Pulmonary heart disease, cardiomyopathy, Marfan's syndrome

Question 1

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

Answer 1

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.

Question 2

List 3 symptoms of pulmonary arterial hypertension (PAH)

Answer 2

Dyspnoea Fatigue Weakness Angina Syncope Abdominal distension

Question 3

List 3 signs of pulmonary arterial hypertension (PAH)

Answer 3

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

Question 4

Define cardiomyopathies

Answer 4

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

Question 5

Classify the types of cardiomyopathies

Answer 5

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

Question 6

Name 3 causes of secondary cardiomyopathy

Answer 6

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

Question 7

Define hypertrophic cardiomyopathy

Answer 7

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).

Question 8

Describe the inheritance pattern of hypertrophic cardiomyopathy

Answer 8

Majority are familial autosomal dominant

Question 9

List the symptoms of hypertrophic cardiomyopathy

Answer 9

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%)

Question 10

List 3 signs of hypertrophic cardiomyopathy

Answer 10

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

Question 11

How is hypertrophic cardiomyopathy investigated?

Answer 11

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.

Question 12

What is the prevalence of HCM?

Answer 12

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

Question 13

Describe the pathophysiology of hypertrophic cardiomyopathy

Answer 13

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.

Question 14

Outline the management of hypertrophic cardiomyopathy

Answer 14

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

Question 15

Name 3 risk factors for sudden cardiac death

Answer 15

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

Question 16

Name 5 causes of sudden cardiac death

Answer 16

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

Question 17

Define arrhythmogenic cardiomyopathy

Answer 17

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

Question 18

How can arrhythmogenic cardiomyopathy present?

Answer 18

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

Question 19

How is arrhythmogenic cardiomyopathy treated?

Answer 19

Amiodarone or sotalol ICD Cardiac transplant

Question 20

Define dilated cardiomyopathy

Answer 20

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

Question 21

Describe the presentation of dilated cardiomyopathy

Answer 21

Heart failure Cardiac arrhythmias Conduction defects Thromboembolism Sudden death

Question 22

How is dilated cardiomyopathy treated?

Answer 22

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

Question 23

What is the inheritance pattern of Marfan’s syndrome?

Answer 23

Autosomal dominant

Question 24

Define Marfan’s syndrome

Answer 24

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

Question 25

What is the cause of Marfan’s syndrome?

Answer 25

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

Question 26

How is a diagnosis of Marfan’s syndrome confirmed?

Answer 26

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

Question 27

Describe the clinical features of Marfan’s syndrome

Answer 27

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

Question 28

How should Marfan’s syndrome be investigated?

Answer 28

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

Question 29

Outline the non-pharmacological management of Marfan’s syndrome

Answer 29

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

Question 30

Outline the medical management of Marfan’s syndrome

Answer 30

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

Question 31

What is the surgical management of Marfan’s syndrome?

Answer 31

Aortic root graft replacement*