A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD. CASE PRESENTATION: A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying in size in both kidneys. Genetic testing revealed two heterozygous mutations and one exon deletion in the polycystic kidney and hepatic disease 1 gene, indicating a diagnosis of ARPKD. During hospitalization, she was found to have chronic heart failure after respiratory tract infection, with an ejection fraction of 29% and fraction shortening of 13%. When the patient was 15 months old, it was found that she had prominent trabeculations and deep intertrabecular recesses with the appearance of blood flow from the ventricular cavity into the intertrabecular recesses by echocardiography. The noncompaction myocardium was 0.716 cm and compaction myocardium was 0.221 cm (N/C = 3.27), indicating a diagnosis of NVM. Liver and kidney function remained normal during four-year follow-up. CONCLUSIONS: This is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and kidneys.

Ventricular tachycardia triggered by pregnancy in left-ventricular non-compaction cardiomyopathy: a controversial indication to automated defibrillator implantation.

Left-ventricular non-compaction (LVNC) is a rare form of cardiomyopathy. Its clinical presentation is highly variable and during pregnancy is frequently associated with heart failure, embolic events, and arrhythmias. Herein we report a case of a woman with left ventricular non-compaction who had an automated defibrillator implantation for recurrent ventricular arrhythmias during pregnancy. During pregnancy and at long-term follow-up no interventions of the device were documented. In conclusion, the management of malignant arrhythmias during pregnancy is one of the concerns for patients with LVNC and requires a careful approach in third-level centers.

Non-compaction of ventricular myocardium with polycystic kidney disease with cardiogenic cerebral embolism.

Non-compaction of ventricular myocardium is a rare cardiomyopathy involving an early arrest of normal compaction of myocardium during fetal ontogenesis. Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary nephropathy characterised by multiple renal cysts replacing the renal parenchyma and extrarenal manifestations. Here, we report a case of 65-year-old man, chronic smoker, presented with sudden onset right brachial monoparesis, exertional dyspnoea, orthopnoea, bipedal swelling and diagnosed as a case of ADPKD with left ventricular non-compaction cardiomyopathy with acute left ventricular failure and cardiogenic cerebral embolism (no evidence of atrial fibrillation); based on characteristic appearance on two-dimensional echocardiography and cardiac magnetic resonance. The patient was managed with guideline-directed pharmacotherapy for heart failure and anticoagulation as a secondary stroke prevention measure. Through this case report, we try to discuss the association between two rare entities and individualisation of treatment options available as a case-based approach, as no standard treatment guidelines are available.

Left Ventricular Noncompaction: Cause or Consequence of Myocardial Disease? A Case Report and Literature Review.

A 57-year-old woman presented to the Emergency Department with symptoms of worsening heart failure (HF). She had a past medical history of breast cancer treated with surgery and chemotherapy with anthracyclines and no family history of cardiomyopathy (CMP). In the last year, she received a diagnosis of HF with normal coronary arteries, during hospitalization for acute onset of dyspnea and was treated with medical therapy. After several months, few days before admission to our hospital, an echocardiography (ECHO) showed features of left ventricular noncompaction (LVNC), not described in previous ECHO and further confirmed by cardiac magnetic resonance. This case highlights the current uncertainties regarding the pathogenesis of LVNC and the clinical challenge of cardiologists facing LVNC morphology to decide if they are observing a genetic CMP, a phenotype overlapping with dilated or hypertrophic CMP, or a variant of the left ventricular (LV) wall anatomy. No consensus exists among scientific communities regarding diagnostic criteria of LVNC and in most cases; the key element in the diagnostic decision is not the LVNC by itself, but the associated LV dilation and/or dysfunction, hypertrophy, arrhythmias, and embolic events.

Left ventricular noncompaction with pulmonary capillary hemangiomatosis-like lesions: case report.

Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses. Pulmonary capillary hemangiomatosis (PCH) is a rare disease that causes uncontrollable proliferation of pulmonary capillaries. We experienced a 52-year-old man who was diagnosed with LVNC about 8 years previously who subsequently died of heart failure. The major autopsy findings were enlargement of the heart with prominent trabeculations and deep intertrabecular recesses in the apical and middle regions of the left ventricular wall. The mean ratio of noncompacted to compacted layers was 2.4. In the lung, thickened alveolar walls with numerous pulmonary capillaries were evident, findings very similar to PCH. PCH-like lesions and LVNC may have coexisted coincidentally, and both, or either of them, may have contributed to the development of his pulmonary hypertension.

