A predominantly right ventricular variant of isolated noncompaction cardiomyopathy is a potentially lethal disease entity, which only recently has become recognized in the clinical and cardiac imaging literature. There are currently few established morphologic criteria for the diagnosis other than right ventricular dilation and presence of excessive regional trabeculation. To date, there have been no autopsy reports of cases following either clinical diagnosis or sudden death. We report 2 adult cases of sudden unexpected death in which unexplained right ventricular dilation and prominent apical hypertrabeculation were the principal findings. The gross and microscopic results suggest pathological similarities between, or coexistence of, right ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathies.

A predominantly right ventricular variant of isolated noncompaction cardiomyopathy is a potentially lethal disease entity, which only recently has become recognized in the clinical and cardiac imaging literature. There are currently few established morphologic criteria for the diagnosis other than right ventricular dilation and presence of excessive regional trabeculation. To date, there have been no autopsy reports of cases following either clinical diagnosis or sudden death. We report 2 adult cases of sudden unexpected death in which unexplained right ventricular dilation and prominent apical hypertrabeculation were the principal findings. The gross and microscopic results suggest pathological similarities between, or coexistence of, right ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathies.

Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent trabeculations and deep intertrabecular recesses within the left ventricle, sometimes also affecting the right ventricle and interventricular septum. Familial occurrence of this disorder was described previously. We present a family in which 6 affected individuals demonstrated X-linked recessive inheritance of this trait. Affected relatives presented postnatally with left ventricular failure and arrhythmias, associated with the pathognomonic echocardiographic findings of INVM. The usual findings of Barth syndrome (neutropenia, growth retardation, elevated urinary organic acids, low carnitine levels, and mitochondrial abnormalities) were either absent or found inconsistently. Fetal echocardiograms obtained between 24-30 weeks of gestation in 3 of the affected males showed a dilated left ventricle in one heart, but were not otherwise diagnostic of INVM in any of the cases. Four of the affected individuals died during infancy, one is in cardiac failure at age 8 months, and one is alive following cardiac transplant at age 9 months. The hearts from infants who died or underwent transplantation appeared, on gross examination, to be enlarged, with coarse, deep ventricular trabeculations and prominent endocardial fibroelastosis. Histologically, there were loosely organized fascicles of myocytes in subepicardial and midmyocardial zones of both ventricles, and the myocytes showed thin, often angulated fibers with prominent central clearing and reduced numbers of filaments. Markedly elongated mitochondria were present in some ventricular myocytes from one specimen, but this finding was not reproducible. Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.

Introdução: Dos mecanismos fisiopatológicos à estratificação de risco e manejo, ainda persistem hoje muitas lacunas e debates sobre a miocardiopatia não compactada (MNC). Recentemente, a ressonância magnética cardiovascular (RMC) vem sendo amplamente utilizada para aumentar a precisão do diagnóstico de MNC em pacientes com alta probabilidade clínica pré-teste, com valor prognóstico e alta relevância na tomada de decisões clínicas. Objetivo: Este estudo teve como objetivo caracterizar o mapeamento T1 e o volume extracelular (VEC) miocárdico por RMC em pacientes com MNC e investigar como esses marcadores teciduais relacionam-se com a fração de ejeção do ventrículo esquerdo (FEVE) e arritmias ventriculares (AV). Métodos: Foram