Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection. DIAGNOSIS: Homozygous FH (HoFH), CHD, and IHF. INTERVENTIONS: The patient has been treated with statin, ezetimibe, aspirin, and traditional heart failure (HF) medications. In addition, the beta-blocker was simultaneously administered. OUTCOMES: Genotypes of this proband indicated homozygous mutations of low-density lipoprotein receptor (LDLR) and some co-segregated mutations, such as von Willebrand factor (VWF) and fibroblast growth factor receptors. At 6-month follow-up, we found a decreased level of plasma lipid profile, in addition to a significant improvement in 6-minute walk distance and functional class. Echocardiography indicated nonsignificant improvements in the structure and function of the heart. LESSONS: This case report indicates that HoFH can lead to dramatically progressive endothelial damages and ventricular remodeling, severe atherosclerosis, even IHF. Genetic outcomes indicate IHF with HoFH could possibly result from LDLR mutations and some co-segregated mutations influencing endothelial function and cardiovascular remodeling. In a short-term follow-up, a combination of statins, ezetimibe, aspirin, and traditional HF agents is safe and effective for IHF with HoFH, and there is a need for further identification of drugs to ameliorate endothelial function and cardiovascular remodeling which may play an important role in long-term treatment.

Vascular endothelial growth factor-a in lactobacillus casei cell wall extract-induced coronary arteritis of a murine model.

BACKGROUND: Vascular endothelial growth factor (VEGF) is associated with Kawasaki disease (KD), the most commonly acquired heart disease in developed countries. This study investigated the involvement of VEGF-A expression and its related signaling pathway in Lactobacillus casei cell wall extract (LCWE)-induced murine coronary artery lesions (CALs), and analyzed this in regard to the inhibition of CALs by spleen tyrosine kinase (Syk). METHODS AND RESULTS: Wild-type BALB/C mice were intraperitoneally injected with LCWE (1mg/ml) to induce CALs. The aortic roots, ventricular myocardium, peripheral blood leukocytes (PBLs), spleen, liver, kidneys, and lungs were analyzed for VEGF-A expression. Phosphate buffered saline (PBS)-, lipopolysaccharide (LPS)-, and zymosan-treated mice served as controls, and an oral Syk inhibitor served as an arteritis-ameliorated reagent. In aortic roots and PBLs, LCWE induced an early upregulation and a late downregulation of VEGF-A expression. No differential VEGF-A expression was observed in the other organs. Most importantly, Syk inhibition significantly attenuated the LCWE-induced expression of VEGF-A, dimethylarginine dimethylaminohydrolase (DDAH)-1, and endothelial nitric oxide synthase in aortic roots. However, LCWE-induced aortic DDAH-2 expression remained higher, despite Syk inhibition. CONCLUSIONS: Local VEGF-A and its signaling pathway are associated with the development of LCWE-induced CALs. Therefore, the clinical correlation between VEGF and human KD and the role of the VEGF-A regulation and signaling pathway in murine CALs warrant further investigation.

Management of an unusual left coronary artery to right ventricular fistula in a neonate.

Congenital coronary arterial fistula is a rare cause of congestive heart failure in neonates. We describe a neonate who developed early symptoms because of an unusually large left coronary artery to right ventricular fistula. Computed tomography and coronary angiography delineated anatomy and facilitated successful surgical closure.

Giant congenital fistula of the circumflex coronary artery with drainage into right atrium.

A dilated and tortuous fistula from circumflex coronary artery draining into the right atrium was diagnosed by transthoracic echocardiography and selective angiography in a 64-year old female. Transcatheter closure was excluded by the cardiologist because of the presence of a large huge at the drainage site so the patient was scheduled for surgical ligation. Intraoperative and postoperative controls were performed by echocardiography. The Authors discuss on differential diagnosis, indications and types of treatment in all cases presenting coronary artery fistula.

Atresia congênita do tronco da coronária esquerda em adulto jovem: rasa e potencialmente fatal anomalia coronária / Congenital atresia of the left main coronary artery in a young adult: a rare and potentially fatal coronary anomaly

Relato do caso de paciente do sexo masculino, 35 anos de idade, com atresia congênita do tronco da artéria coronária esquerda, afecção extremamente rara e com poucos casos descritos na literatura. Nessa afecção, o óstio da coronária esquerda está ausente, o tronco da coronária esquerda termina em fundo cego e o fluxo sanguíneo se dá da coronária direita para a esquerda por pequenas artérias colaterais e retrogradamente. O diagnóstico diferencial envolve outras malformações congênitas (artéria coronária direita única e origem anômala da artéria coronária esquerda do tronco da artéria pulmonar) e doença aterosclerótica adquirida do tronco da coronária esquerda.