Catheter ablation of a right posterior accessory pathway in a patient with left ventricular noncompaction: A case report.

RTIONALE: Left ventricular noncompaction (LVNC) is a genetic cardiomyopathy characterized by the presence of a thin compacted layer of myocardium and a spongy subendocardial layer with trabeculations and recesses. LVNC associated Wolf-Parkinson-White syndrome is very rare. PATIENT CONCERNS: A 32-year-old male presented with short episodes of palpitations and a syncope 6 months before his hospitalization. DIAGNOSIS: His ECG revealed the presence of a right posterior accessory pathway. Echocardiography identified trabeculations of the septal, apical, and lateral wall of the left ventricle, consistent with left ventricular noncompaction. Cardiac MRI confirmed the diagnosis, as the ratio between the noncompacted and compacted myocardial layer was 2.3. INTERVENTIONS: The electrophysiological study revealed a malignant right posterior accessory pathway. Catheter ablation was successfully performed at the level of posterior tricuspid annulus. Programmed ventricular stimulation could not induce any arrhythmia at the end of the procedure. OUTCOMES: During 15 months of follow-up, the patient presented no more episodes of palpitations or syncope. LESSONS: Left ventricular noncompaction with right accessory pathway is a rare association with genetic basis and gives a higher risk of sudden cardiac death. Catheter ablation of the accessory pathway is a valuable way of treatment in this category of patients, lowering the risk of sudden cardiac death.

Screening for Fabry disease in patients with left ventricular noncompaction.

INTRODUCTION AND AIM: It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC. METHODS: We performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing. RESULTS: The study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case. CONCLUSION: No additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.

Left ventricular noncompaction in a Para athlete / Miocárdio não compactado em paratleta

ABSTRACT The left ventricular noncompaction is a congenital cardiomyopathy characterized by the presence of abnormal trabeculations in the left ventricle. The present study describes the case of a 14-year-old female Para athlete, who plays goalball. She was asymptomatic, with history of congenital nystagmus and mild visual impairment, who presented nonspecific electrocardiographic abnormalities during pre-competition screening. Cardiac magnetic resonance imaging showed left ventricular non-compaction (non-compacted to compacted layer ratio equal to 2.5) and mild biventricular systolic dysfunction. Initially, the patient was excluded from sports participation and clinical follow-up was performed every three months. Patient remained asymptomatic during the one-year follow-up, with no history of unexplained syncope, marked impairment of systolic function or significant ventricular arrhythmias at the exercise stress test. Finally, she was released for competitive goalball participation and clinical follow-up was continued every 6 months. There is no consensus regarding the eligibility criteria for sports participation in cases of left ventricular non-compaction. Thus, it is prudent to individualize the decision regarding practice of sports, as well as to consider participation in competitive sports for asymptomatic individuals and with no disease repercussions.

RESUMO O miocárdio não compactado é uma cardiomiopatia congênita caracterizada pela presença de trabeculações anormais no ventrículo esquerdo. O presente estudo descreve o caso de uma paratleta de goalball, 14 anos, sexo feminino, assintomática, com história pessoal de nistagmo congênito e leve deficiência visual, que apresentou alterações eletrocardiográficas inespecíficas durante avaliação pré-participação. A ressonância magnética cardíaca evidenciou presença de não compactação miocárdica (relação entre camada não compactada/camada compactada igual a 2,5) e disfunção sistólica biventricular leve. Inicialmente, a paciente foi afastada da prática de esportes, e o seguimento clínico foi realizado a cada 3 meses. A paciente permaneceu assintomática durante o período de 1 ano de seguimento, sem história de síncope inexplicada, comprometimento significativo da função sistólica ou taquiarritmias ventriculares importantes ao teste de esforço. Por fim, ela foi liberada para prática competitiva de goalball, e o seguimento clínico foi mantido a cada 6 meses. Não há consenso quanto aos critérios de elegibilidade para a prática esportiva nos casos de miocárdio não-compactado. Assim, é prudente individualizar a decisão quanto a prática esportiva, bem como considerar a participação em esportes competitivos para indivíduos assintomáticos e sem repercussões da doença.

