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Pathology and Pathophysiology

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Hypertrophic Cardiomyopathy

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Abstract

Hypertrophic cardiomyopathy (HCM) is a primary and usually familial cardiac disorder with heterogeneous expression, unique pathophysiology, and a diverse clinical course. Clinically HCM requires a hypertrophied non-dilated left ventricle without evidence of any other cardiac or systemic disease that could produce the extent of hypertrophy observed. In the vast majority of individual adults dying from HCM, there is cardiomegaly typically in the range of twice the normal heart weight. The characteristic histological features in HCM are the presence of marked myocyte hypertrophy, myofiber disarray, left ventricular outflow tract plaque, intramural coronary abnormalities, and interstitial fibrosis. The pathophysiology of HCM is complex and consists of multiple interrelated abnormalities, including left ventricular outflow tract obstruction, diastolic dysfunction, mitral regurgitation, myocardial ischemia, and arrhythmia. Sudden death is not an uncommon complication of HCM and is often precipitated by exercise. The frequency of sudden death in HCM is up to 1% per year in adults with 2–4% per year in children and adolescents.

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Abbreviations

HCM:

Hypertrophic cardiomyopathy

MRI:

Magnetic resonance imaging

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Authors and Affiliations

  1. CVPath Institute, Inc., Gaithersburg, MD, USA

    Atsushi Sakamoto, Kazuyuki Yahagi, Maria Romero & Renu Virmani

Authors
  1. Atsushi Sakamoto
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  2. Kazuyuki Yahagi
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Correspondence to Renu Virmani .

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Editors and Affiliations

  1. Westchester Medical Center, Valhalla, NY, USA

    Srihari S. Naidu

Posttest

Posttest

  1. 1.

    Which of the following percent is representative of the actual incidence of HCM in the general population?

    1. A.

      0.002%

    2. B.

      0.02%

    3. C.

      0.2%

    4. D.

      2%

    5. E.

      20%

    Answer: C

    Comment: Epidemiological studies from several parts of the world report a similar prevalence of LV hypertrophy, the quintessential phenotype of HCM, to be 0.2% in the general population, which is equivalent to at least 600,000 affected individuals in the USA.

  2. 2.

    Which of the following is not likely to be detected on gross pathologic examination of HCM?

    1. A.

      Left atrial dilatation

    2. B.

      Increased heart weight

    3. C.

      Ventricular scarring

    4. D.

      Left ventricular outflow tract plaque

    5. E.

      Myofiber disarray

    Answer: E

    Comment: HCM shows left atrial dilatation due to decreased left ventricular compliance, and, in a few cases, coexistence of atrial fibrillation may also result in left atrial dilatation. Scarring of the left ventricle increases as the disease progresses; also intramyocardial vessel thickening may result in left ventricle scarring, which can be grossly identified. In obstructive HCM, left ventricular outflow tract plaque is commonly observed grossly. Although myofibril disarray is observed in almost all cases of HCM, it can only be detected by histologic sectioning and staining following dehydration and embedding the ventricular septum from the heart in paraffin.

  3. 3.

    Which of the following is characteristic of apical HCM?

    1. A.

      Atrioventricular block

    2. B.

      Type III in echocardiographic Maron’s classification

    3. C.

      High prevalence in Japanese

    4. D.

      Basal septal thinning

    5. E.

      High prevalence in Caucasian

    Answer: C

    Comment: Apical HCM is a rare variant of HCM which shows hypertrophy predominantly in the left ventricular apex. Apical aneurysm and ventricular tachyarrhythmias are observed in several cases. Even though apical HCM constitutes 13–25% of all cases of HCM in Japan, it is much less often observed in non-Japanese populations. This rare variant is not mentioned in Maron’s original classification.

  4. 4.

    Which of the following is not a feature of HCM?

    1. A.

      Endocardial fibrosis on opposite site of the mitral posterior leaflet

    2. B.

      Left ventricular outflow tract plaque

    3. C.

      Subaortic stenosis

    4. D.

      Mitral valve elongation

    5. E.

      Enlargement of myocyte size

    Answer: A

    Comment: The frequency of a left ventricular outflow tract plaque is up to 73% in HCM patients. Furthermore, the frequency is 95% in patients with documented subaortic stenosis by catheterization. Endocardial fibrosis and mitral valve thickening and elongation are frequently observed; however, fibrosis of the ventricular septum in the LVOT is observed where the anterior leaflet hits the septum in systole. Enlargement of myocyte size is a typical finding on microscopic examination.

