|Ahead of print publication
Sarita Gore, Sunil Yogiraj Swami
Department of Pathology, SRTR Government Medical College, Beed, Maharashtra, India
|Date of Submission||18-Oct-2019|
|Date of Decision||29-Nov-2019|
|Date of Acceptance||03-Mar-2020|
Sunil Yogiraj Swami,
Bhagwanbaba Chowk, Gitta Road, Shepwadi, Ambajogai, Beed - 431 517, Maharashtra
Source of Support: None, Conflict of Interest: None
Hypertrophic cardiomyopathy (HCM) is a primary disease affecting the cardiac muscle and is characterized by heterogeneous genetic, morphological, functional and clinical features. The clinical presentation of HCM varies widely. Patients may be completely asymptomatic and identified incidentally. Atrial fibrillation is present in nearly 1 of 5 patients accompanied by significant risk of stroke. Symptoms of HCM are most commonly exertional dyspnoea, chest pain, fatigue, and pre-syncope or syncope. A small subset of patients will experience sudden cardiac death. Here we present a case of hypertrophic cardiomyopathy in 38 years old male died of sudden cardiac death.
Keywords: Cardiomyopathy, hypertrophic, myocardium
| Introduction|| |
Hypertrophic cardiomyopathy (HCM) is a primary disease affecting the cardiac muscle and is characterized by heterogeneous genetic, morphological, functional, and clinical features.
Nevertheless, most genetically and clinically affected individuals probably remain undiagnosed, largely free from disease-related complications; although, HCM may progress along 1 or more of its major disease pathways, i.e., arrhythmic sudden death risk; progressive heart failure (HF) due to dynamic left ventricular (LV) outflow obstruction or due to systolic dysfunction in the absence of obstruction; or atrial fibrillation with the risk of stroke.
Here, we present a case of HCM in 38-year--old male died of sudden cardiac death.
| Case Report|| |
A 38-years-old male brought by relatives in an unconscious state was declared dead on arriving at the hospital. Autopsy performed revealed [Figure 1] his heart of size 13 cm × 10 cm × 8 cm with the right ventricular wall thickness of 6 mm, LV wall 19 mm, and interventricular septum 14 mm, respectively. Microscopy [Figure 2] and [Figure 3] revealed features of HCM in the form of myocardial fibers disarray, i.e., cardiac myocytes were haphazardly arranged forming Y, U, V, shapes/forms separated by interstitial fibrous tissue.
|Figure 1: Gross: Heart of size: 13 cm × 10 cm × 08 cm; Left ventricular thickness of size: 1.9 cm|
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|Figure 2: Section shows hypertrophy and disarray of cardiac myocytes as well as interstitial fibrosis (H and E: ×10)|
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|Figure 3: Section shows hypertrophy and disarray of cardiac myocytes as well as interstitial fibrosis (H and E: ×40)|
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| Discussion|| |
The clinical presentation of HCM varies widely. Patients may be completely asymptomatic and identified incidentally. Symptoms of HCM are the most commonly exertional dyspnea, chest pain, fatigue, and presyncope or syncope. Atrial fibrillation is present in nearly 1 of 5 patients accompanied by a significant risk of stroke.
HCM is a diagnosis of exclusion. Secondary causes of LV hypertrophy (LVH) such as systemic hypertension, valvular and subvalvular aortic stenosis, and infiltrative cardiomyopathies must be ruled out. A wall thickness of >15 mm by echocardiography, computed tomography, or cardiac magnetic resonance in the absence of a secondary cause is consistent with HCM.
HCM is a genetic disorder with autosomal dominant form of inheritance. Mutations in one of several genes cause familial HCM. LVH is the most characteristic feature of HCM. LVH is classically described as asymmetric and commonly the interventricular septum is affected; hence, the term asymmetric septal hypertrophy.
HCM is a disorder without distinct geographic, ethnic, or sex pattern of distribution. The prevalence of HCM estimated is 0.16%–0.29%. Myocardial hypertrophy mimicking HCM also occurs in patients with Fabry disease, glycogen storage diseases, mitochondrial diseases, and triplet repeat syndromes. Genetic testing, when positive, is helpful in the distinction between HCM and such phenocopy conditions. Endomyocardial biopsy and specific histological examination may identify phenocopy conditions, while the presence of myocyte disarray supports the diagnosis of HCM. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis.
| Conclusion|| |
The clinical presentation of HCM varies widely. The patient may be completely asymptomatic and identified incidentally. Sudden cardiac death is infrequent in HCM (<1%).
Most genetically and clinically affected individuals remain undiagnosed, largely free from disease-related complications, although may progress through one or more of its major disease pathways, i.e., arrhythmic sudden death risk, progressive HF due to LV outflow tract obstruction or due to systolic dysfunction, or atrial fibrillation with the risk of stroke.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]