Cardiomyopathy outpatient clinic
Cardiomyopathy outpatient clinic
Cardiology and Cardiovascular Medicine Unit
Reference physicians: Dr Andrea Barison (coordinator), Dr Chrysanthos Grigoratos, Dr Alberto Giannoni, Prof Claudio Passino, Dr Giancarlo Todiere, Dr Giuseppe Vergaro, Prof Michele Emdin (Head of the Unit)
The Cardiomyopathy laboratory was set up to provide a comprehensive care pathway for patients suffering from diseases that directly affect the heart muscle (cardiomyopathies or myocardiopathies), classically divided into dilated, hypertrophic, arrhythmogenic, restrictive and non-compaction cardiomyopathies, but also including additional forms with different phenotypes.
Cardiomyopathies may be due to a genetically determined familial predisposition (mutations in numerous genes, including sarcomeric, nuclear, mitochondrial, cytoskeleton, desmosome and ion channel genes), or to causes acquired in the course of life (e.g. myocarditis, inflammation, infection, metabolic disorders, exposure to toxic substances, alcohol, drugs, amyloid and iron build-up); cardiomyopathies in which no specific cause can be identified are termed idiopathic.
Lastly, cardiomyopathies must be distinguished from cardiac diseases secondary to causes external to the myocardium, in which the heart becomes dysfunctional due to coronary artery disease (as in acute and chronic ischaemic heart disease), pressure or volume overload (as in systemic and/or pulmonary arterial hypertension, valvular diseases, congenital cardiac malformations) or diseases of the pericardium.
The possible manifestations of cardiomyopathies are extremely varied, both from a morphological-functional point of view (different degrees of dilatation, hypertrophy or pseudo-hypertrophy, systolic and/or diastolic dysfunction of the left and/or right ventricle, valve dysfunction), ultrastructural (different patterns and degrees of fibrous/adipose replacement), arrhythmic (atrioventricular blocks, intra- and interventricular blocks, ventricular and supraventricular arrhythmias), systemic (due to the possible involvement of other organs such as the central and peripheral nervous system, muscular, endocrine, renal), symptoms (asthenia, dyspnoea, angina, palpitations, syncope) and the course of the disease (response to therapy and reverse remodelling).
Patients suffering from cardiomyopathy are therefore extremely heterogeneous and have a real need for the most “customised” medicine possible for their diagnosis and treatment, based on highly specialised cardiology consultation, in close contact with colleagues from other disciplines, with other national and international specialist cardiology centres (including rare disease networks) and with the evolving scientific and therapeutic knowledge of the diseases.
In line with the most recent international recommendations, patients with cardiomyopathy therefore undergo a clinical, biohumoral and imaging assessment aimed at diagnosing the disease, ruling out potential secondary causes (ischaemia, coronary artery disease, valvulopathies, hypertension, congenital structural heart disease, pericardial diseases) or reversible causes (alcohol, tachycardiomyopathies, toxic agents) and instituting appropriate medical and/or interventional therapy. In selected cases, more specific examinations are recommended, such as genetic investigations for patients with a family history of heart disease and/or multi-specialist evaluation for patients with suspected systemic diseases.
The cardiomyopathy outpatient clinic has been active at Monasterio for several years, and is constantly being renewed and updated with respect to scientific, clinical and instrumental developments, including in particular the most advanced multimodal imaging techniques (echocardiography, cardiac MRI, stress echocardiogram, angioCT, SPET and PET), biohumoral and functional characterisation (ergospirometry, dynamic and pressor Holter, polysomnogram) and recent genetic and molecular biology technologies (next-generation sequencing), in collaboration with the medical laboratory.
Forms secondary to amyloid protein accumulation and exposure to chemotherapy agents are then referred to the specific outpatient clinics for cardiac amyloidosis and cardio-oncology, respectively, while cardiomyopathies related to ion channel diseases (long QT, short QT, catecholaminergic polymorphic tachycardia, Brugada) are referred to the channelopathy outpatient clinic. Moreover, for many years Monasterio has been collaborating with numerous other reference centres for cardiomyopathies and rare diseases more generally, constantly keeping up to date with national and international scientific evidence and actively contributing to scientific research itself. Collaborations worthy of mention at local level include that with the various Units of the Pisa University Hospital, in particular Neurology (for cardiomyopathies associated with myopathy, Becker’s muscular dystrophy, Duchenne, Steinert, Emery-Dreifuss, laminopathy, mitochondrial diseases), Endocrinology (for forms associated with endocrine and metabolic disorders), Rheumatology (for cardiomyopathies associated with connective tissue disease, vasculitis and other autoimmune diseases), Haematology (for cardiomyopathies associated with immune and/or haematological disorders, chain deposition, iron deposition), Nephrology (for systemic forms with renal involvement), Sports Medicine (for the differential diagnosis of the athlete’s heart, i.e. ventricular remodelling due to intense physical activity), and the Units of Internal Medicine and Emergency Medicine. At the regional level, collaborations with the Regional Reference Centre for Cardiomyopathies of the Careggi University Hospital (Florence), with the Regional Reference Centre for Amyloidosis of the Careggi University Hospital (Florence), and with the San Donato Hospital in Arezzo for Fabry disease are worth mentioning. Numerous other national and international collaborations are also in place, both directly and through leading national and international cardiology scientific societies, aimed at offering patients the best treatment opportunities and ensuring constant updates following the latest scientific advances in the cardiovascular field.