Left ventricular non-compaction in a child with bicuspid aortic valve and aortic coarctation.

We present the case of a 3-year-old boy with bicuspid aortic valve, aortic coarctation, and left ventricular non-compaction. The diagnosis was made post-natally with ultrasonography and was verified by cardiac MRI. Aortic coarctation was initially repaired surgically. At age 3 months, recoarctation and heart failure developed. Balloon angioplasty was performed with immediate improvement. At age 3 years, the patient remains asymptomatic and normotensive.

Comparison of cardiovascular magnetic resonance characteristics and clinical consequences in children and adolescents with isolated left ventricular non-compaction with and without late gadolinium enhancement.

BACKGROUND: Although cardiovascular magnetic resonance (CMR) is showing increasingly diagnostic potential in left ventricular non-compaction (LVNC), relatively little research relevant to CMR is conducted in children with LVNC. This study was performed to characterize and compare CMR features and clinical outcomes in children with LVNC with and without late gadolinium enhancement (LGE). METHODS: A cohort of 40 consecutive children (age, 13.7 ± 3.3 years; 29 boys and 11 girls) with isolated LVNC underwent a baseline CMR scan with subsequent clinical follow-up. Short-axis cine images were used to calculate left ventricular (LV) ejection fraction (EF), end-diastolic volume (EDV), end-systolic volume (ESV), myocardial mass, ratio of non-compacted-to-compacted myocardial thickness (NC/C ratio), and number of non-compacted segments. The LGE images were analyzed to assess visually presence and patterns of LGE. The primary end point was a composite of cardiac death and heart transplantation. RESULTS: The LGE was present in 10 (25%) children, and 46 (27%) segments were involved, including 23 non-compacted segments and 23 normal segments. Compared with LGE- cohort, LGE+ cohort had significantly lower LVEF (23.8 ± 10.7% vs. 42.9 ± 16.7%, p < 0.001) and greater LVEDV (169.2 ± 65.1 vs. 118.2 ± 48.9 mL/m2, p = 0.010), LVESV (131.3 ± 55.5 vs. 73.3 ± 46.7 mL/m2, p = 0.002), and sphericity indices (0.75 ± 0.19 vs. 0.60 ± 0.20, p = 0.045). There were no differences in terms of number and distribution of non-compacted segments, NC/C ratio, and myocardial mass index between LGE+ and LGE- cohort. In the LGE+ cohort, adverse events occurred in 6 patients compared to 2 events in the LGE- cohort. Kaplan-Meier analysis showed a significant difference in outcome between LGE+ and LGE- cohort for cardiac death and heart transplantation (p = 0.011). CONCLUSIONS: The LGE was present in up to one-fourth of children with LVNC, and the LGE+ children exhibited a more maladaptive LV remodeling and a higher incidence of cardiovascular death and heart transplantation.

Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy.

We report on two prenatal ultrasound diagnoses of left ventricular non-compaction cardiomyopathy (LVNC) associated with mutation of the cardiac ß-myosin heavy chain gene (MYH7). LVNC is characterized by a trabecular meshwork and deep intertrabecular myocardial recesses communicating with the left ventricular cavity. Clinical features range from non-penetrant disease in adult carriers to heart failure, arrhythmia and thromboembolism. Both cases showed cardiomegaly on prenatal ultrasound examinations, with features indicating non-compaction of the myocardium apparent in the third trimester. Mutations in the MYH7 gene were identified postnatally in each case in both the proband and the father. One infant underwent surgical mitral valvuloplasty and a mechanical valve implant later; in the other, left ventricular function was unimpaired at birth. Cardiac function in both cases remained stable at last follow-up. These cases highlight the importance of prenatal ultrasound diagnosis of LVNC and the need for cardiologic and molecular testing of first-degree relatives who may be unknown carriers of an MYH7 mutation.

Complete atrioventricular block as the first manifestation of noncompaction of the ventricular myocardium.

Noncompaction of ventricular myocardium (NVM) is a rare cardiomyopathy, most probably caused by disturbances in embryonic morphogenesis of the myocytes, resulting in prominent trabeculations in the ventricular myocardium. Several diagnostic criteria have been proposed by echocardiography, and its association with other heart diseases is common. Its mortality is closely related to ventricular dysfunction, cardiac arrhythmias, and cardioembolic events. We report here a case of occurrence of atrioventricular block with syncope as the clinical manifestation of NVM. A brief review of the literature on morphological features, diagnosis, prognosis, and treatment will also be discussed.

Suppression of storms of ventricular tachycardia by epicardial ablation of isolated delayed potential in noncompaction cardiomyopathy.

A 65-year-old recipient of an implantable cardioverter defibrillator suffering from ventricular noncompaction developed storms of ventricular tachycardia (VT). Epicardial voltage mapping revealed the presence of a large low-voltage area in the left ventricular apical and inferoposterior wall, and isolated delayed potential was recorded over 1.5 cm in the posterior border between low and normal myocardial voltage. Pacemapping at the delayed potential recording site produced two different QRS depending on pacing output strength, and these two QRS morphologies were similar to clinically documented VTs. During one of the VTs, a mid-diastolic potential was recorded from the site with the delayed potential, and rapid pacing produced concealed entrainment. After epicardial radiofrequency ablation of the isolated delayed potential, VTs were noninducible and the VT storm was suppressed.

