Amyloidoza łańcuchów lekkich immunoglobulin z punktu widzenia kardiologa

Light-chain amyloidosis (amyloidosis AL) is diagnosed in approx. 70% of patients with cardiac amyloidosis. This type of amyloidosis has the worst prognosis, especially if the diagnosis is made in advanced stages. The majority of patients are referred to a cardiologist, but unfortunately only every fifth of them has the proper diagnosis. Therefore, strategies promoting early diagnosis are important. One of them is the measurement of serum free light chains concentration in every patient with heart failure with preserved ejection fraction. The acknowledgement of free light chains (FLCs) cardiotoxicity rendered the picture of AL amyloidosis from infiltrative cardiomyopathy into a toxic one. Best improvement in regard to heart failure is achieved upon hematological treatment resulting in decrease of FLCs concentration. Therefore, cardiological treatment is rather a supportive therapy. The role of cardiologist is the rapid diagnosis of the disease and referral of the patient to the hematologist. The standard heart failure treatment encompassing use of beta-blockers and angiotensin converting enzyme inhibitors aggravates orthostatic hypotension and congestion. Instead, up-to-date hematological treatment improves the prognosis of AL amyloidosis markedly, as long as early diagnosis is made.Amyloidozę łańcuchów lekkich (amyloidozę AL) rozpoznaje się u około 70% pacjentów z amyloidozą serca. Ta postać choroby wiąże się z najgorszym rokowaniem, szczególnie jeśli wykrywa się ją na zaawansowanym etapie. Kardiolog jest najczęściej odwiedzanym specjalistą przez pacjentów z amyloidozą AL. Niestety tylko u co piątego pacjenta jest stawiana właściwa diagnoza. Dlatego ważne jest, aby promować działania umożliwiające wczesne stwierdzenie choroby. Należy do nich oznaczanie wolnych łańcuchów lekkich (FLC) w surowicy u pacjentów z niewydolnością sercaz zachowaną frakcją wyrzutową. Wykazanie kardiotoksycznej roli FLC zmieniło postrzeganie amyloidozy AL jako choroby polegającej wyłącznie na pozakomórkowym gromadzeniu się nieprawidłowych złogów białkowych. Największą poprawę funkcji serca uzyskuje się, obniżając stężenie FLC w surowicy poprzez leczenie cytoredukcyjne. Leczenie kardiologiczne ma znaczenie uzupełniające. Rola kardiologa sprowadza się do jak najszybszego rozpoznania choroby i przekazania pacjenta do hematologa. Standardowa farmakoterapia niewydolności serca, obejmująca beta-adrenolityki i inhibitory konwertazy angiotensyny, u pacjentów z amyloidozą wywołuje nasilenie hipotensji ortostatycznej i objawów zastoinowych. Natomiast dzięki nowoczesnemu leczeniu cytoredukcyjnemu i antyamyloidowemu istotnie poprawiły się wyniki leczenia, pod warunkiem wczesnego rozpoznania amyloidozy AL

Impact of Cardiac Magnetic Resonance on the Diagnosis of Left Ventricular Noncompaction—A 15-Year Experience

The aim of this study was to assess the impact of cardiac magnetic resonance (CMR) on the diagnosis in patients with known or suspected left ventricular noncompaction (LVNC). We retrospectively reviewed the medical charts of 12,811 consecutive patients who had CMR studies between 2008 and 2022 in a large tertiary center. We included patients referred for CMR because of known or suspected LVNC. The study sample consisted of 333 patients, 193 (58.0%) male, median age 39.0 (26.8–51.0) years. Among 74 patients fulfilling the echocardiographic LVNC criteria, the diagnosis was confirmed in 54 (73.0%) cases. In 259 patients with ultrasound-based suspicion of LVNC, CMR led to an LVNC diagnosis in 82 (31.7%) patients. In both groups, CMR led to a new diagnosis in 89 cases (10 (13.5%) and 79 (30.5%)). A quantity of 38 (5.4%) patients were diagnosed with dilated cardiomyopathy, 11 (1.4%) patients were diagnosed with hypertrophic cardiomyopathy, and 21 (4.1%) patients were diagnosed with unclassified cardiomyopathy. In four patients with suspected LVNC, a myocardial trabeculation was a secondary result of dilatation due to coronary heart disease. In five cases, valvular heart disease was found. Four patients were diagnosed with athlete’s heart. Other diagnoses (arrhythmogenic right ventricular cardiomyopathy, peripartum cardiomyopathy, hypokinetic non-dilated cardiomyopathy, sarcoidosis, amyloidosis, and ventricular septum defect) were found in six patients. CMR is a valuable tool in the evaluation of cardiac muscle and in differentiating LVNC and other cardiac diseases

Role of cardiac magnetic resonance in heart failure of initially unknown etiology: A 10-year observational study

