Pulmonary heart disease, cardiomyopathy, Marfan's syndrome Flashcards Preview

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Differentiate pulmonary hypertension (PH) and pulmonary arterial hypertension (PAH)

Pulmonary hypertension (PH) is defined as mean pulmonary artery pressure >25mmHg. Most frequently this is due to heart failure or lung diseases. Pulmonary arterial hypertension (PAH) is a sub-group of PH caused by narrowing of pulmonary vessels. It occurs in isolation and is very rare.


List 3 symptoms of pulmonary arterial hypertension (PAH)

Dyspnoea Fatigue Weakness Angina Syncope Abdominal distension


List 3 signs of pulmonary arterial hypertension (PAH)

Left parasternal heave: right heart hypertrophy Loud P2 heart sound Soft pansystolic murmur: tricuspid regurgitation Early diastolic murmur: pulmonary regurgitation Right heart failure: JVP distension, ascites, peripheral oedema, and hepatomegaly


Define cardiomyopathies

A group of diseases of the myocardium that affect the mechanical or electrical function of the heart.


Classify the types of cardiomyopathies

Hypertrophic cardiomyopathy (HCM) Arrhythmogenic cardiomyopathies (ACs) Dilated cardiomyopathy (DCM) Secondary cardiomyopathies


Name 3 causes of secondary cardiomyopathy

Infiltrative: amyloidosis, Gaucher's disease Storage-related: haemochromatosis Drugs: alcohol (esp dilated), cancer therapy Inflammatory: sarcoidosis Autoimmune: SLE


Define hypertrophic cardiomyopathy

A group of inherited conditions that produce variable hypertrophy of the myocardium that frequently involves the interventricular septum asymmetrically. HCM occurs in the absence of alternative cause (e.g. aortic stenosis or HTN).


Describe the inheritance pattern of hypertrophic cardiomyopathy

Majority are familial autosomal dominant


List the symptoms of hypertrophic cardiomyopathy

Symptoms: many asymptomatic Chest pain Dyspnoea Syncope/Pre-syncope: typically with exertion Cardiac arrhythmias Sudden death*: commonest cause of sudden cardiac death in young people (up to 6%)


List 3 signs of hypertrophic cardiomyopathy

4th heart sound: atrial contraction Jerky carotid pulse: rapid ejection and sudden obstruction in systole Ejection systolic murmur: late in systole Pansystolic murmur: mitral regurgitation Irregular pulse: AF


How is hypertrophic cardiomyopathy investigated?

ECG: LV hypertrophy, ST- and T-wave changes, Q waves Echo*(usually diagnostic): asymmetrical LV hypertrophy of interventricular septum, systolic anterior movement of mitral valve, vigorously contracting LV Genetic analysis: confirm diagnosis and provide prognostic information.


What is the prevalence of HCM?

1 in 500 people Commonest cause of sudden cardiac death in young


Describe the pathophysiology of hypertrophic cardiomyopathy

25% have dynamic left ventricular outflow tract (LVOT) obstruction due to combined effects of hypertrophy, systolic anterior motion of anterior mitral valve leaflet, and rapid ventricular ejection. Abnormal intramural coronary arteries, causes anginal chest pain. Chaotic disorganised LV architecture predisposes to arrhythmias.


Outline the management of hypertrophic cardiomyopathy

Treatment of symptoms -Chest pain and dyspnoea: Beta-blockers and CCB -Dual chamber pacing -Surgical resection of septal myocardium Prevention of sudden death -Amiodarone -ICD insertion: if 2+ risk factors of sudden cardiac death


Name 3 risk factors for sudden cardiac death

Massive LV hypertrophy (>30mm) FHx of sudden cardiac death (<50yr) Non-sustained VT on 24h Holter Prior unexplained syncope Abnormal BP response to exercise


Name 5 causes of sudden cardiac death

Coronary artery disease -STEMI -Chronic ischaemic heart disease -Following coronary artery bypass -After resuscitation for cardiac arrest -Congenital anomaly of coronary arteries -Coronary arteritis Non-coronary artery disease -Hypertrophic cardiomyopathy -Dilated cardiomyopathy -Arrhythmogenic RV cardiomyopathy -Congenital long QT syndrome -Brugada syndrome -Valvular heart disease +/- infective endocarditis -Cyanotic heart disease: Tetralogy of Fallot, transposition -Acyanotic heart disease: VSD, PDA


Define arrhythmogenic cardiomyopathy

Uncommon (1 in 1000-5000) inherited condition that predominantly affects the RV with fatty/fibro-fatty replacement of myocytes, leading to dilatation.


How can arrhythmogenic cardiomyopathy present?

Asymptomatic Symptomatic ventricular arrhythmia Syncope Sudden cardiac death RV failure occurs in late stages


How is arrhythmogenic cardiomyopathy treated?

Amiodarone or sotalol ICD Cardiac transplant


Define dilated cardiomyopathy

Dilatation of ventricles with systolic dysfunction, despite preserved wall thickness. Rare: 7-12 in 100,000 Seen more commonly with alcoholics


Describe the presentation of dilated cardiomyopathy

Heart failure Cardiac arrhythmias Conduction defects Thromboembolism Sudden death


How is dilated cardiomyopathy treated?

Heart failure treatment If NYHA III/IV: cardiac resync (pacemaker) or ICD


What is the inheritance pattern of Marfan's syndrome?

Autosomal dominant


Define Marfan's syndrome

An autosomal dominant connective tissue disorder that affects the heart, eyes, and skeleton. Requires 2 of 3 major systems to be involved.


What is the cause of Marfan's syndrome?

Mis-sense mutations in gene encoding for fibrillin 1. 2/3 due to familial transmission 1/3 due to sporadic mutations


How is a diagnosis of Marfan's syndrome confirmed?

Studying family linkage to causative gene, or Demonstrating mutation in Fibrillin 1 gene


Describe the clinical features of Marfan's syndrome

Cardiac: -Aortic aneurysm, dissection, regurgitation -Mitral valve prolapse and regurgitation: systolic murmur Eye: -Lens dislocation, retinal detachment, glaucoma Skeleton: -Pectus excavatum or carinatum -Long arms and legs, arachnodactyly, scoliosis Lungs: -Spontaneous pneumothorax, apical blebs


How should Marfan's syndrome be investigated?

Echocardiogram: repeated annually CMR or CT: show entire aorta for monitoring Ambulatory ECG monitoring if symptomatic


Outline the non-pharmacological management of Marfan's syndrome

Genetic counselling Psychological support: chronic inheritable disease Advise to avoid over-exertion: fatal aortic dissection Avoid weightlifting, scuba diving, gymnastics


Outline the medical management of Marfan's syndrome

Beta-blockers: slows aortic dilatation ACEi: slows aortic dilatation