Biventricular Non-compaction Cardiomyopathy Research Articles

The Unwanted Soft Spot: A Rare Case of Biventricular Non-compaction Cardiomyopathy Causing Heart Failure in an Adult Filipino Male

Biventricular non-compaction cardiomyopathy is a rare genetic cardiomyopathy caused by an early cessation of compaction of trabecular meshwork during embryogenesis. The clinical manifestations range from asymptomatic to severe reduced ventricular dysfunction. We present a rare case of biventricular non-compaction cardiomyopathy in an adult Filipino male presenting with heart failure symptoms. A 61-year-old male presented with a 1-year history of easy fatigability accompanied by bipedal oedema. ECG showed AF in rapid ventricular response. Echocardiography revealed wall motion abnormality with mid-range ejection fraction. Cardiac MRI showed biventricular dilatation with reduced systolic function. He was stable throughout the hospital stay and discharged with guideline-directed heart failure medications. Biventricular non-compaction cardiomyopathy is rare. However, it can be seen as a spectrum of phenotypic manifestations as this may be a form of cardiomyopathies. The management primarily depends on the clinical manifestation, as no specific treatment protocol exists. A correct diagnosis is essential because of the possible associations and the need for long-term management and screening of family members.

Successful pregnancy course and outcome in a patient with unusual coincidence of two structural heart defects: Ebstein anomaly and biventricular non-compaction cardiomyopathy - extremely rare, but there!

Successful pregnancy course and outcome in a patient with unusual coincidence of two structural heart defects: Ebstein anomaly and biventricular non-compaction cardiomyopathy - extremely rare, but there!

Long-Term Postnatal Follow-Up in Monochorionic TTTS Twin Pregnancies Treated with Fetoscopic Laser Surgery and Complicated by Right Ventricular Outflow Tract Anomalies.

Right ventricular outflow tract anomalies (RVOTAs), such as pulmonary stenosis (PS), pulmonary atresia (PA), and pulmonary insufficiency (PI), are typical cardiac anomalies in monochorionic twins, and they are complicated by twin-to-twin transfusion syndrome (TTTS). The aim of this study was to conduct a long-term postnatal cardiological evaluation of prenatal RVOTAs in monochorionic diamniotic twin pregnancies complicated by TTTS and treated with fetoscopic laser surgery (FLS) and to analyze possible prenatal predictors of congenital heart disease (CHD). Prenatal RVOTAs were retrospectively retrieved from all TTTS cases treated with FLS in our unit between 2009 and 2019. Twenty-eight prenatal cases of RVOTAs (16 PI, 10 PS, 2 PA) were observed out of 335 cases of TTTS. Four cases did not reach the postnatal period. CHD was present in 17 of the remaining 24 cases (70.8%), with 10 being severe (58.8%; 10/17); nine cases of PS required balloon valvuloplasty, and one case required biventricular non-compaction cardiomyopathy. The risk of major CHD increased with prenatal evidence of PS and decreased with the gestational age at the time of TTTS and with the prenatal normalization of blood flow across the pulmonary valve. Despite treatment with FLS, the majority of monochorionic diamniotic twin pregnancies complicated by TTTS with prenatal RVOTAs had CHD at long-term follow-up.

Biventricular non-compaction cardiomyopathy: Rare disease and far rarer case.

Biventricular non-compaction cardiomyopathy: Rare disease and far rarer case.

BIVENTRICULAR NON-COMPACTION CARDIOMYOPATHY WITH LEFT VENTRICULAR DYSFUNCTION

Non-compaction of the ventricular myocardium involving both ventricles is a rare condition and characterized by deeply increased trabeculations in one or more segments of the ventricle. Non-compaction is thought to be due to intrauterine arrest of compaction of the loosely interwoven meshwork present in fetal myocardial primordium. More recent studies suggest that non-compaction of the ventricular myocardium can be acquired later on in life sporadically.The apical segment of the left ventricle is most commonly affected, but biventricular involvement is also described. Herein, we describe an unusual case of biventricular non-compaction cardiomyopathy with left ventricular systolic and diastolic dysfunction. A 54-year-old man presented with clinical heart failure as well as arrhythmia. Transthoracic echocardiography revealed left ventricular non-compaction with depressed ejection fraction. Cardiac magnetic resonance imaging (MRI) further revealed right ventricular noncompaction.

