Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy.

Vito Maurizio Parato,Maria Maiello,Valeria Antoncecchi,Pasquale Palmiero,Stefania Marazia,Annapaola Zito,Fabiola Sozzi

doi:10.1186/s12947-016-0072-5

Abstract

Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder of great genetic heterogeneity and has a prevalence of 0.1 – 0.2 % in the general population. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Then, HCM is an extremely heterogeneous disease and several phenotypes have been described over the years. Originally only two phenotypes were considered, a more common, obstructive type (HOCM, 70 %) and a less common, non-obstructive type (HNCM, 30 %) (Maron BJ, et al. Am J Cardiol 48:418 –28, 1981). Wigle et al. (Circ 92:1680–92, 1995) considered three types of functional phenotypes: subaortic obstruction, midventricular obstruction and cavity obliteration. A leader american working group suggested that HCM should be defined genetically and not morphologically (Maron BJ, et al. Circ 113:1807–16, 2006). The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases recommended otherwise a morphological classification (Elliott P, et al. Eur Heart J 29:270–6, 2008). Echocardiography is still the principal tool for the diagnosis, prognosis and clinical management of HCM. It is well known that the echocardiographic picture may have a clinical and prognostic impact. For this reason, in this article, we summarize the state of the art regarding the echocardiographic pattern of the HCM phenotypes and its impact on clinical course and prognosis.

Highlights

Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disease and its prevalence is estimated to be one case per 500–1000 among the general population.Hundred mutations in more than 27 genes are associated with the HCM phenotype; most of them encode for sarcomeric structures, while only 5–10 % of HCM patients show other genetic mutations or non genetic causes [1].For this reason HCM can be mainly meant as a sarcomeric disease, with myocardial fibers disarray as its histological hallmark.In 2006, the American Heart Association Working Group [2] suggested that HCM should be defined genetically and not morphologically.Subsequently, the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases recommended a morphological classification [3] including non- sarcomeric forms of HCM
In this article, we review the echocardiographic pattern of the principal HCM phenotypes
We know that ∼ 30–60 % of patients with HCM present with systolic anterior motion (SAM) and, in 25–50 % of these, left ventricular outflow tract obstruction (LVOTO) is demonstrated

Summary

Introduction

Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disease and its prevalence is estimated to be one case per 500–1000 among the general population.Hundred mutations in more than 27 genes are associated with the HCM phenotype; most of them encode for sarcomeric structures, while only 5–10 % of HCM patients show other genetic mutations or non genetic causes [1].For this reason HCM can be mainly meant as a sarcomeric disease, with myocardial fibers disarray as its histological hallmark.In 2006, the American Heart Association Working Group [2] suggested that HCM should be defined genetically and not morphologically.Subsequently, the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases recommended a morphological classification [3] including non- sarcomeric forms of HCM. We know that ∼ 30–60 % of patients with HCM present with SAM and, in 25–50 % of these, left ventricular outflow tract obstruction (LVOTO) is demonstrated.

Results

Conclusion