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Table 2 Diagnostic tests results during last hospital admission

From: Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene

Test/Procedure

Findings

12-lead electrocardiogram

• Dual chamber AV-sequential paced rhythm

• Left bundle branch QRS morphology

• Isolated premature ventricular contractions

Transthoracic echocardiogram

• Normal left ventricular size

• Mildly depressed left ventricular function

• Moderately to severely enlarged RV

• Normally functioning prosthetic aortic and mitral valves

• Estimated pulmonary artery systolic pressure > 40 mmHg

Trans-Esophageal echocardiogram

• Dilated tricuspid annulus (4.2 cm)

• Non-coapting tricuspid valve leaflets

• Severe tricuspid regurgitation

• Enlarged right atrium

Adenosine myocardial perfusion tomography

• Left ventricular ejection fraction: 49%

• Moderately hypokinetic left ventricle

• Perfusion defect: 17%

• Fixed perfusion defect: 6%

• Reversible perfusion defect 11% in the left anterior descending coronary territory

Right heart catheterization

• Right atrial pressure: 17 mmHg

• Right ventricular pressure: 44/3 mmHg (mean 22)

• Pulmonary capillary wedge pressure: 20 mmHg

• Cardiac output: 4.6 L/min (Cardiac index: 3.0 L/min/m2)

Carotid Doppler

• Less than 50% stenosis in both carotids

Endomyocardial biopsy (right ventricle)

• Hypertrophic cardiac fibers

• Enlarged myocyte nuclei

• Negative for amyloid (Congo stain)

• No evidence of myocarditis