A Rare Case of Non-compaction Cardiomyopathy in an Indo-Caribbean Patient / Un raro caso de cardiomiopatía no compactada en un paciente indo-caribeño

ABSTRACT Non-compaction cardiomyopathy is a rare form of cardiac disease that presents with symptoms of congestive heart failure, ventricular arrhythmias or thromboembolism. Within the Caribbean setting, there are limited data regarding its existence. We present a case of non-compaction cardiomyopathy, diagnosed by transthoracic echocardiogram and cardiac magnetic resonance imaging, with the use of established criteria. It is interesting to highlight such a condition within the small Caribbean population, especially given its link to heritability and the ease with which it can be mistaken for a dilated cardiomyopathy.

RESUMEN La miocardiopatía no compactada o espongiforme es una forma rara de enfermedad cardíaca que se presenta con síntomas de insuficiencia cardíaca congestiva, arritmias ventriculares o tromboembolismos. En el entorno caribeño, hay datos limitados sobre su existencia. Presentamos un caso de cardiomiopatía no compactada, diagnosticada mediante ecocardiograma transtorácico y resonancia magnética cardíaca, con el uso de criterios establecidos. Es interesante destacar tal condición dentro de la pequeña población caribeña, especialmente dada su relación con la heredabilidad y la facilidad con la que se le puede confundir con una miocardiopatía dilatada.

Left Ventricular Noncompaction Combined With Epinephrine-Secreted Pheochromocytoma Inducing Heart Failure.

Pheochromocytomas and left ventricular noncompaction (LVNC) are both rare diseases. In this patient, the long duration of the catecholamine-secreted pheochromocytoma caused myocardial ischemia, pressure overload, and hypertrophy, resulting in the onset of heart failure (HF). The LVNC might be associated with the acute attack of HF induced by the pheochromocytoma. This is the first case reporting LVNC in combination with HF secondary to pheochromocytoma.

Não Compactação do Ventrículo Esquerdo no Adulto: Experiência de umaClínica de Insuficiência Cardíaca / Left Ventricular Noncompaction in Adulthood: Heart Failure Clinic Experience

Fundamentos: A não compactação do ventrículo esquerdo (NCVE) é um tipo distinto de cardiomiopatia, queapresenta várias características específicas. O curso natural desta entidade não é totalmente conhecido.Objetivos: Definir as características clínicas, complicações e sobrevida de pacientes com NCVE, acompanhadosem clínica de insuficiência cardíaca (IC).Métodos: Estudo retrospectivo que incluiu pacientes com NCVE, tratados em clínica de IC do Hospital São João, na cidade do Porto, Portugal, de janeiro de 2006 a fevereiro de 2014. Os dados demográficos, sintomas de IC e fração de ejeção no início do tratamento, o curso da NCVE (alterações da classe funcional), efeitos colaterais esobrevivência foram registrados a partir dos prontuários. Resultados: Foram incluídos 10 pacientes, 6 do sexo masculino, com mediana de 63 anos de idade. Nove apresentavam sintomas de IC e começaram medicação modificadora de prognóstico. Todos tinham fração deejeção do ventrículo esquerdo <45%. Um paciente não iniciou hipocoagulação oral; 7 apresentaram algum grau de recuperação de sintomas de IC; 3 foram hospitalizados com exacerbações de IC; 1 teve acidente vascular encefálico cardioembólico; e 1 paciente foi submetido a transplante de coração.Conclusões: Os pacientes com NCVE apresentaram comorbidades semelhantes às da população geral da sua faixa etária, exceto o aparente aumento da prevalência de FA. Estes pacientes responderam bem à terapêutica para a IC com benefício clínico. Houve poucas complicações, a maioria permaneceu clinicamente estável, sem qualquer hospitalizaçãoe com baixa taxa de mortalidade. Contudo, trata-se de um pequeno grupo de pacientes com tempo de seguimento curto.