Successful implantation of an intracardiac defibrillator in an infant with long QT syndrome and isolated noncompaction of the ventricular myocardium.

Congenital long QT syndrome (LQTS) is an inherited disorder characterized by QT prolongation and polymorphic ventricular tachycardia known as torsade de pointes. The underlying cellular mechanism is prolonged ventricular repolarization caused by mutations in genes encoding cardiac ion channels or membrane adaptors. The disease can be diagnosed at any age and, very rarely, it can be diagnosed prenatally or in the neonatal period. Isolated noncompaction of the ventricular myocardium (INCVM) is defined as the presence of prominent ventricular trabeculations and deep intertrabecular recesses within the endomyocardium. This report describes a newborn baby presenting with polymorphic ventricular tachycardia whose diagnosis was LQTS and INCVM. Ventricular tachycardia did not respond to medical treatment, and a transient epicardial pacemaker was inserted surgically on his 30th day of life for atrioventricular block and bradycardia. The transient epicardial pacemaker was upgraded to an epicardial intracardiac defibrillator on his 40th day. The concomitant occurrence of INCVM, LQTS, and atrioventricular block needs to be evaluated further.

Left ventricular noncompaction complicated by mitral valve prolapse: report of a case.

A 31-year-old male was diagnosed with congestive heart failure due to left ventricular noncompaction and coarctation of the aorta by echocardiography and computed tomography. He also developed mitral valve prolapse of the posteromedial commissural leaflet due to rupture of chordae tendineae. Segmental leaflet resection was performed with ring annuloplasty. Aorto-bifemoral bypass was carried out simultaneously to attenuate the ventricular afterload. His postoperative course was uneventful.

Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation.

Barth syndrome (BTHS) is associated with myocardial disease, frequently left ventricular noncompaction cardiomyopathy, which may necessitate cardiac transplantation or lead to death in some patients. We report a child with BTHS who had an "undulating cardiac phenotype" and ultimately developed decompensated heart failure requiring mechanical circulatory support with a ventricular assist device as a bridge to transplantation. His course was complicated by acute lung injury requiring placement of an in-line oxygenator to maintain end-organ function. Not only was his course complicated by cardiac and respiratory failure but his BTHS associated comorbidities complicated the management of his therapy using mechanical assist device support. He was successfully supported and subsequently was transplanted. Here we discuss the management of a child with BTHS using mechanical circulatory support and describe the use of an in-line oxygenator, Quadrox, with the Berlin Excor device.

Complex aortic coarctation, regurgitant bicuspid aortic valve with VSD and ventricular non-compaction: a challenging combination.

Left ventricular non-compaction is a myocardial disorder characterized by excessive trabeculations and deep recesses that communicate with the ventricular cavity, which is thought to result from a failure of the trabecular regression that occurs during normal embryonic development. It carries a high mortality from heart failure or sudden cardiac death. A 15-year-old female patient was referred to our institution for moderate symptoms of heart failure. Echocardiography and MRI showed a bicuspid aortic valve with severe regurgitation, subaortic VSD, dilated left ventricle and left ventricular non-compaction with a moderately decreased ejection fraction, as well as isthmic coarctation and transverse arch hypoplasia. We elected to perform transaortic VSD closure and aortic valve replacement using a mechanical prosthetic valve on an arrested heart, and to address aortic coarctation and transverse arch hypoplasia using an extra-anatomic ascending-to-descending aorta bypass. Aortic cross-clamping was limited to 41 minutes. The postoperative recovery was rapid and the girl was discharged in NYHA class I with an estimated LVEF of 39%. Although management must be individualized, extra-anatomic bypass is a good single-stage approach for patients with complex coarctation and concomitant cardiovascular or myocardial disorders, reducing ischemic time and offering a better chance of successful weaning from cardiopulmonary bypass.

An unusual case of congenitally corrected transposition of the great arteries associated with noncompaction-like remodeling of the morphological right ventricle.

Congenitally corrected transposition of the great arteries is a rare disease characterized by atrio-ventricular and ventriculo-arterial discordance (double discordance) and is associated with other cardiac anomalies in the majority of cases. The important associated anomalies include ventricular septal defect, abnormalities of left atrioventricular valve, subpulmonary stenosis, and conduction abnormalities. However, the noncompaction-like remodeling of the subaortic, morphologic right ventricle is not a commonly reported association. We, report a case of congenitally corrected transposition of the great arteries in a 40-year-old male patient, who had noncompaction-like remodeling of the morphologic right ventricle with severe ventricular dysfunction. He also had, left-sided Ebstein's anomaly, severe left atrioventricular valve regurgitation and a 2:1 atrioventricular conduction block.

Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease.

