Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy

Cardiovascular Ultrasound

Review

Pasquale Palmiero¹  Maria Maiello¹  Vito Maurizio Parato²  Stefania Marazia³  Valeria Antoncecchi⁴  Fabiola Sozzi⁵  Annapaola Zito⁶ 

[1]ASL BR, Health Center, Districtual Cardiology, Brindisi, Italy

[2]Cardiology Unit and EchoLab of Emergency Department, Madonna del Soccorso Hospital, Politecnica delle Marche University, 3-7, Via Manara, 63074, San Benedetto del Tronto-Ascoli Piceno, Italy

[3]Cardiology Unit, Giannuzzi Hospital, Manduria, Italy

[4]Cardiology Unit, Sarcone Hospital, Terlizzi, Bari, Italy

[5]Cardiology Unit, University Policlinico Hospital, Milan, Italy

[6]Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Bari, Italy

关键词: Hypertrophy;    Cardiomiopathy;    Echocardiography;   

DOI  :  10.1186/s12947-016-0072-5

 received in 2016-03-15, accepted in 2016-07-19,  发布年份 2016

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Parato et al. 2016