recrutados prospectivamente 36 pacientes com MNC e 18 controles saudáveis para realizarem uma RMC com mapeamento T1 entre julho de 2013 e setembro de 2016. O VEC foi avaliado apenas para os segmentos do ventrículo esquerdo sem áreas de fibrose macroscópica pela técnica do realce tardio (RT), objetivando-se investigar a presença de fibrose miocárdica intersticial difusa. Para avaliar as diferenças entre os parâmetros de RMC nos pacientes e controles, foram usados o teste t entre as amostras pareadas (Wilcoxon) e um modelo de regressão linear foi construído para investigar a relação entre a FEVE e os achados clínicos e de imagem (inclusive o VEC). Resultados: Os pacientes com MNC apresentaram maiores valores de T1 nativo (1.024 ± 43ms versus 995 ± 22ms, p = 0,01) e VEC (28,0 ± 4,5% vs. 23,5 ± 2,2%, p < 0,001) em relação aos controles. Apenas o VEC foi associado independentemente com a FEVE (beta = -1,3, p = 0,003) na regressão multivariada. Houve uma interessante tendência para a terapia betabloqueadora modificar positivamente a relação entre ECV e LVEF (beta = 4,1, intervalo de confiança de 95%, -0,6 a 8,8), porém com p alto (0,08). Além disso, entre pacientes com MNC e RT ausente (negativo), AV foram associadas com maior VEC (27,7% em pacientes com AV vs 25,8% em pacientes sem AV, p = 0,002). Conclusão: Nos pacientes com MNC, a caracterização tecidual miocárdica por mapeamento T1 sugere uma expansão extracelular por fibrose intersticial difusa no miocardio sem fibrose focal pelo RT, o que foi associada à disfunção ventricular e AV. Tais achados podem dar suporte a um potencial valor do mapeamento T1 no refino da estratificação de risco de pacientes com MNC / Background: From pathophysiological mechanisms to risk stratification and management, much debate and discussion persist regarding non-compaction cardiomyopathy (NCC). Recently, cardiovascular magnetic resonance (CMR) imaging has been widely used to more accurately diagnose NCC in patients with high clinical pre-test probability, with prognostic value and high relevance in the clinical decision making process. Purpose: This study aimed to characterize myocardial T1 mapping and extracellular volume (ECV) fraction by cardiovascular magnetic resonance (CMR), as well as investigate how these tissue markers relate to left ventricular ejection fraction (LVEF) and ventricular arrhythmias (VA) in patients with NCC. Methods: We prospectively recruited 36 patients with NCC and 18 controls to perform a cardiovascular magnetic resonance (CMR) with T1 mapping between July 2013 and September 2016. ECV was quantified in LV segments without late gadolinium enhancement (LGE) areas to investigate diffuse myocardial fibrosis. Differences in CMR parameters between patients and controls were assessed using t-test or Wilcoxon rank-sum test, and a linear regression model was built for LVEF to test the association with ECV and clinical characteristics. Results: Patients with NCC had higher native T1 (1024±43ms vs. 995±22ms, p=0.01) and expanded ECV (28.0±4.5% vs. 23.5±2.2%, p < 0.001) compared to controls. ECV was independently associated with LVEF (beta=-1.3, p=0.003). There was a trend for beta-blocker therapy to modify the relationship between ECV and LVEF (beta=4.1, 95% confidence interval, 0.6 to 8.8, p=0.08). Moreover, among patients without LGE, VA were associated with higher ECV (27.7% with VA vs 25.8% without VA, p=0.002). Conclusion: In NCC patients, tissue characterization by T1 mapping suggests an extracellular expansion by diffuse fibrosis in myocardium without LGE, which was associated with myocardial dysfunction and VA. These findings lend support to the potential role of T1 mapping in refining NCC risk stratification

