Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management.

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by the thickening of the heart muscle, which can lead to symptoms such as chest pain, shortness of breath, and an increased risk of sudden cardiac death. However, not all patients with HCM have the same underlying genetic mutations, and some have conditions that resemble HCM but have different genetic or pathophysiological mechanisms, referred to as phenocopies. Cardiac magnetic resonance (CMR) imaging has emerged as a powerful tool for the non-invasive assessment of HCM and its phenocopies. CMR can accurately quantify the extent and distribution of hypertrophy, assess the presence and severity of myocardial fibrosis, and detect associated abnormalities. In the context of phenocopies, CMR can aid in the differentiation between HCM and other diseases that present with HCM-like features, such as cardiac amyloidosis (CA), Anderson-Fabry disease (AFD), and mitochondrial cardiomyopathies. CMR can provide important diagnostic and prognostic information that can guide clinical decision-making and management strategies. This review aims to describe the available evidence of the role of CMR in the assessment of hypertrophic phenotype and its diagnostic and prognostic implications.

Extrinsic pulmonary stenosis in primary mediastinal B-cellular lymphoma.

We describe the case of a 34-year-old man with a history of asthenia and excessive fatigability. Transthoracic echocardiography showed a mass in the right ventricular outflow tract with a peak systolic gradient of 52 mmHg. Contrast-enhanced CT confirmed the presence of a lobulated mass, which extensively filled the anterior mediastinum, infiltrating the pulmonary artery trunk up to occupying the right ventricular outflow tract. CT-guided biopsy revealed primary mediastinal B-cellular lymphoma. The patient underwent chemotherapy, achieving complete remission of the disease at the 12-month follow-up, while the gradient across the pulmonary artery dropped from 52 mmHg to 14 mmHg.

P-wave voltage and peaking on electrocardiogram in patients undergoing head-up tilt testing for history of syncope.

BACKGROUND: Only scanty data are available in the literature on P-wave (PW) morphology at ECG in patients with history of vasovagal syncope undergoing diagnostic functional testing. In this study, we evaluated resting and head-up tilt testing (HUTT) related changes in PW voltage (PWV) and duration (PVD) and their relationship with triggered syncope. METHODS: 55 patients, mean aged 41 ± 19 y (35 F), without patent heart disease or neuropathy, underwent potentiated HUTT according to the Italian protocol. Heart rate (HR), blood pressure (BP), PR-interval, PWV and PWD were measured at rest, 15 min from passive position (15-min) and after nitroglycerine (peak-HR). PW peaking (PWP) was calculated as percent increase in PWV than baseline values. Patients were divided into 2 groups based on tilt-positive (group-A) or negative (group-B) response. RESULTS: 20 patients (36%) entered the group-A, whereas 35 (64%) the group-B. Higher PWV was observed at baseline in group-A (0.147 ± 0.034 mV vs 0.114 ± 0.036 mV in group-B, p=0.001), with no differences in the remaining ECG measurements. BP was lower in group-A than in B, both at 15-min and peak-HR. HUTT-related PWP in lead II (the most significant among all inferior leads) was 31 ± 30% in group-A vs 95 ± 54% in group-B (p<0.0001) at 15-min, and 52 ± 44% vs 112±72% at peak-HR, respectively (p=0.002). 75% of patients with PWP ≤ 50% experienced HUTT-triggered syncope, vs 5% of those with PWP ≥ 100% (p<0.0001). CONCLUSIONS: This study shows a potential relationship between HUTT-triggered syncope and low or absent PWP, suggesting a role for atrial chamber functional involvement in the mechanisms underlying the vasovagal syncope.

Evidence of cardiovascular autonomic impairment in mitochondrial disorders.

OBJECTIVE: To investigate autonomic nervous system (ANS) function in mitochondrial disorders (MD). BACKGROUND: MD are characterized by a wide range of clinical features, including heart abnormalities and peripheral and central nervous systems involvement. Rarely autonomic symptoms have been reported. METHODS: 22 patients with MD underwent a battery of cardiovascular reflex tests including five tests of parasympathetic function and four tests of sympathetic function. Power spectral analyses (PSA) of heart rate variability in the supine and upright positions were also evaluated. Plasma levels of adrenaline, noradrenaline and dopamine were determined in the standing and lying positions. RESULTS: Only 4/22 patients referred symptoms related to ANS dysfunction. 46% of patients had a definite autonomic damage (i. e. an autonomic score >/= 4). 36% showed moderate alterations with an autonomic score in the range 2-3 and 18 % had a normal autonomic function. MD patients had a significantly (p <0.03) lower increase of adrenaline level after standing. CONCLUSIONS: Our data indicate an autonomic dysfunction in more than 80% of MD patients, even in the absence of a clinically manifested autonomic involvement. Cardiovascular autonomic investigation might be systematically employed in the characterization of MD.

Echocardiographic assessment of subclinical left ventricular eccentric hypertrophy in adult-onset GHD patients by geometric remodeling: an observational case-control study.

BACKGROUND: Most patients with growth hormone deficiency (GHD) show high body mass index. Overweight subjects, but GHD patients, were demonstrated to have high left ventricular mass index (LVMi) and abnormal LV geometric remodeling. We sought to study these characteristics in a group of GHD patients, in an attempt to establish the BMI-independent role of GHD. METHODS: Fifty-four patients, 28 F and 26 M, aged 45.9 +/- 13.1, with adult-onset GHD (pituitary adenomas 48.2%, empty sella 27.8%, pituitary inflammation 5.5%, cranio-pharyngioma 3.7%, not identified pathogenesis 14.8%) were enrolled. To minimize any possible interferences of BMI on the aim of this study, the control group included 20 age- and weight-matched healthy subjects. The LV geometry was identified by the relationship between LVMi (cut-off 125 g/m2) and relative wall thickness (cut-off 0.45) at echocardiography. RESULTS: There was no significant between-group difference in resting cardiac morphology and function, nor when considering age-related discrepancy. The majority of patients had normal-low LVM/LVMi, but about one fourth of them showed higher values. These findings correlated to relatively high circulating IGF-1 and systolic blood pressure at rest. The main LV geometric pattern was eccentric hypertrophy in 22% of GHD population (26% of with severe GHD) and in 15% of controls (p = NS). CONCLUSION: Though the lack of significant differences in resting LV morphology and function, about 25% of GHD patients showed high LVMi (consisting of eccentric hypertrophy), not dissimilarly to overweight controls. This finding, which prognostic role is well known in obese and hypertensive patients, is worthy to be investigated in GHD patients through wider controlled trials.