Response to commentary: biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency

Response to commentary: biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency

Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review.

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy that is believed it to arise from an arrest in embryonic endomyocardial development. More recent studies suggest that it can be acquired later on in life sporadically. It may be accompanied by life-threatening complications, which are most commonly heart failure, arrhythmias, and thromboembolic events. We report a case of biventricular noncompaction cardiomyopathy in a 36-year-old man presenting for the first time with clinical heart failure as well as atrial arrhythmia. Transthoracic echocardiography (TTE) revealed LVNC with depressed ejection fraction (EF). Cardiac magnetic resonance imaging (MRI) further revealed a left atrial appendage thrombus as well as right ventricular noncompaction involvement. His physical exam was unique for a characteristic facial dysmorphisms pattern and developmental delays reminiscent of the earliest descriptions of LVNC in the pediatric population and it was rarely described in adult patients. This unique presentation underscores the importance of a better understanding of the genetics and natural course of LVNC. This will help us to elucidate the uncertainty surrounding its clinical management, discussed in a brief review of the literature following the case.

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.

Ventricular non‐compaction cardiomyopathy: prenatal diagnosis and pathology

The objective of this study is to evaluate the prenatal diagnosis of ventricular non-compaction cardiomyopathy (NCCM) and to report the pathologic features and the characteristic myocardial ultrastructure of fetal NCCM. We examined nine cases of fetal NCCM by prenatal echocardiography from 2004 to 2013. These cases were evaluated with respect to prenatal diagnosis, outcomes, pathology, and characteristics of the myocardial ultrastructure. Trabeculated myocardium and non-compaction/compaction ratio (N/C ratio) ≥2.0 is the echocardiographic feature that allowed diagnosis. Among the nine fetuses with a prenatal diagnosis of NCCM, six were diagnosed with left ventricular non-compaction (LVNC), two with non-compaction of both ventricles (biventricular NCCM), and one with right ventricular non-compaction. Among the nine fetuses, the LVNC diagnosis was confirmed by postnatal echocardiography in 2; the other patients chose to terminate their pregnancies, and those cases were confirmed at autopsy. Muscle biopsies were performed on three of the aborted fetuses, and abnormal mitochondria, sarcomeres, and myocardial fibers were observed. Non-compaction can be identified in the fetus. Fetal non-compaction most often involves the left ventricle, but can involve the right ventricle or both ventricles. The myocardial ultrastructure of fetal ventricular non-compaction has certain unique characteristics regarding the maturation of the mitochondria, sarcomeres, and myocardial fibers. © 2014 John Wiley & Sons, Ltd.

The Symptom Complex of Familial Sinus Node Dysfunction and Myocardial Noncompaction Is Associated With Mutations in the HCN4 Channel

BackgroundInherited arrhythmias were originally considered isolated electrical defects. There is growing evidence that ion channel dysfunction also contributes to myocardial disorders, but genetic overlap has not been reported for sinus node dysfunction (SND) and noncompaction cardiomyopathy (NCCM). ObjectivesThe study sought to investigate a familial electromechanical disorder characterized by SND and NCCM, and to identify the underlying genetic basis. MethodsThe index family and a cohort of unrelated probands with sinus bradycardia were examined by electrocardiography, Holter recording, exercise stress test, echocardiography, and/or cardiac magnetic resonance imaging. Targeted next-generation and direct sequencing were used for candidate gene analysis and mutation scanning. Ion channels were expressed in HEK293 cells and studied using patch-clamp recordings. ResultsSND and biventricular NCCM were diagnosed in multiple members of a German family. Segregation analysis suggested autosomal-dominant inheritance of the combined phenotype. When looking for potentially disease-causing gene variants with cosegregation, a novel hyperpolarization-activated cyclic nucleotide channel 4 (HCN4)-G482R mutation and a common cysteine and glycine-rich protein 3 (CSRP3)-W4R variant were identified. HCN4-G482R is located in the highly conserved channel pore domain. Mutant subunits were nonfunctional and exerted dominant-negative effects on wild-type current. CSRP3-W4R has previously been linked to dilated and hypertrophic cardiomyopathy, but was also found in healthy subjects. Moreover, different truncation (695X) and missense (P883R) HCN4 mutations segregated with a similar combined phenotype in an additional, unrelated family and a single unrelated proband respectively, which both lacked CSRP3-W4R. ConclusionsThe symptom complex of SND and NCCM is associated with heritable HCN4 defects. The NCCM phenotype may be aggravated by a common CSRP3 variant in one of the families.