We report the case of a 35-year-old male patient with congenital atresia of the left main coronary artery, a raredisease with few cases reported in the literature. In this anomaly, the left coronary ostium is absent, the proximalleft main trunk ends blindly and blood flow is retrograde from the right to the left coronary artery by small collateralarteries. Differential diagnosis includes other congenital malformations (single right coronary artery and anomalousorigin of the left coronary artery from the pulmonary artery) and acquired atherosclerotic disease of the left main coronary artery.

Neonatal closure of a large coronary-cameral fistula in a case of single coronary artery: the utility of intraoperative angiography.

Isolated coronary artery fistula in the newborn is a very rare congenital anomaly. When symptomatic, treatment options include surgical management with ligation and/or patch closure or transcatheter coil embolization. We describe the case of a newborn with symptomatic left coronary-right ventricular fistula, which was managed operatively with off-pump ligation and on-table angiogram for confirmation of fistula obliteration and normal distribution of flow in the coronary artery. We point out the advantages of on-table angiography to evaluate and potentially treat residual structural pathology after cardiac surgery.

Evaluation of a coronary-cameral fistula: benefits of coronary dual-source MDCT angiography in children.

We describe the use of a dual-source 64-channel multidetector array CT (MDCT) scanner in the evaluation of a coronary-cameral fistula in a 10-month-old boy. Echocardiography, cardiac catheterization, and MRI are modalities often used to evaluate congenital and other pediatric heart diseases. Radiation dose concerns and the absence of established protocols are factors that have potentially limited the use of CT for work-up in these young children. We present a case in which recent advances in technology allowed effective low-dose diagnostic quality coronary MDCT angiography in an infant.

[The saccular coronary aneurysm associated with coronary artery to pulmonary artery fistulae].

Coronary artery fistulae are relatively rare congenital anomalies. Those associated with saccular coronary artery aneurysms are even rarer. Including the current case, only 65 such cases have been reported in Japan. A 62-year-old female was admitted to our hospital for evaluation of abnormal shadow on the chest X-ray. The enhanced chest computed tomography (CT) scan demonstrated a giant saccular coronary aneurysm on the left side of the pulmonary artery. Multi-detector row CT (MDCT) scan demonstrated the coronary artery aneurysm was connected to the left anterior descending artery. Coronary angiography revealed 2 aneurysms with bilateral coronary artery to pulmonary artery fistulae. The patient underwent aneurysmectomy and ligation of fistulae under cardiopulomonary bypass. The postoperative course was uneventful and postoperative coronary angiography revealed complete resection of the aneurysms and only slight blood flow through the fistulae. She was discharged on the 10th postoperative day.

Origen anómalo de la arteria coronaria izquierda originándose de la arteria pulmonar. Reporte de caso y revisión de literatura / Anomalous origin of the left coronary artery originating itself of the pulmonary artery. Report of case and revision of literature

Se presenta el caso de un lactante de 2 meses de edad que consultó por tos y dificultad respiratoria; al ser admitido en el servicio de urgencias, el abordaje inicial fue de una infección respiratoria baja (bronquitis) pero la evolución tórpida y la presencia de cardiomegalia hizo sospechar una cardiopatía, diagnosticándose origen anómalo de la arteria coronaria izquierda que nace de la arteria pulmonar, la cual fue tratada quirúrgicamente con resultado favorable.

Dutch survey of congenital coronary artery fistulas in adults: coronary artery-left ventricular multiple micro-fistulas multi-center observational survey in the Netherlands.

BACKGROUND: Congenital coronary artery-left ventricular multiple micro-fistulas (CA-LVMMFs) in adults are rare anomalies. They may cause angina pectoris and myocardial infarction in association with normal coronary arteries. METHODS AND RESULTS: From the medical databases of a Dutch Survey of coronary artery fistulas in adult cardiology population (30,829 patients), we identified 20 patients with CA-LVMMFs out of 71 fistula-subjects between 1996 and 2003. Clinical files and individual coronary angiograms were reviewed and analysed. There were 13 females and 7 males with a mean age of 67.3 years (range 49-82). The main presenting symptoms were angina pectoris and dyspnea in 70% of the patients. The ECG showed pathologic changes in 75%. Exercise tolerance test and 201-thallium stress scintigraphy were positive for myocardial ischemia in 29% and 50%, respectively of the tested patients. In the absence of significant atherosclerotic coronary artery disease, ipsilateral to the fistulas, myocardial infarction was documented in 15% of the patients. Chest X-ray revealed cardiomegaly in 38% of the patients. Congestive heart failure was documented in 10% of the patients. Uni-, bi- and multilateral fistulas were present in 50%, 45% and 5%, respectively. The origin was the LCA in 71% and the RCA in 29% of the fistulas. The majority (97%) originated from the mid or distal segments of the coronary vessels. Among those patients, the coronary arterial tree had single, dual, and triple vessel disease in 25%, 15% and 5%, respectively. Angiographic anatomy precludes surgical intervention; they were all followed by conservative medical management. CONCLUSIONS: Coronary artery-left ventricular multiple micro-fistulas are found more often in female patients. Furthermore, they originated from the distal segment of the coronary arteries. Coronary artery-left ventricular multiple micro-fistulas, in the presence of normal coronary arterial tree, may often lead to angina pectoris and coronary insufficiency.

