Dr. Frans Hendrik Rutten
View the Slides from this session in ESC Congress 365
The new guidelines on Hypertrophic Cardiomyopathy (HCM) stress the need for "life-long individualised patient care."
In this rare (prevalence rates in adults 0.02%-0.23%) but important disease, Claudio Rapezzi (Bologna, IT) focussed on the diagnosis and stresses that HCM is first and foremost a clinical diagnosis, defined by the presence of increased left ventricular (LV) wall thickness of 15 mm or more in one or more LV myocardial segments by any imaging technique not solely explained by abnormal loading conditions.This should signal careful history taking, including extensive evaluation of the family history, assessment of signs and symptoms, ECG, and laboratory testing. A number of non-cardiac signs and symptoms act as pointers for specific causes for HCM, such as learning difficulties or mental retardation, sensorineural deafness, visual impairment, gait disturbances and paraesthesia, among others. Multiple abnormalities on the ECG should be considered and echocardiography be performed at rest, Valsalva and while standing with special attention for left ventricular outflow tract obstruction (LVOTO). Ejection fraction is typically normal or increased in patients with HCM, but LV systolic performance may be poor in the presence of hypertrophy. Cardiovascular magnetic resonance (CMR) imaging can provide additional information, especially with late gadolinium enhancement (LGE). For the risk assessment, however, CMR is not considered. In the case of ‘diagnostic red flags’, that is, features suggesting a specific genetic or acquired disorder causing the hypertrophy, the patient may receive further specialised tests and multidisciplinary input. In other cases, genetic testing should be considered to define disease causing sarcomeric protein gene mutation or not. There is ‘a kingdom’ of causes for HCM; in 40-60% of cases sarcomeric protein gene mutation, in 5-10% other genetic or non-genetic causes, and finally in 25-30% the cause remains unknown.
Phillip Charron (Paris, FR) provided guidelines for the genetic testing, stressing the importance of councelling by professionals trained for this specific task working within a multidisciplinary specialist team. HCM is usually inherited as an autosomal dominant genetic trait with a 50% risk of transmission to offspring. Especially when considering genetic testing of relatives one has to realise that most have no symptoms and they need to know the consequences of a diagnosis for life insurance, pension, occupation, sporting activities, and eligibility for fostering and adaptation before they are tested. The genetic testing of children should be guided by the best interest of the child and consider potential benefits and harms such as compromised life insurance prospects. Stephano Nistri (Altavilla Vicentina, IT) discussed the different imaging modalities that can be applied in HCM. He stresses the importance of age and highlights differences between a young adult and old person, and the importance of lifelong follow up, with an evaluation at least every 12, including ECG and echocardiography.
Franco Cecchi (Florence, IT) highlighted the symptoms that go along with HCM such as chest pain, symptoms related to heart failure, and syncope. There is a heterogeneous pathophysiology of heart failure in HCM and atrial fibrillation should be paid special attention to because it often develops as a comorbid condition in these patients. Cardiopulmonary exercise testing is useful to get an overall impression of the patient. HCM may be considered as “a lifelong progressive adverse cardiac remodeling starting from concentric going to eccentric with finally myocardial fibrosis and wall thinning”. Non-vasodilating beta-blockers are first line therapy. If ineffective, additional therapy with disopyramide should be considered ensuring that the QTc interval does not exceed 280 ms. When beta-blockers are contraindicated or ineffective, verapamil or diltiazem should be considered. In those with a LVOTO gradient of 50 mmHg or more, surgery or alcohol ablation may be an option.
Finally, Perry Elliot (London, GB), the chairman of the Task Force, provided details on the newly developed rule to predict the risk of sudden cardiac death (SCD). The risk of SCD is in general not so high in HCM (5% per 5 years), but it can range from 0%-30%. Therefore, there was an urgent need for individual, absolute risk prediction. With in total six items; three items from echocardiography, a family history of SCD, unexplained syncope and age at clinical evaluation a validated individualized risk prediction can be calculated. Importantly, this risk calculation is now made easily applicable in daily practice because the ESC provides it as an app for smartphones.
ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy, The Committee for Practice Guidelines
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