A rare case of biventricular non-compaction cardiomyopathy associated with ventricular septal defect and atrial septal aneurysm

A 35 year-old woman with a restrictive ventricular septal defect and an atrial septal aneurysm was admitted to our clinic. The patient reported mildly limited physical activity and palpitations. Transthoracic echocardiography showed an enlarged left ventricle and left atrium. The size of the right heart cavities was normal. The structure of both ventricle walls revealed a compact epicardial layer and an

Biventricular Noncompaction Cardiomyopathy in a Patient Presenting with New Onset Seizure: Case Report

Ventricular noncompaction (VNC) of the myocardium is a rare genetic cardiomyopathy caused by a disorder during endocardial morphogenesis and could be accompanied by life-threatening complications. The major clinical manifestations of VNC are heart failure, arrhythmias, and embolic events. The left ventricle is the most commonly reported affected site, but a few cases of right ventricular involvement have also been reported. We report a case of biventricular noncompaction cardiomyopathy in a 31-year-old woman presenting with a new onset seizure. On the second day of her telemetry-monitored hospitalization, she suffered a witnessed ventricular fibrillation arrest requiring emergency direct-current cardioversion and induced hypothermia. Transthoracic echocardiography (TTE) showed isolated left ventricular (LV) noncompaction and depressed LV systolic function. Subsequent cardiac magnetic resonance imaging (MRI) revealed both left and right ventricular noncompaction. This unusual presentation highlights the importance of a complete and thorough evaluation of patients even when presenting with apparently noncardiac symptom(s).

Atrial Right-to-left Shunt without Pulmonary Hypertension in a Patient with Biventricular Non-compaction Cardiomyopathy Accompanied by Ventricular and Atrial Septal Defects

Echocardiography and magnetic resonance imaging revealed biventricular non-compaction cardiomyopathy with ventricular (VSD) and atrial (ASD) septal defects in an unconscious, 23-year-old hypoxemic man. Doppler echocardiography showed a left-to-right shunt across the VSD and a right-to-left shunt across the ASD. Cardiac catheterization revealed elevated right atrial pressure, although pulmonary pressure was normal. We considered that the atrial right-to-left shunt had induced the hypoxemia, which was related mainly to right ventricular dysfunction in this biventricular non-compaction cardiomyopathy, but it was not related to pulmonary hypertension.

Diagnosis of biventricular non-compaction cardiomyopathy by real-time three-dimensional echocardiography

Non-compaction of the ventricular myocardium is a recently recognized rare disorder of the endomyocardial morphogenesis. The disease can be characterized by systolic and diastolic heart failure, ventricular arrhythmias and systemic embolization. The present case suggests the clinical role of real-time three-dimensional echocardiography in the spatial evaluation of both ventricles in suspected biventricular non-compaction cardiomyopathy.

Three-year follow-up with cardiac magnetic resonance in a patient with biventricular non-compaction cardiomyopathy

A 25 year-old male patient symptomatic for heart palpitations underwent cardiovascular magnetic resonance (CMR) examination. CMR showed ventricular non-compaction cardiomyopathy involving both left and right ventricle. Patient started therapy with beta-blockers with a marked reduction in symptoms. During a three-year follow-up, the patient remained asymptomatic and in a second CMR examination, in 2006, showed no substantial variations in cardiac function.