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Clinical problems in hypertrophic cardiomyopathy

  • Hypertrophic cardiomyopathy and pregnancy, presented by T M Helio (Helsinki, FI) - Slides
  • Hypertrophic cardiomyopathy in children, presented by J Mogensen (Aarhus, DK) - Slides
  • Substrate for sudden death and risk evaluation, presented by F Cecchi (Florence, IT)
  • Management of asymptomatic mutation carriers, presented by J R Gimeno Blanes (La Alberca, ES) - Slides
Congenital Heart Disease in Children and Adults (GUCH)

Dr Tiina Heelio, from Finland reviewed in the first presentation the topic of HCM in Pregnancy. As she commented, pregnancy, delivery and postpartum are associated with important physiological changes that may represent a relevant challenge for a woman with HCM. Dr Heelio commented some of the main publications about the topic, including the papers published by Sin et al (Circulation 2001), Autore et al (JACC 2002) and Thaman et al (Heart 2003). All the information suggests that pregnancy and delivery are usually well tolerated in women with HCM. Symptoms may worsen in less than 10% of the patients, and usually in those previously more symptomatic. Sudden death is extremely rare but could occur in high risk patients with severe or multiple risk factors or due to an inappropriate management. Medications should be used with caution. Beta-blockers are recommended in symptomatic patients with obstruction and calcium antagonists in those symptomatic women with non obstructive disease. Amiodarone, dysopiramide, ACE inhibitors and ARB blockers should be avoided and diuretics should be used with caution if they are necessary. Vaginal delivery is safe and both epidural and general anaesthesia may be used, with an adequate fluid management. Of course preconceptional genetic counselling is recommended in women with HCM. In pregnant patients it is important to consider the previous situation which determines the risk of complications. In any case these patients should be followed and attended with special dedication.

The second talk, given by Dr Mogensen, from Denmark, was about HCM in children. Dr Mogensen started showing the importance of understanding that HCM is a very heterogeneous disease, especially in children. He showed data on the North American Registry published by Colan et al (Circulation 2007) in which paediatric HCM were considered idiopathic in 75% of their cases. In the 25% with a recognized etiology, they describe 42 different causes, including mitochondrial and metabolic diseases and multiple rare syndromes. More recent studies published in 2008/2009 have shown that in many of those cases previously considered as idiopathic, the origin of the disease is a sarcomeric gene mutation. In those series, the percentages of patients with a positive genetic study for a sarcomeric gene mutation was 55% (Harvard group, USA), 54% (Heart Hospital Group, London) and 41% (Naples group, Italy). Dr Mogensen commented the relevance of the study of the relatives and genetic studies in patients with idiopathic HCM. Regarding the prognosis of paediatric HCM, available data presented by Dr Mogensen show that it is quite poor in children with early onset of the disease (<1 year), and in those caused by metabolic diseases or complex syndromes; while it is better in those presented in patients older than 1 year, in idiopathic HCM and in HCM associated with neuromuscular problems. Dr Mogensen also reviewed the issue of the screening of children from HCM families. While the guidelines suggest starting the screening at age 12 years, Dr Mogensen considers that clinical screening should be offered from age 5 years, reviews should be performed yearly during adolescence and at increased intervals post-adolescence. Genetic testing should be discussed with parents taking in consideration both problems (risk of stigmatization and insurance issues) and the potential benefits (end of follow up in non/carriers and ensure follow up in carriers). Finally, the treatment of symptomatic children was reviewed: obstructive HCM with Betablockers, Diltiazem, possible Myectomy, non/obstructive with verapamil; and risk stratification is mandatory including the evaluation of family history, symptoms (syncope), non/sustained VT in Holter, blood pressure response on exercise test, severity of the hypertrophy and obstruction. However, data about the rules to decide ICD implantation are not conclusive because the available information is scarce.

The third presentation, by Dr Franco Cecchi , from Italy, was about Substrate for sudden death and risk evaluation in hypertrophic cardiomyopathy. Dr Cecchi did an excellent review of the issue which started with the demonstration of the relevance of the understanding of the etiologic, clinical and functional heterogeneity of the disease. He presented the multiple mechanisms and substrates for sudden death and progression that may be present with variable severity and characteristics, including hypertrophy, disarray, fibrosis, small vessels disease with microvascular dysfunction, mitral valve abnormalities, non/compacted areas (still not very well understood its significance in HCM) and obstruction (not only sub aortic, but also mid ventricular with apical aneurysms in some patients). He commented on the interest of the evaluation of microvascular dysfunction and the potential relation of this feature with the presence of myofilament mutations (patients with mutations and carriers show more dysfunction than patients without mutations and non/carriers respectively). Dr Cecchi briefly commented on the ongoing studies on the effect of ranolazine improving calcium handling in patients with HCM. He also insisted on the interest of considering additional risk factors in the risk stratification of HCM, such as QTc prolongation and systolic dysfunction. He also drove our attention to the variable progression of the disease. Even though sudden death is the most devastating and studied complication in HCM, it is not the most frequent. He showed that arrhythmias (especially atrial) occupy the first place in the frequency ranking, symptomatic progression is the second, heart failure/heart failure death is the third and sudden death is the fourth, so we have to pay attention to AF, stroke and heart failure progression in HCM. Finally, Dr Cecchi presented a warning on the inappropriate use of ICD. ICDs may save life and are indicated in patients with multiple risk factors, but we have to remember and explain to the patients the potential complications including inappropriate discharges, infections, haemorrhage, lead complications and psychological impact of the device.

In the last presentation, Dr Juan Ramon Gimeno, from Murcia, Spain, talked about the management of asymptomatic mutation carriers. In this excellent review, Dr Gimeno explained that patients with HCM undergo different phases in their natural history: gene carrier without phenotype, phenotype without symptoms and finally symptomatic patient. The disease shows and age dependent presentation and early diagnosis is relevant to avoid complications. However, not all the mutant carriers will develop the disease. It is important in this setting to consider early subclinical markers of the disease. Dr Gimeno on the relevance of early ECG markers like left axis deviation, echocardiographic markers like the increase in interventricular septum/posterior wall thickness ratio and the E/e ratios, the potential role of MRI and late gadolinium enhancement and of laboratory parameters like the collagen synthesis and degradation peptides. In all these cases, the problems in establishing the role of these markers come from the small numbers of studied patients. Dr Gimeno also reviewed the issue of risk stratification in non-affected carriers. These individuals (still not patients) have low frequency of NSVT and no LV hypertrophy, but show similar frequencies of abnormal blood pressure response on exercise, family history of sudden death and syncope as carriers with phenotype. The incidence of sudden death in carriers without phenotype is extremely low. Regarding the prevention of complications, Dr Gimeno commented the recommendation of lifestyle changes including avoiding hypertension and isometric and competitive exercise, even though evidence on this issue is absent. Dr Gimeno concluded that early disease can be found in carriers using different markers, being diastolic dysfunction one of the initial manifestations of the disease. He remarked that the risk is low in those carriers without phenotype and that follow up is mandatory.




Clinical problems in hypertrophic cardiomyopathy

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.