Feasibility of exercise treadmill 13N-ammonia positron emission tomography myocardial perfusion imaging using an off-site cyclotron.

BACKGROUND: Myocardial perfusion imaging with treadmill exercise nitrogen-13 (13N)-ammonia positron emission tomography (PET) presents a logistical challenge. We investigated the feasibility of exercise treadmill (GXT) 13N-ammonia PET MPI using an off-site cyclotron for production of 13N-ammonia. METHODS: Thirty-three patients underwent GXT 13N-ammonia PET MPI over 23 months. 13N-ammonia doses were prepared at an off-site cyclotron. Patients underwent 13N-ammonia resting and 13N-ammonia GXT emission and transmission scans at our facility. Image quality, perfusion data, and clinical variables were evaluated. RESULTS: We analyzed 33 patients (7/26 female/male). Mean age was 63 ± 12 years and mean BMI was 33.7 ± 6.9. GXT PET was feasible in all patients. Image quality was good in 29 patients, adequate in 3, and severely compromised in 1 patient. Summed stress score was 4.5 ± 5.7. Resting and GXT left ventricular ejection fractions were 63.7 ± 10.9% and 66.3 ± 13.1%. TID ratio was 1.0 ± 0.1. CONCLUSIONS: Treadmill exercise 13N-ammonia PET is feasible in a large medical center without access to an on-site cyclotron. This technique requires close coordination with an off-site cyclotron but expands the role of PET to patients for whom exercise is more appropriate than pharmacologic stress imaging.

Familial Mitral Arcade, Tricuspid Dysplasia, Left Ventricular Noncompaction and Short-Chain Acyl-CoA Reductase Deficiency.

Mitral arcade is a rare entity that is mostly reported in pediatric patients. We present the first 2 adult cases of mitral arcade in combination with tricuspid dysplasia, left ventricular noncompaction, and short-chain acyl-CoA deficiency in 2 brothers. We examined clinical and echocardiographic data on 2 brothers with a combination of short-chain acyl-CoA deficiency, mitral arcade, tricuspid dysplasia, and left ventricular noncompaction (LVNC), highlighting their clinical course and outcomes. Two-dimensional and 3-dimensional transthoracic echocardiography revealed direct attachment of the papillary muscles to the mitral leaflets, namely mitral arcade, as well as mild mitral regurgitation along with LVNC and tricuspid dysplasia. Over the past 7 years, both brothers have remained asymptomatic with excellent exercise capacity (13 and 10 metabolic equivalents (METS), respectively). Mitral and tricuspid regurgitation remain mild with unchanged left ventricular function (ejection fraction: 65% and 59%). In conclusion, we highlight 2 cases with a constellation of pathology including short-chain acyl-CoA deficiency, mitral arcade, tricuspid dysplasia, and LVNC, which has never been described before.

Intrinsic mitral valve alterations in hypertrophic cardiomyopathy sarcomere mutation carriers.

Aims: Mitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic manifestations of sarcomere mutations, present in mutation carriers without left ventricular (LV) hypertrophy (subclinical HCM). However, further study is required to characterize the nature of these changes and their functional impact. Thus, we performed comprehensive echocardiographic analysis of MV structure and function on a genotyped population. Methods and results: MV and papillary muscle echocardiographic parameters were measured in 192 genotyped individuals, including 50 overt HCM, 79 subclinical HCM, and 63 mutation-negative, healthy relatives as normal controls. Compared to controls, subclinical HCM subjects had elongated anterior MV leaflets relative to LV end-diastolic volume index (0.57 ± 0.02 vs. 0.51 ± 0.02 mm/mL/m2, P = 0.013) and anteriorly displaced papillary muscles [decreased papillary-septal separation (31.1 ± 0.7 vs. 34.2 ± 0.9 mm, P = 0.004) and relative antero-posterior position ratio of the papillary muscles (0.67 ± 0.01 vs. 0.71 ± 0.01, P = 0.011]. Similar findings were identified comparing overt HCM to controls. These MV changes were associated with an increased prevalence of systolic anterior motion (SAM) of the MV amongst subclinical HCM subjects. Conclusions: Sarcomere mutations are associated with primary abnormalities of the MV apparatus, specifically excess anterior leaflet length relative to LV cavity size and anterior displacement of the papillary muscles; both features predisposing to SAM. These abnormalities appear to be early phenotypic consequences of sarcomere mutations, observed in mutation carriers with normal LV wall thickness.