Dutch survey of coronary artery fistulas in adults: congenital solitary fistulas.

AIMS: Congenital coronary artery fistulas are frequently identified in adult and pediatric populations and they have been associated with various clinical and morphological features. The purpose of this study was to define the clinical and coronary angiographic morphological characteristics of adult patients with congenital solitary CAFs in the Dutch Registry. METHODS AND RESULTS: Fifty-one patients with angiographically documented CAFs were reviewed for clinical evaluation, used non-invasive and invasive diagnostic tools and treatment modalities. Unilateral CAFs were predominant (80%) and 84% of the patients were symptomatic. The most common presenting symptom was angina pectoris (57%). Angina pectoris was present in a quarter of the patients in the absence of coronary artery disease (CAD). Significant CAD was present in 49% of the patients. Twenty-nine percent of the CAFs showed aneurysmal formation, underlying their potential hazard of rupture. Myocardial infarction occurred in 18% of the patients. In 27% of CAFs multiplicity of the origin was found and nearly all fistulas were tortuous (97%). Treatment modalities were conservative medical in 70%, percutaneous transluminal embolisation in 5% and surgical ligation in 25% of the cases. Multiple micro-fistulas from the coronary arteries to the left ventricle were excluded from the study. CONCLUSION: In this national survey series, congenital solitary CAFs can be presented with typical angina pectoris in the absence of obstructive CAD. Fistula-related coronary artery was infrequently involved in the development of ipsilateral myocardial infarction. Tortuousity and multiplicity of the CAFs may determine, for the individual patient, the choice of the currently available treatment modalities.

Congenital circumflex coronary arteriovenous fistula with aneurysmal termination in the pulmonary artery.

Coronary arteriovenous fistula is a rare congenital anomaly that is seen in 0.1 % to 0.2% of coronary angiograms. Aneurysmal formation in the fistula is even rarer. We report a case of congenital circumflex arteriovenous fistula with aneurysmal formation just near its termination in the pulmonary artery, associated with atherosclerotic left anterior descending coronary artery. The anomaly was successfully repaired.

Retrograde transcatheter coil embolization of congenital coronary artery fistulas in infants and young children.

We report the success of transcatheter coil embolization of congenital coronary artery fistulas in infants and young children, primarily using a retrograde coaxial delivery system. Transcatheter coil embolization of coronary artery fistulas has been used successfully in the adult population with limited reports in the pediatric population, especially in infants. Ten patients underwent transcatheter coil embolization of congenital coronary artery fistulas between January 1993 and August 1999. The median age was 4.5 years (ranging from 5 weeks to 9.8 years). Coils were delivered exclusively using a retrograde arterial approach in 8 of 10 patients. A coaxial system was used in 8 patients. Angiography immediately after placement of coils revealed no residual shunt in any patient. Recent follow-up evaluation is available for 9 patients (median duration of follow-up, 7.9 months). Echocardiographic and clinical evaluations show complete occlusion in 8 of 9 patients. All patients are asymptomatic with normalization of chamber dimensions and coronary artery caliber. Transcatheter coil embolization of congenital coronary artery fistulas can be performed safely and successfully in infants and young children. The use of a retrograde approach and coaxial system is safe and effective and may provide better accuracy, stability and precision for placement of coils.

Congenital coronary artery dilatation.

Although dilated coronary arteries are uncommon in children, three cases are presented which, even more unusually, were not associated with Kawasaki's disease

[Surgical treatment of coronary artery-pulmonary artery fistula with coronary aneurysm].

We experienced 4 cases of coronary artery-pulmonary artery fistula with coronary aneurysm, three patients had symptoms of chest pain, and 1 patient had cardiac murmur. Coronary arteriography showed that three patients had fistulas from the left coronary artery to the pulmonary artery; and that 1 patient had a fistula from both the right and left coronary arteries to the pulmonary artery. Moreover, 1 patient had 90% diameter stenosis of segment 7. The maximum diameter of the coronary aneurysm ranged from 12 to 20 mm (average: 15.3 mm). One patient underwent closure of the opening of the fistula, 2 patients underwent multiple ligatures of fistulas, and 1 patient underwent multiple ligatures of fistulas with coronary artery bypass grafting. The postoperative course of every patient was uneventful. There have been 42 reports on this abnormality in Japan. We should treat the fistula as early as possible to prevent cardiac complications such as myocardial ischemia and rupture of coronary aneurysm.