MioAtlas
G5: Cardiomyopathies

Restrictive cardiomyopathy (amyloidosis)

Infiltrative restrictive cardiomyopathy caused by progressive extracellular deposition of insoluble amyloid fibrils (AL light chain or ATTRm/ATTRwt transthyretin) in biventricular and atrial myocardial interstitium.

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Definition

Infiltrative restrictive cardiomyopathy caused by progressive extracellular deposition of insoluble amyloid fibrils (AL light chain or ATTRm/ATTRwt transthyretin) in biventricular and atrial myocardial interstitium, causing massive increase in ventricular wall stiffness, severe restrictive diastolic dysfunction, non-dilated or small ventricular cavities, marked biatrial enlargement, and classic dissociation between wall thickening and low electrocardiographic voltage [C1] [G5-05] [G5-06].

Severity criteria

  • Ventricular wall thickening: End-diastolic interventricular septal or posterior wall thickness ≥ 12 mm (typically 12–18 mm) in the absence of hypertensive or valvular overload justifying it [C1] [G5-05] [G5-06].
  • Doppler restrictive filling pattern: Transmitral E/A velocity ratio > 2.0, E-wave deceleration time (EDT) < 150 ms, and severely depressed annular tissue diastolic velocities (e' < 5 cm/s, E/e' > 15) [G5-05] [G5-06].
  • Electrocardiographic low voltage criteria: QRS amplitude < 5 mm (0.5 mV) in all limb leads or Sokolow-Lyon index < 15 mm in precordial leads, with voltage-to-mass mismatch (markedly reduced voltage-to-mass ratio) [G5-05] [G5-06] [E1].
  • Biventricular filling pressures: Mean pulmonary capillary wedge pressure > 18–20 mmHg and right atrial pressure > 12–15 mmHg with 'square root' (dip and plateau) morphology on ventricular diastolic pressure curves [M5] [G5-06].
  • Ventricular volume: Normal or small LV end-diastolic volume (< 100–120 mL) [C1] [G5-05].

Findings by layer

Hemodynamics

  • Atrial and pulmonary capillary pressures (mean pulmonary capillary wedge pressure, mean right atrial pressure): Severely elevated (> 15–20 mmHg) with diastolic equalization of right and left pressures [G5-05] [G5-06].
  • LV ejection fraction (left ventricular ejection fraction): Initially preserved (50–60%) with low stroke volume due to restricted filling; depresses in very advanced stages [G5-05].
  • Diastolic pressure morphology: 'Square root' pattern (dip and plateau) on invasive ventricular pressure tracings [M5] [G5-06].

Rhythm

  • Normal sinus rhythm, frequently associated with loss of effective mechanical atrial contractile function (atrial electromechanical dissociation / standstill) [G5-05] [G5-06].
  • Atrial fibrillation as a common supraventricular arrhythmia due to atrial amyloid infiltration and biatrial dilation [C1] [G5-05].
  • Atrioventricular conduction disturbances (1st degree AV block or fascicular block) [E2] [G5-05].

ECG

  • Diffuse peripheral low voltage: QRS amplitude < 5 mm in leads I, II, III, aVR, aVL, and aVF [G5-05] [G5-06] [E1].
  • Pseudoinfarction pattern (pseudoinfarct Q waves): Pathological Q waves or QS complexes in anteroseptal precordial leads (V1–V3) or inferior leads (II, III, aVF) in the absence of ischemic heart disease or transmural necrosis [G5-05] [G5-06].
  • Non-specific intraventricular conduction delay [E2] [G5-05].

Heart sounds and murmurs

  • Third heart sound (S3): Crisp protodiastolic gallop (restrictive sound) auscultated with bell in mesocardium and apex due to abrupt impact of transmitral flow against a stiff, unyielding myocardial wall [G1-12] [G5-06].
  • Characteristic absence of fourth heart sound (S4): Despite the stiff ventricle, S4 is typically not heard or absent due to mechanical contractile paralysis of the infiltrated atrium (atrial standstill) or presence of AF [G5-05] [G5-06].
  • Muffled heart sounds: S1 and S2 decreased in intensity due to tissue interposition/infiltration [G1-10] [G5-06].
  • Atrioventricular regurgitation murmurs: Soft apical holosystolic murmur of mitral regurgitation and tricuspid murmur due to valvular infiltration [G1-14] [G5-05].

Arterial pulse

  • Reduced-amplitude arterial pulse (pulsus parvus) due to low systolic stroke volume [B4] [G5-06].

Jugular venous pulse

  • Markedly elevated jugular venous pressure with Kussmaul sign (lack of inspiratory decline or paradoxical rise in JVP during inspiration) [B3] [G5-06].
  • Venous morphology with prominent 'a' wave (if atrial systole persists) and a deep, rapid, abrupt 'y' descent (steep y descent / rapid diastolic collapse), followed by a rapid diastolic plateau [B3] [G5-06].

Maneuvers

  • Inspiration: Paradoxical increase or failure of jugular distention to fall (positive Kussmaul sign) due to inability of the rigid right ventricle to accommodate increased venous return [B3] [G5-06].

Simulator severity grades

Simulator severity grades: Single grade
Baseline rhythm: Normal Sinus Rhythm

Also known as: Cardiac amyloidosis · Amyloid cardiomyopathy · Restrictive amyloid cardiomyopathy · ATTR cardiomyopathy · AL amyloidosis

Other pathologies in this group

Related clinical comparisons

Sources

  1. [B3] The jugular venous pressure revisited . Cleve Clin J Med (2013) . DOI: 10.3949/ccjm.80a.13039 PubMed: 24085809
  2. [B4] The Carotid Pulse . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250154
  3. [C1] 2023 ESC Guidelines for the management of cardiomyopathies . Eur Heart J (2023) . DOI: 10.1093/eurheartj/ehad194 PubMed: 37622657
  4. [E1] AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part V: electrocardiogram changes associated with cardiac chamber hypertrophy: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology . Circulation (2009) . DOI: 10.1161/CIRCULATIONAHA.108.191097 PubMed: 19228820
  5. [E2] AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology . Circulation (2009) . DOI: 10.1161/CIRCULATIONAHA.108.191095 PubMed: 19228822
  6. [G1-10] The First Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250175
  7. [G1-12] The Third Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250184
  8. [G1-14] Systolic Murmurs . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250186
  9. [G5-05] Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases . Eur Heart J (2021) . DOI: 10.1093/eurheartj/ehab072 PubMed: 33825853
  10. [G5-06] Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association . Circulation (2020) . DOI: 10.1161/CIR.0000000000000792 PubMed: 32476490
  11. [M5] Pericardial disease . Circulation (2006) . DOI: 10.1161/CIRCULATIONAHA.105.561514 PubMed: 16567581