  5. 5.

    Which of the following is the least likely detected on histological examination of hearts with HCM?

    1. A.

      Hyperchromatic nuclei of myocyte

    2. B.

      Fibroblast disorganization

    3. C.

      Interstitial fibrosis

    4. D.

      Bizarre shape of mycytes

    5. E.

      Intramural coronary thickening

    Answer: B

    Comment: The characteristic histological features in HCM are the presence of marked myofiber disarray (also called myocyte disarray, myocardial disarray, and myocyte disorganization); myocyte hypertrophy, interstitial fibrosis, and intramural coronary artery thickening with severe narrowing have all been described in HCM hearts. Myocytes show hypertrophy with increase in transverse diameter, and the myocyte nuclei appear hyperchromatic and assume bizarre shapes. Fibroblast disorganization is not a feature of HCM.

  6. 6.

    Which of the following modalities is the most likely to detect mycardial fibrosis in HCM?

    1. A.

      Cardiac computed tomography

    2. B.

      Echocardiography

    3. C.

      Cardiac scintigraphy

    4. D.

      Left ventriculography

    5. E.

      Contrast-enhanced cardiac MRI

    Answer: E

    Comment: Delayed contrast-enhanced cardiac MRI is a well-recognized modality to detect areas of cardiac fibrosis in HCM. Several studies reported that the amount of fibrotic areas assessed by cardiac MRI can predict prognosis in patient with HCM.

  7. 7.

    Which of the following is a characteristic of late complication accompanying HCM?

    1. A.

      Mitral valve stenosis

    2. B.

      Pericardial calcification

    3. C.

      Thinning of ventricular basal septum

    4. D.

      Left ventricular dilation

    5. E.

      Aneurysmal coronary artery

    Answer: D

    Comment: Complications of hypertrophic cardiomyopathy are listed at Table 3.2. Left ventricular dilatation is a common manifestation of end-stage HCM which is accompanied by extensive myocardial fibrosis.

  8. 8.

    Which vessels in HCM demonstrate abnormal vascular wall thickening?

    1. A.

      Ascending aorta

    2. B.

      Epicardial coronary arteries

    3. C.

      Intramural coronary arteries

    4. D.

      Capillary vessel

    5. E.

      Coronary sinus

    Answer: C

    Comment: Intramural coronary artery thickening is present in the ventricular septum in 83% of HCM, and the location correlates well with areas of myofiber disarray. Intramural coronary artery thickening is more common in hearts with fibrosis than those without significant fibrosis.

  9. 9.

    Which of the following is not a characteristic of HCM when evaluated by echocardiography?

    1. A.

      Asymmetric hypertrophy

    2. B.

      Granular sparkling sign

    3. C.

      Ground-glass appearance

    4. D.

      Small ventricular cavity

    5. E.

      Systolic anterior motion

    Answer: B

    Comment: Echocardiographically, the hallmarks of HCM include left ventricular hypertrophy, a small ventricular cavity, systolic anterior motion of the anterior leaflet of the mitral valve, and a characteristic ground-glass appearance of the myocardium. Asymmetric hypertrophy is typical, occurring in 80–98% of cases. Granular sparkling sign is the typical feature of cardiac amyloidosis on echocardiography.

  10. 10.

    Which of the following is not a risk factor for SCD in HCM patients?

    1. A.

      Family history of sudden death due to HCM

    2. B.

      Hypertensive blood pressure response to exercise

    3. C.

      Unexplained recent syncope

    4. D.

      Left ventricular apical aneurysm and scarring

    5. E.

      Extensive and diffuse late gadolinium enhancement

    Answer: B

    Comment: Risk factors for SCD are listed in Table 3.6. Hypotensive or attenuated blood pressure response to exercise, mainly caused by the LVOT subaortic stenosis, is one of the risk factors of SCD in HCM.

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Sakamoto, A., Yahagi, K., Romero, M., Virmani, R. (2019). Pathology and Pathophysiology. In: Naidu, S. (eds) Hypertrophic Cardiomyopathy. Springer, Cham. https://doi.org/10.1007/978-3-319-92423-6_3

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