ABSTRACT
A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic cardiovascular exploration and molecular investigations. The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene. Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-NCCM phenotype and illustrates that, in front of this combined clinical phenotype, HCN4 mutations has to be suspected.
Subject(s)
Bradycardia/genetics , Cardiomyopathies/genetics , Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/genetics , Muscle Proteins/genetics , Potassium Channels/genetics , Adolescent , Base Sequence , Child , Female , Genetic Testing , Humans , Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels/metabolism , Molecular Sequence Data , Muscle Proteins/metabolism , Mutation , Phenotype , Potassium Channels/metabolism , Young AdultABSTRACT
BACKGROUND: The purpose of this study was to assess the value of technetium 99m sestamibi gated single photon emission computed tomography (SPECT) in predicting the evolution of left ventricular volumes in patients treated successfully in the acute phase of a myocardial infarction (MI). METHODS AND RESULTS: Twenty-nine patients with acute MI and early percutaneous transluminal coronary angioplasty (PTCA) were included in this study. A rest Tc-99m sestamibi electrocardiography (ECG)-gated SPECT study was performed 21 +/- 5 days after PTCA. The myocardial perfusion index was calculated by use of a semiautomatic sectorial analysis. All patients had contrast ventriculography performed during the acute phase and 6 months later. The patients were separated into two groups according to the absence (group I, n = 21) or presence (group II, n = 8) of end-systolic enlargement. The perfusion index in the infarct sectors was -2.29 +/- 2.90 SD in group I and -6.40 +/- 2.85 SD in group II ( P < .01). With a cutoff value of -2.46 SD, the sensitivity and specificity of Tc-99m sestamibi SPECT for the prediction of end-systolic volume enlargement were 100% and 62%, respectively. When the functional data from ECG-gated acquisitions were added, specificity increased to 86%. CONCLUSIONS: Despite successful PTCA in the acute phase of MI, an increase in end-systolic volume was observed at 6 months in 28% of patients. Tc-99m sestamibi ECG-gated SPECT performed 3 weeks after the acute phase could predict this enlargement with a high accuracy.
Subject(s)
Angioplasty, Balloon , Myocardial Infarction/diagnostic imaging , Myocardial Infarction/surgery , Technetium Tc 99m Sestamibi , Ventricular Dysfunction, Left/diagnostic imaging , Ventricular Dysfunction, Left/surgery , Ventricular Remodeling , Female , Gated Blood-Pool Imaging/methods , Heart Ventricles/diagnostic imaging , Heart Ventricles/pathology , Humans , Male , Middle Aged , Myocardial Infarction/complications , Myocardial Infarction/diagnosis , Necrosis/diagnostic imaging , Necrosis/etiology , Prognosis , Radiopharmaceuticals , Reproducibility of Results , Rest , Sensitivity and Specificity , Severity of Illness Index , Tissue Survival , Tomography, Emission-Computed, Single-Photon/methods , Treatment Outcome , Ventricular Dysfunction, Left/etiologyABSTRACT
The prevalence of coronary artery abnormalities, in particular the single vessel form, is low among the general population. We report a case of a transluminal angioplasty of the left anterior descending artery arising from the right coronary artery during the acute phase of myocardial infarction.