Introdução: Dos mecanismos fisiopatológicos à estratificação de risco e manejo, ainda persistem hoje muitas lacunas e debates sobre a miocardiopatia não compactada (MNC). Recentemente, a ressonância magnética cardiovascular (RMC) vem sendo amplamente utilizada para aumentar a precisão do diagnóstico de MNC em pacientes com alta probabilidade clínica pré-teste, com valor prognóstico e alta relevância na tomada de decisões clínicas. Objetivo: Este estudo teve como objetivo caracterizar o mapeamento T1 e o volume extracelular (VEC) miocárdico por RMC em pacientes com MNC e investigar como esses marcadores teciduais relacionam-se com a fração de ejeção do ventrículo esquerdo (FEVE) e arritmias ventriculares (AV). Métodos: Foram recrutados prospectivamente 36 pacientes com MNC e 18 controles saudáveis para realizarem uma RMC com mapeamento T1 entre julho de 2013 e setembro de 2016. O VEC foi avaliado apenas para os segmentos do ventrículo esquerdo sem áreas de fibrose macroscópica pela técnica do realce tardio (RT), objetivando-se investigar a presença de fibrose miocárdica intersticial difusa. Para avaliar as diferenças entre os parâmetros de RMC nos pacientes e controles, foram usados o teste t entre as amostras pareadas (Wilcoxon) e um modelo de regressão linear foi construído para investigar a relação entre a FEVE e os achados clínicos e de imagem (inclusive o VEC). Resultados: Os pacientes com MNC apresentaram maiores valores de T1 nativo (1.024 ± 43ms versus 995 ± 22ms, p = 0,01) e VEC (28,0 ± 4,5% vs. 23,5 ± 2,2%, p < 0,001) em relação aos controles. Apenas o VEC foi associado independentemente com a FEVE (beta = -1,3, p = 0,003) na regressão multivariada. Houve uma interessante tendência para a terapia betabloqueadora modificar positivamente a relação entre ECV e LVEF (beta = 4,1, intervalo de confiança de 95%, -0,6 a 8,8), porém com p alto (0,08). Além disso, entre pacientes com MNC e RT ausente (negativo), AV foram associadas com maior VEC (27,7% em pacientes com AV vs 25,8% em pacientes sem AV, p = 0,002). Conclusão: Nos pacientes com MNC, a caracterização tecidual miocárdica por mapeamento T1 sugere uma expansão extracelular por fibrose intersticial difusa no miocardio sem fibrose focal pelo RT, o que foi associada à disfunção ventricular e AV. Tais achados podem dar suporte a um potencial valor do mapeamento T1 no refino da estratificação de risco de pacientes com MNC / Background: From pathophysiological mechanisms to risk stratification and management, much debate and discussion persist regarding non-compaction cardiomyopathy (NCC). Recently, cardiovascular magnetic resonance (CMR) imaging has been widely used to more accurately diagnose NCC in patients with high clinical pre-test probability, with prognostic value and high relevance in the clinical decision making process. Purpose: This study aimed to characterize myocardial T1 mapping and extracellular volume (ECV) fraction by cardiovascular magnetic resonance (CMR), as well as investigate how these tissue markers relate to left ventricular ejection fraction (LVEF) and ventricular arrhythmias (VA) in patients with NCC. Methods: We prospectively recruited 36 patients with NCC and 18 controls to perform a cardiovascular magnetic resonance (CMR) with T1 mapping between July 2013 and September 2016. ECV was quantified in LV segments without late gadolinium enhancement (LGE) areas to investigate diffuse myocardial fibrosis. Differences in CMR parameters between patients and controls were assessed using t-test or Wilcoxon rank-sum test, and a linear regression model was built for LVEF to test the association with ECV and clinical characteristics. Results: Patients with NCC had higher native T1 (1024±43ms vs. 995±22ms, p=0.01) and expanded ECV (28.0±4.5% vs. 23.5±2.2%, p < 0.001) compared to controls. ECV was independently associated with LVEF (beta=-1.3, p=0.003). There was a trend for beta-blocker therapy to modify the relationship between ECV and LVEF (beta=4.1, 95% confidence interval, 0.6 to 8.8, p=0.08). Moreover, among patients without LGE, VA were associated with higher ECV (27.7% with VA vs 25.8% without VA, p=0.002). Conclusion: In NCC patients, tissue characterization by T1 mapping suggests an extracellular expansion by diffuse fibrosis in myocardium without LGE, which was associated with myocardial dysfunction and VA. These findings lend support to the potential role of T1 mapping in refining NCC risk stratification