CARDIOMYOPATHIES

Petros Nihoyannopoulos, MD, FRCP, FESC, FACC

Professor of Cardiology
Cardiology Department, NHLI, Hammersmith Hospital,
Imperial College London,
London, W12, ONN, UK

INTRODUCTION

Cardiomyopathies are primary heart muscle diseases of genetic origin. A number of other
pathologies may manifest via similar phenotypes (measurable characteristics) or be due to
secondary causes. These latter pathologies of more readily identifiable causes should be
called by their specific names. Cardiomyopathies are divided in four categories depending on
morphologic and functional characteristics:
1. Hypertrophic
2. Dilated
3. Restrictive
4. Arhythmogenic right ventricular cardiomyopathy or ARVC (dysplasia).
This classification is based on the morphologic and functional characterization alike, of
genetically defined diseases and often may present with a combination of or serial changes in
appearances. It is therefore possible that a patient with hypertrophic cardiomyopathy may
deteriorate in the long-run and become dilated or even restrictive. Therefore while this
classification is helpful, it does not always “identify” the genetic origin of the condition.

1. HYPERTROPHIC CARDIOMYOPATHY (HCM)

HCM is currently defined as an inherited, primary disease of the heart muscle

characterised by ventricular hypertrophy, impaired diastolic function and increased
ventricular contraction in the absence of a cardiac or systemic cause (1-5). There are several
genes and hundreds of mutations that have been identified, involving primarily the
sarcomeric proteins of the heart. This makes the condition being genetically heterogeneous
so that we could be talking about several disease entities.
The gross pathology of HCM is characterised by ventricular hypertrophy involving
predominantly the left ventricle but also the right ventricle in some 20% of patients. The
hypertrophy can be either asymmetrical, that is, a significant difference in maximal thickness
of ventricular septum and posterior wall (ASH), or concentric equally involving the left
ventricle, or distal, affecting predominantly the cardiac apex. The transmission of the disease
is by autosomal dominant inheritance with variable penetrance. The hypertrophy mostly
becomes manifest during puberty (6), although some cases of HCM are seen in infancy (7)
and some late onset HCM has been identified in the elderly.
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The functional abnormalities are:
1. A powerful, over-active ventricular contraction with an ejection fraction of more than
70%.
2. The presence of an outflow tract gradient in some 50% of patients. This is usually
associated with a systolic anterior movement of the mitral valve.
3. Impaired diastolic function with typically a dilated left atrium (8).
The clinical findings of dyspnoea, chest pain, dizziness or syncope are the most frequent
symptoms that lead to a discovery of HCM but they are present in only half of the patients. In
the remainder, the diagnosis is incidental as a result of family screening or following the
discovery of a murmur, or an abnormal ECG.
The most dreaded symptom is sudden cardiac death. In a large study Maron (9) showed that
46% of patients who died suddenly were entirely asymptomatic and sudden death was the
first manifestation of the disease. The annual mortality rate from sudden death is 2.5% in
adults and at least 6-7% in children (10-12).

THE ROLE OF ECHOCARDIOGRAPHY

The diagnosis of HCM is made on the basis of the echocardiographic appearance of left
ventricular hypertrophy and a dilated left atrium. Echocardiography however should play a
supportive role to the clinical diagnosis, as the diagnosis requires the exclusion of other
causes of left ventricular hypertrophy.
The early Echocardiographic criteria of HCM was made using M-mode but this lacks spatial
resolution so that only a very small section of the left ventricle could be examined with the
single ultrasound beam, passing only through the anterior septum and posterior walls.
Patients with HCM however may show a wide distribution of hypertrophy (13) best
appreciated with two-dimensional echocardiography.
The initial beliefs that ASH, SAM and mid-systolic closure of the aortic valve were
pathognomonic of HCM, are not substantiated, as each can also occur in a variety of other
conditions with no common pathophysiologic mechanism (14-19). The presence of ASH or a
gradient is not a prerequisite for the diagnosis of HCM. Systemic hypertension, athlete's
heart or even aortic stenosis can cause the ventricular septum to appear thicker than the left
ventricular free wall and conversely, in many patients with HCM the septum and the free
wall may be of similar thickness (concentric hypertrophy) or even only mildly hypertrophied.