Background: Left ventricular noncompaction (LVNC) is a distinct type of cardiomyopathy that presents several specific characteristics. The natural course of this condition is not totally known. Objectives: To define the clinical characteristics, complications and survival of patients with LVNC assisted in heart failure (HF) healthcare service.Methods: Retrospective study that included patients with LVNC treated in a HF healthcare service from Hospital São João, in Porto, Portugal, from January 2006 to February 2014. Demographic data, symptoms of heart failure and ejection fraction at the beginningof treatment, the course of LVNC (changes in functional class), side effects and survival were recorded from medical records. Results: The study included 10 patients, 6 males, with a median of 63 years of age. Nine had symptoms of HF and started taking medication to modify prognosis. Everyone had left ventricular ejection fraction <45%. One patient did not start oral anticoagulation; 7 had some degree of recovery symptoms of HF; 3 were hospitalized with heart failure exacerbations; 1 had cardioembolic stroke; and 1 patient underwent heart transplant.Conclusions: Patients with LVNC had similar comorbidities as the general population of their age group, except the apparent increase in the prevalence of AF. These patients responded well to therapy for IC with some clinical benefit. There were few complications, most remained clinically stable, without any hospitalization and low mortality rate. However, it is a small group ofpatients with short follow-up time.

Sudden death due to biventricular non-compaction cardiomyopathy in a 14-year-old.

A 14-year-old African-American female with a long-standing medically and ablation-treated history of tachycardia with associated seizures died suddenly. Upon autopsy, evidence of gross non-compaction involving the left ventricle, as well as possible subtle non-compaction of the right ventricle was discovered. Microscopically, there was focal myocyte hypertrophy as well as myxoid connective tissue and subendocardial fibroelastosis in the areas affected by the non-compaction. Arrhythmia, precipitated by the underlying cardiomyopathy, led to this young girl's death. Non-compaction cardiomyopathy is a rare cardiac disorder which commonly goes undiagnosed until post-mortem, although diagnosis through echocardiogram, CT, or MRI is possible and there is criterion for diagnosis with each of these.

Aortic root replacement in a patient with left ventricular noncompaction.

We describe the case of a 57-year-old woman with noncompaction of the left ventricle and regurgitant bicuspid aortic valve who presented with progressive congestive heart failure and was successfully treated with aortic root replacement. The long-term outcome for these patients is poor because of progressive left ventricular impairment, increased rates of life-threatening arrhythmias, and intraventricular thrombi. To our knowledge, only 3 patient with noncompaction of the left ventricle has been reported to have undergone aortic valve replacement for severely regurgitant bicuspid aortic valve. Herein, we describe a patient with noncompaction of the left ventricle who underwent successful mechanical aortic root replacement.

Aortic valve replacement for aortic regurgitation with rare left ventricular non-compaction.

Left ventricular noncompaction cardiomyopathy is a rare type of congenital cardiomyopathy characterized by prematurely arrested compaction of the endocardial and myocardial fibers and the progressive deterioration of left ventricular contractility. This entity is a genetically heterogeneous disorder and has a wide spectrum of presentation from no symptoms to critical disabling congestive heart failure, which can appear at any age. The prognosis is therefore varied. An elderly patient with left ventricular noncompaction underwent aortic valve replacement for associated aortic regurgitation.Follow-up at two years after surgery revealed an improved clinical condition and recovered cardiac function. This is the fourth known aortic valve replacement in a patient with left ventricular noncompaction.

Incessant slow bundle branch reentrant ventricular tachycardia in a young patient with left ventricular noncompaction.

A 15-year-old girl was admitted to the cardiology outpatient clinic due to mild palpitations and documented incessant slow ventricular tachycardia (VT) with left bundle branch block (LBBB) pattern. The baseline electrocardiogram revealed first-degree atrioventricular block and intraventricular conduction defect. Transthoracic echocardiography showed prominent trabeculae and intertrabecular recesses suggesting left ventricular noncompaction (LVNC), which was confirmed by cardiac magnetic resonance imaging. During electrophysiological study, a sustained bundle branch reentrant VT with LBBB pattern and cycle length of 480 ms, similar to the clinical tachycardia, was easily and reproducibly inducible. As there was considerable risk of need for chronic ventricular pacing following right bundle ablation, no ablation was attempted and a cardioverter-defibrillator was implanted. To the best of our knowledge, no case reports of BBR-VT as the first manifestation of LVNC have been published. Furthermore, this is an extremely rare presentation of BBR-VT, which is usually a highly malignant arrhythmia.