What are the symptoms of cardiomyopathy in patients with varying demographics and medical histories, including older adults, younger adults, athletes, and those with pre-existing conditions such as hypertension (high blood pressure) or diabetes?

Symptoms of Cardiomyopathy

Cardiomyopathy presents with a constellation of heart failure symptoms including dyspnea, fatigue, chest pain, palpitations, and syncope, though many patients remain asymptomatic until disease progression occurs. 1

Core Symptom Profile

The most characteristic symptoms across all cardiomyopathy types include:

• Dyspnea (shortness of breath) - occurs both at rest and with exertion, reported in 89% of patients with hypertrophic cardiomyopathy (HCM) 2
• Fatigue and tiredness - present in 89% of HCM patients, representing one of the most frequent complaints 2
• Chest pain (angina) - occurs in 70% of HCM patients, both at rest and with physical exertion, caused by microvascular dysfunction, increased left ventricular wall stress, and myocardial ischemia 3, 2
• Palpitations - reported in 81% of HCM patients, reflecting underlying arrhythmias 2
• Dizziness and lightheadedness - present in 89% of HCM patients 2

Additional Common Presentations

Beyond the core symptoms, patients frequently experience:

• Syncope - particularly concerning in younger patients, caused by ventricular tachycardia, complete heart block, sinus node dysfunction, or abnormal vascular reflexes 1, 3
• Orthopnea and paroxysmal nocturnal dyspnea - classic heart failure symptoms indicating fluid overload 1, 4
• Peripheral edema and ascites - reflecting systemic congestion 1
• Cough - associated with pulmonary congestion 4

Asymptomatic Presentation

A critical caveat: many patients with cardiomyopathy remain completely asymptomatic and are identified only incidentally through family screening, abnormal electrocardiograms, heart murmurs detected on physical examination, or echocardiography performed for other indications. 1, 3

• Most affected individuals with HCM achieve normal life expectancy without disability or major therapeutic interventions 1
• Asymptomatic patients may only show electrocardiographic abnormalities without functional limitations 3

Variation by Cardiomyopathy Type

Hypertrophic Cardiomyopathy (HCM)

• Exertional dyspnea and chest pain are predominant, particularly in obstructive forms 1
• Systolic murmur (harsh crescendo-decrescendo) best heard over lower left sternal border, intensified by Valsalva maneuver or standing from squatting 1
• Prominent apical point of maximal impulse, often bifid or trifid 1
• Fourth heart sound (S4) from noncompliant left ventricle 1
• Pulsus bisferiens (double carotid pulsation) may be present 1

Dilated Cardiomyopathy (DCM)

• Progressive exertional dyspnea is the hallmark symptom 1
• Symptoms of global heart failure with both left and right ventricular involvement 5
• Arrhythmias and thromboembolic events are common complications 6

Restrictive/Infiltrative Cardiomyopathy

• Severe diastolic dysfunction leading to restrictive physiology 1
• Rapid progression to advanced heart failure symptoms 3

Age-Specific Considerations

Younger Adults and Athletes

• Sudden cardiac death may be the first manifestation, particularly in asymptomatic patients ≤35 years with HCM 1
• Syncope during or immediately after exertion is especially concerning 1
• Competitive athletes may experience symptoms only during intense physical activity 1

Older Adults

• Higher prevalence of heart failure symptoms, with 10-20% of 70-80 year-olds affected 1
• More likely to have heart failure with preserved ejection fraction (HFPEF) 1
• Exertional dyspnea and fatigue are more prominent in older children, adolescents, and adults with symptomatic disease 3

Impact of Comorbidities

Hypertension

• Exacerbates diastolic dysfunction and heart failure symptoms 1
• Must be distinguished from hypertensive heart disease as an alternative cause of left ventricular hypertrophy 1

Diabetes Mellitus

• Diabetic patients with HCM have significantly worse functional capacity and more severe heart failure symptoms 7
• Higher New York Heart Association (NYHA) class and lower exercise capacity (7.0 vs 9.0 METS) 7
• Increased prevalence of diastolic dysfunction, pulmonary hypertension, and significant mitral regurgitation 7
• Higher 15-year mortality (22% vs 15%) compared to non-diabetic HCM patients 7

Life-Threatening Complications

Three discrete pathways of clinical progression exist when complications develop 1:

1. Sudden cardiac death from ventricular tachyarrhythmias, most commonly in asymptomatic patients ≤35 years, including competitive athletes 1
2. Progressive heart failure characterized by exertional dyspnea with or without chest pain 1
3. Atrial fibrillation with associated heart failure and increased risk of systemic thromboembolism and stroke 1

Critical Diagnostic Pitfalls

• Physical examination findings may be completely normal in patients without left ventricular outflow tract obstruction 1
• Symptoms are often nonspecific, with tiredness and fatigue having multiple potential causes 1
• Accuracy of heart failure diagnosis by clinical means alone is inadequate, particularly in women, elderly, and obese patients 1
• Transthoracic echocardiography may miss apical hypertrophy due to poor acoustic windows, requiring cardiac MRI for definitive diagnosis 3
• Signals from skeletal muscle are often interpreted by the brain as breathlessness or fatigue, explaining why response to treatment may be slow 1