Diagnostic dilemma in a patient with LVH and heart failure. Is it Amyloid Heart Disease, Cardiac Sarcoidosis, or HCM? (QF_SA_137)

Saturday, February 1, 2025

8:40 AM – 8:50 AM East Coast USA Time

Location: Blue Room PreFunction

Presenting Author(s)

LD

Lorena Doctor, MD

Advanced Cardiac Imaging Fellow
Rutgers Robert Wood Johnson Medical School

Primary Author(s)

LD

Lorena Doctor, MD

Advanced Cardiac Imaging Fellow
Rutgers Robert Wood Johnson Medical School

Co-Author(s)

SB

Sabahat Bokhari, MD

Professor of Cardiology/Director of Advanced Cardiac Imaging
Rutgers Robert Wood Johnson Medical School
YH

Yasmin Hamirani, MD

Associate Professor of Medicine/Director of Structural Imaging
Rutgers Robert Wood Johnson Medical School
AM

Aliaa Mousa, MD

Advanced cardiovascular imaging
Rutgers/ Robert Wood Johnson University Hospital/ New Brunswick NJ
KM

Kameswari Magneti, MD

Section Chief, Director Proessor of Medicine Non-Invasive Cardiology Echocardiography Lab
Rutgers Robert Wood Johnson Medical School
AM

Anthony Mendoza, MD

Advanced cardiovascular imaging attending
Rutgers/Robert wood johnson University Hospital/ New brunswick NJ
PS

Partho Sangupta, MD

Professor of Cardiology/Chief of Cardiology
Rutgers Robert Wood Johnson Medical School

Description of Clinical Presentation: 50 yo male with h/o HTN, DM Type I, CKD, hyperlipidemia, CVA, family history of dilated cardiomyopathy in his son and BMI of 22.80 kg/m2 presented with SOB, and palpitations. Patient had frequent hospitalizations over the past 3 years with heart failure symptoms and persistently elevated troponin T-HS levels. Holter monitor revealed frequent symptomatic PVCs (presyncope) with runs of NSVT.

Diagnostic Techniques and Their Most Important Findings:

EKG: NSR with PVC. Low voltage QRS. Possible LAE. Nonspecific ST/T abnormality.

TTE: LV size normal. Moderate asymmetric septal hypertrophy >12 mm, LVEF:50-55%. No LVOT obstruction. Restrictive LV filling pattern. Moderate to severe pulmonary HTN and moderate bi-atrial enlargement. No exercise induced LV cavity gradients noted on stress echo.

Cardiac MRI confirmed TTE findings. The septal thickness was measured to be 18 mm. On LGE images >15% enhancement noted (FWHM). Multifocal subepicardial to mid wall enhancement involving proximal anterior wall, proximal to distal septum, mid cavity inferior wall. Transmural enhancement in mid inferior and mid lateral wall involving both hypertrophied and nonhypertrophied myocardium, extends to the distal right ventricular wall distal RV insertion on the septum. Biatrial enhancement was seen. Overall findings suggestive mostly of HCM. However, some features of amyloid were noted. Genetic test +TNNT2 mutation.

Serum and urine immunofixation negative for monoclonal proteins. Free light chains assay was normal along with negative Tc99 PYP scan.

FDG PET: No cardiac FDG uptake noted.

Based on above data, a final diagnosis of hypertrophied cardiomyopathy was made. Patient referred for ICD implantation for primary prevention of SCD.

Learning Points from this Case:

Multimodality imaging suggested a differential diagnosis of Amyloid heart disease, Sarcoidosis, and Hypertrophic Cardiomyopathy. EKG findings of low voltage, concentric LVH, restrictive DCM, DGE, and preserved EF all suggested Amyloid Heart Disease. Presyncope and arrhythmia (NSVT) both c/w Amyloid heart disease, Cardiac amyloidosis, and HCM. Serum biomarkers, EKG findings, and Echo findings were all suggestive of restrictive cardiomyopathy. Technetium 99 PYP not suggestive of cardiac amyloidosis. Cardiac PET Metabolic SCAN not suggestive of Sarcoidosis. TNNT2+, HCM diagnosed.

Amyloid heart disease is often misdiagnosed as hypertensive heart disease and hypertrophic cardiomyopathy

MRI was instrumental in making final diagnosis and decision for ICD placement