We present a case of ectopia cordis with a complex single-ventricle congenital heart defect in association with pentalogy of Cantrell. Management by a skilled multidisciplinary team was critical for patient survival. Early fetal diagnosis and the use of advanced imaging techniques allowed adequate time for planning and identified critical anatomic details. Preserving the heart's natural covering, performing cardiac surgery without cardiopulmonary bypass, and using catheter intervention decreased the risk to the patient. Complete coverage of the defect was achieved using skin generated with tissue expanders. This case illustrates the importance of collaboration when caring for infants with critical, high-risk disease and highlights the increased potential for survival with complex ectopia cordis in the current medical era.

Isolation of pulmonary vein and superior vena cava for paroxysmal atrial fibrillation in a young adult with left ventricular non-compaction.

We report a 19-year-old male patient with left ventricular non-compaction who presented with atrial fibrillation (AF) and ventricular tachycardia. Ventricular tachycardia was induced by AF with rapid ventricular response, but was prevented by electrical isolation of the pulmonary veins and superior vena cava.

Effect of Noncompacted Myocardial Resection on Isolated Left Ventricular Noncompaction.

Isolated left ventricular noncompaction, where broad trabeculae and deep intertrabecular recesses are observed in the left ventricular myocardium resulting from an arrest in normal embryogenesis, is a rare cardiomyopathy. We present a report on isolated trabeculectomy and postoperative echocardiographic follow-up showing recovery of cardiac function for isolated left ventricular noncompaction.

Congenital left ventricular aneurysm with myocardial noncompaction pattern.

Congenital left ventricular aneurysm or diverticulum is very rare. Most congenital left ventricular aneurysms are asymptomatic but some cause systemic embolization, left ventricular free wall rupture, or ventricular arrhythmias causing sudden cardiac death. A 29-year-old woman with congenital left ventricular aneurysm and nonsustained ventricular tachycardia underwent surgical plication of the aneurysm with left ventricular reshaping to improve heart failure symptoms, prevent rupture of the aneurysm wall and the possibility of thrombus formation, and excise the fibrotic tissue of the left ventricular aneurysm, which could be a trigger for left ventricular aneurysm arrhythmias. The postoperative course was unremarkable.

Aortic valve replacement in noncompaction cardiomyopathy at two-year follow-up.

We report a male patient suffering left ventricular noncompaction cardiomyopathy in combination with low-gradient aortic stenosis. Preoperative echocardiography and magnetic resonance imaging revealed the diagnosis. After aortic valve replacement, the clinical course was uneventful. Two years of follow-up confirmed that the general prognosis was primarily affected by impaired ventricular function, thrombembolism, and arrhythmias.

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.

Titin-truncating variants are associated with heart failure events in patients with left ventricular non-compaction cardiomyopathy.

BACKGROUND: Titin-truncating variants (TTNtv) have been recognized as the most prevalent genetic cause of dilated cardiomyopathy. However, their effects on phenotypes of left ventricular non-compaction cardiomyopathy (LVNC) remain largely unknown. HYPOTHESIS: The presence of TTNtv may have an effect on the phenotype of LVNC. METHODS: TTN was comprehensively screened by targeted sequencing in a cohort of 83 adult patients with LVNC. Baseline and follow-up data of all participants were collected. The primary endpoint was a composite of death and heart transplantation. The secondary endpoint was heart failure (HF) events, a composite of HF-related death, heart transplantation, and HF hospitalization. RESULTS: Overall, 13 TTNtv were identified in 13 patients, with 9 TTNtv located in the A-band of titin. There was no significant difference in baseline characteristics between patients with and without TTNtv. During a median follow-up of 4.4 years, no significant difference in death and heart transplantation between the two groups was observed. However, more HF events occurred in TTNtv carriers than in non-carriers (P = 0.006). Multivariable analyses showed that TTNtv were associated with an increased risk of HF events independent of sex, age, and baseline cardiac function (hazard ratio: 3.25, 95% confidence interval: 1.50-7.01, P = 0.003). Sensitivity analysis excluding non-A-band TTNtv yielded similar results, but with less strength. CONCLUSIONS: The presence of TTNtv may be a genetic modifier of LVNC and confer a higher risk of HF events among adult patients. Studies of larger cohorts are needed to confirm our findings.

[Heart transplantation for the treatment of isolated left ventricular myocardial noncompaction. First case in Mexico]. / Trasplante cardiaco: una opción para tratamiento del miocardio no compactado aislado de ventrículo izquierdo. Primer caso en México.

BACKGROUND: Myocardial noncompaction of the left ventricle is a congenital cardiomyopathy characterised by left ventricular hypertrabeculation and prominent intertrabecular recesses. The incidence ranges from 0.15% to 2.2%. Clinical manifestations include heart failure, arrhythmias, and stroke. Prognosis is fatal in most cases. Heart transplantation is a therapeutic option for this cardiomyopathy, and few had been made worldwide. CLINICAL CASE: The case is presented of a 20 year-old male with noncompacted myocardium of the left ventricle, who had clinical signs of heart failure. His functional class was IV on the New York Heart Association scale. He was successfully transplanted. Its survival to 15 months is optimal in class I New York Heart Association, and endomyocardial biopsies have been reported without evidence of acute rejection. CONCLUSION: It is concluded that heart transplantation modified the natural history and improved survival in patients with this congenital heart disease.