subsequently facilitating their transfer and continuity of care with monitoring to the adult care departments in the Old Nursing School and the Allergology Day Hospital in the General Hospital.

The Hereditary Angioedema Unit (UAEH) offers an outpatient service to monitor patients with this disease: the Outpatient Clinic on the second floor of the Old Nursing School. Also, as it is a multidisciplinary unit, and depending on the type of patient (child, adult, pregnant woman), it provides care in a number of departments and units in the Children’s and Women’s Hospital, the General Hospital and A&E.

The nursing team specialises in education and specific care for patients with this disease.

 

A&E Care

Emergency care is provided at the Children’s Hospital for patients up to the age of 16 and at the General Hospital from the age of 17. The professionals who work in the A&Es have been trained to recognise the symptoms of this disease and to quickly provide its specific treatment.

 

Maxillofacial Surgery Outpatient Clinic

When a patient needs a complex dental or maxillofacial procedure they will be assessed by the hospital’s maxillofacial surgeons and their operation will be organised with the suitable prophylaxis.

 

Patients who have hereditary angioedema and who are pregnant

The Obstetrics, Foetal Medicine and Anaesthesia Departments have created a Working Unit for High-Risk Pregnancies for women with hereditary angioedema with the aim of monitoring the well-being of mother and child during pregnancy and of providing care during the delivery and postpartum period in accordance with a protocol specific to their type of hereditary angioedema and clinical situation. Care is also provided for high-risk postpartum cases.

In parallel to these services, there is also a reproductive counselling clinic for women with hereditary angioedema. The clinic is part of the Hereditary Angioedema Unit, and is that provided in conjunction with Gynaecology in the Outpatient Clinics of the Children’s and Women’s Hospital.

In this clinic an allergist and a gynaecologist combine their expertise to determine, in accordance with the patient’s clinical situation and type of hereditary angioedema, the possible effects of their having children. Their mission is to provide information and advice in relation to family planning and the reproductive possibilities of the patients living with this disease.

The Clinical and Molecular Genetics department is a reference centre in Catalonia in the diagnosis and care of patients with rare genetic diseases, and we are also responsible for significant research and teaching activity.

Our clinical genetic consultation offers comprehensive care for patients with genetic illnesses and their families, based on diagnosis, monitoring, management and genetic counselling.

Our main objective is to create a functional unit around a single diagnostic process, covering everything from the clinical point of view to diagnostic testing, for genetic diseases, taking into account their complexity and the need for comprehensive, multidisciplinary treatment.

We have been officially classified as a member of the first Network of Clinical Expertise Units (XUEC) for the treatment of rare diseases in Catalonia, which is devoted to treating genetic cognitive/behavioural illnesses in children. Created by the Catalan Health Service (CatSalut). Thanks to this recognition, the Clinical Expertise Units (UEC) lead the way in diagnosing and caring for those affected by this type of disease in accordance with the criteria and requirements established by the rare diseases protocol in Catalonia.

 

How it works

Care for patients and relatives in the field of genetics includes four main activities:

• The diagnosis of genetic illnesses or disorders by integrating personal and family clinical information, a detailed physical examination and information from genetic studies.
• Communication of this information, in a way that is clear and understandable, about the disease that we have diagnosed, its consequences for the patient and their family, the risk of transmission or recurrence and the possibilities of preventing recurrence of the disease.
• The referral of patients and relatives to the various specialised professionals and support groups necessary for proper comprehensive treatment depending on each individual case.
• Coordination between the multidisciplinary group of specialists that monitor and take care of the various specific pathologies of any given patient. One such example is patients with Noonan syndrome.

 

More specifically, the clinical activity of the genetic consultation relating to diagnosis of genetic disorders is concentrated in a series of specific functional groups that include:

1. Dysmorphological diagnosis: clinical visits with questions about patient history and a detailed physical examination in which phenotypic features and congenital malformations presented by patients are assessed to see how they can help determine the genetic cause.
2. Genetic counselling: clinical visit and data collection in any circumstance that may involve the presentation or recurrence of a genetic disorder.
3. Foetal dysmorphology: study of foetuses with malformations diagnosed in a prenatal ultrasound during pregnancy.
4. Monographic consultations: we are constantly providing consultations for patients who have been admitted (mainly from the Maternity and Children's Hospital), in whichever hospitalisation ward they are in.
5. Activity in transversal units: in recent years, a protocol has been drawn up with other medical staff from the hospital aimed at promoting transversal units for the treatment of genetic pathologies that are especially prevalent in our patients. These areas or programmes that are transversal and include various units include the Marfan Consultation Unit; the Genetic Counselling for Hereditary Heart Disease Consultation; post legal abortion Genetic Counselling Clinic; the Child Oncogenetics Clinic; and the Non-syndromic neurosensory hearing loss clinic.
6. Multidisciplinary Consultation Groups. These groups discuss patients with different rare syndromic pathologies that are treated by different specialists.
7. Participation on various specific committees made up of our hospital specialists.
8. Interactions with patient associations. Regular meetings with various patient associations in order to optimise communication, help meet their needs, cooperate in health education and define aspects related to improving integration of patients into the processes and follow-up protocols that affect them. This includes, FEDER Catalunya, FEDER Central and the Catalan Rare Illnesses Federation (FECAMM). We also collaborate closely with patient associations from countries such as Italy, France, Chile and Argentina.

 

Research

We pursue several lines of research that are part of Vall d'Hebron Research Institute (VHIR) research groups. This includes the Genetic Medicine Research Group and our collaboration with other groups from Oncogenetics, Mitochondrial Diseases, Endocrinology and Paediatric Pneumology.  

 

Teaching

Our teaching activity covers undergraduates, postgraduates and continuing education of professionals interested in the field, including theoretical classes, academic placements on the unit, and supervision of final year and master's degree projects. Medical staff from our department participate actively in the following master's programmes:

• Master’s in Biochemistry, Molecular Biology and Biomedicine (Autonomous University of Barcelona)
• Master's in Developmental Biology and Human Genetics (University of Barcelona)
• Master’s in Genetic Counselling (Pompeu Fabra University)
• Master's in the Foetal Medicine Unit by the Obstetrics Department
• Master's in Medical Genetics (University of Valencia)
• Master’s in Biomedical Research (Vall d'Hebron Research Institute)

We also organise seminars and courses for different groups, such as nursing professionals, consultants, residents and educators.

In collaboration with the FEDER (the Spanish Rare Diseases Federation), we have set up ourWorkshops for Patients with Rare Diseases: looking beyond the disease.