Background: The heart failure (HF) population is estimated to be 64.3 million people worldwide and continues to grow. Identifying the underlying cause of HF is crucial for patient management and prognosis. Aims: We sought to evaluate the role of cardiac magnetic resonance (CMR) imaging to identify the etiology of HF and to evaluate the impact of CMR on diagnosis and patient management. Methods: We retrospectively reviewed the medical charts of 8630 consecutive patients referred for CMR in a large tertiary center between 2008 and 2017 (10 years). In this study, we only included patients referred for CMR due to HF of unknown etiology whose diagnostic workup had not revealed suspicion of any specific cardiac disease leading to HF. We also analyzed changes in patient management that were guided by the CMR findings, which were defined as changes in treatment and/or the necessity of further tests.Results: The study sample included 243 patients: 173 (71.2%) patients were male, and the mean (SD) age was 44.0 (15.2) years. All patients underwent contrast-enhanced CMR. Late gadolinium enhancement (LGE) was detected in 74.9% of cases. In 94 patients (38.7%), CMR led to a new diagnosis. In 41 patients (16.9%), patient management was changed by CMR. The latter group comprised patients with coronary artery disease, amyloidosis, valvular disease, and cardiomyopathies other than dilated, namely hypertrophic, restrictive, and left ventricular noncompaction. Conclusions: Our study strongly suggests that CMR imaging is a valuable tool for determining the etiology of HF and affects patient management

Factors associated with the need for pulmonary valve replacement in asymptomatic patients with isolated pulmonary regurgitation after repair of tetralogy of Fallot: a cardiac magnetic resonance study

Background: Pulmonary regurgitation (PR) is the most common late complication in patients after repair of tetralogy of Fallot (TOF). Most patients remain asymptomatic over years, but eventually, the compensatory mechanisms fail, leading to right ventricular (RV) dilation and dysfunction, limited exercise capacity, ventricular arrhythmia, and sudden death. Aims: We aimed to evaluate associations between cardiac magnetic resonance (CMR) parameters and the need for either surgical or percutaneous pulmonary valve replacement (PVR) in asymptomatic patients with significant PR after repair of TOF. Methods: Of 209 patients with repaired TOF who had undergone a CMR study, we selected 61 asymptomatic patients with moderate‑to‑severe PR and followed them for up to 4 years (mean [SD], 21.4 [13.7] months). We excluded patients with residual ventricular septal defect, a peak RV outflow tract gradient of 30 mm Hg or higher, or at least moderate tricuspid regurgitation. Results: Receiver operating characteristic curve analyses revealed that the ratio of RV to left ventricular (LV) volume (RV/ LV ratio; threshold > 2.4) and PR fraction (PRF; threshold > 33%) had acceptable discriminatory capacity to differentiate between patients requiring PVR and those treated conservatively. The Cox proportional hazards regression and the Kaplan–Meier curves revealed that the RV / LV ratio and PRF was significantly associated with the need for PVR. The combination of the RV / LV ratio and PRF provided significant discrimination in terms of survival without PVR (P < 0.001; log‑rank test for trend). Conclusions: The RV/ LV ratio and PRF were significantly associated with the need for PVR in asymptomatic patients with isolated moderate‑to‑severe PR after repair of TOF

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage.

AIMS Cardiac involvement in Fabry disease (FD) occurs prior to left ventricular hypertrophy (LVH) and is characterized by low myocardial native T1 with sphingolipid storage reflected by cardiovascular magnetic resonance (CMR) and electrocardiogram (ECG) changes. We hypothesize that a pre-storage myocardial phenotype might occur even earlier, prior to T1 lowering. METHODS AND RESULTS FD patients and age-, sex-, and heart rate-matched healthy controls underwent same-day ECG with advanced analysis and multiparametric CMR [cines, global longitudinal strain (GLS), T1 and T2 mapping, stress perfusion (myocardial blood flow, MBF), and late gadolinium enhancement (LGE)]. One hundred and fourteen Fabry patients (46 ± 13 years, 61% female) and 76 controls (49 ± 15 years, 50% female) were included. In pre-LVH FD (n = 72, 63%), a low T1 (n = 32/72, 44%) was associated with a constellation of ECG and functional abnormalities compared to normal T1 FD patients and controls. However, pre-LVH FD with normal T1 (n = 40/72, 56%) also had abnormalities compared to controls: reduced GLS (-18 ± 2 vs. -20 ± 2%, P < 0.001), microvascular changes (lower MBF 2.5 ± 0.7 vs. 3.0 ± 0.8 mL/g/min, P = 0.028), subtle T2 elevation (50 ± 4 vs. 48 ± 2 ms, P = 0.027), and limited LGE (%LGE 0.3 ± 1.1 vs. 0%, P = 0.004). ECG abnormalities included shorter P-wave duration (88 ± 12 vs. 94 ± 15 ms, P = 0.010) and T-wave peak time (Tonset - Tpeak; 104 ± 28 vs. 115 ± 20 ms, P = 0.015), resulting in a more symmetric T wave with lower T-wave time ratio (Tonset - Tpeak)/(Tpeak - Tend) (1.5 ± 0.4 vs. 1.8 ± 0.4, P < 0.001) compared to controls. CONCLUSION FD has a measurable myocardial phenotype pre-LVH and pre-detectable myocyte storage with microvascular dysfunction, subtly impaired GLS and altered atrial depolarization and ventricular repolarization intervals