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Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

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Ventricular septal defect is the most common congenital heart disease in children and is associated with patent ductus arteriosus in 1%-7% of cases. The coexistence of both malformities with hypoplastic aortic arch and aortic coarctation is even rarer. We present the case of a 6-year-old girl referred to our hospital because of dyspnea on feeding, recurrent respiratory infections, poor weight gain, and a heart murmur. The image studies revealed a ventricular septal defect, patent ductus arteriosus, severe hypoplasia of the aortic arch with critical stenosis of the proximal portion, severe dilatation of the pulmonary artery and pulmonary, mitral, tricuspid, and aortic regurgitation. We will discuss the diagnostic approach and treatment in a tertiary reference center for patients with cardiovascular diseases.

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BACKGROUND: Cardiotoxicity is a recognized complication in breast cancer (BC) patients undergoing chemotherapy with anthracyclines with or without trastuzumab. However, the prognostic value of heart rate variability (HRV) indexes for early cardiotoxicity development remains unknown. METHODS: Fifty BC patients underwent TTE assessment before and three months after chemotherapy. HRV indexes were obtained from continuous electrocardiograms in supine position with spontaneous breathing, active standing, and supine position with controlled breathing. The magnitude of change (Δ) between supine-standing and supine-controlled breathing was calculated. Variables were compared using t-test or ANOVA. Cardiotoxicity predictive value was assessed by ROC curve analysis. A p value of < 0.05 was considered significant. RESULTS: TTE revealed reduced left atrial conduit strain in the cardiotoxicity group. Mean heart rate increased during all maneuvers at follow-up, with no differences in HRV indexes between patients with or without cardiotoxicity. However, a lower Δ in supine-controlled breathing of several HRV indexes predicted early cardiotoxicity identified by echocardiography (e.g. SDNN ≤ -8.44 ms: Sensitivity = 75%, Specificity = 69%). CONCLUSIONS: BC patients treated with chemotherapy maintain cardiac autonomic responses to physiological stimuli after 3 months of chemotherapy. However, a lower Δ during active standing and controlled breathing before chemotherapy may predict early cardiotoxicity.

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Arrhythmogenic cardiomyopathy is a biventricular disease in which the effect on the left ventricle can be either equivalent to or more severe than that on the right ventricle. It is a rare disease due to its low reported prevalence and typically becomes clinically evident during the second to fourth decade of life. It represents 4% of sudden cardiac death cases referred for autopsy and 10% of cases of unexplained cardiac arrest. We present a challenging case report of a 68-year-old man who arrived at the emergency room with chest discomfort, palpitations, and light-headedness before a syncopal episode with urinary incontinence. During monitoring, ventricular tachycardia was detected and was treated with cardioversion. However, a follow-up electrocardiogram revealed low QRS voltages in limb leads and T-wave inversion in the left precordial leads. The patient underwent a transthoracic echocardiogram and a gadolinium-based magnetic resonance imaging study to evaluate the possibility of acute decompensated heart failure. Both imaging studies revealed low ejection fraction and systolic dysfunction in both right and left ventricles. Furthermore, in the late gadolinium enhancement study, extensive left ventricular subepicardial enhancement with septal predominance in a ring pattern and an irregular morphology of the right ventricular free wall were observed. A diagnosis of biventricular arrhythmogenic cardiomyopathy was established based on the 2020 Padua Criteria. Although there is not a recognized classification within these criteria to establish its subtype, in our case there was a left ventricular predominance due to the presence of additional left ventricular categories.

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Bicuspid aortic valve is the most common congenital heart defect. Transthoracic echocardiogram is the initial tool to assess and diagnose this condition, however, transesophageal echocardiogram with 3D modalities, including transillumination have a better anatomical and functional evaluation of the valve, allowing to classify the bicuspid aortic valve according to the position of the raphe and assess the main vessels for complications or exclude other cardiovascular diseases.

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Marfan´s syndrome is a multisystemic, autosomal dominant congenital abnormality of variable penetrance that affects the integrity of connective tissue. In the cardiovascular system, the dysfunction of the physiology of the aortic root and the myocardial fibrosis originates non-ischemic cardiomyopathy independent of valve lesions. Few data have been reported on the prevalence of arrhythmias and its impact on heart function. We present a 21-year-old man with Marfan's syndrome and heart failure with frequent supraventricular arrhythmias and aortic root dilation. After ablation in the posteroseptal area of the mitral ring and Tirone David Surgery, there was clinical improvement, the left ventricular ejection fraction increased dramatically from 33% to 46%, the left ventricular end-diastolic volume decreased from 90 ml/m2 to 77 ml/m2 and the NT-proBNP decrease from 1100 pg/mL at 180 pg/mL.

El síndrome de Marfan es una anomalía congénita multisistémica, autosómica dominante y de penetrancia variable que afecta a la integridad del tejido conectivo. En el sistema cardiovascular, también se ha descrito la disfunción de la fisiología de la raíz aórtica y la fibrosis miocárdica que origina una miocardiopatía no isquémica independiente de las lesiones valvulares. Se han comunicado pocos datos sobre la prevalencia de arritmias y su repercusión en la función cardiaca. Presentamos el caso de un varón de 21 años con síndrome de Marfan e insuficiencia cardiaca con frecuentes arritmias supraventriculares y dilatación de la raíz aórtica. Después de la ablación en la zona posteroseptal del anillo mitral y la cirugía de Tirone David, hubo mejoría clínica, la fracción de eyección ventricular izquierda aumentó espectacularmente del 33 al 46%, el volumen telediastólico ventricular izquierdo disminuyó de 90 a 77 mL/m* y el NT-proBNP disminuyó de 1100 a 180 pg/mL.

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Abstract Objective: Associating comorbidities and cardiac symptoms that alter myocardial mechanical function could help clinicians to correctly identify at-risk population. Methods: We conducted a functional open population cross-sectional study of patients referred to a positron emission tomography/computed tomography unit in Mexico City for evaluation of myocardial function, perfusion, and coronary circulation. Ischemia was defined as a sum difference score ≥ 2. Association between comorbidities and cardiac symptoms was tested using logistic regression models and trend analysis. We performed an interaction analysis to evaluate the addition of any accompanying symptoms to comorbid conditions on impairment of myocardial function. Results: One thousand two hundred and seventy-three patients were enrolled, 66.1% male, with a mean age of 62.4 (± 12.7) years, 360 (28.7%) with ischemia, 925 (72.7%) with at least one comorbidity, and 676 (53.1%) had at least one associated cardiac symptom. Patients without ischemia, type 2 diabetes, arterial hypertension, and adverse cardiac symptoms were associated with adverse mechanical, perfusion, and coronary flow parameters. We observed a trend of a cumulative number of comorbidities and cardiac symptoms with increased ischemia and decreased coronary flow. Only in decreased left ventricular ejection fraction, we demonstrated an interaction effect between increased comorbidities and adverse symptoms. Conclusion: The high burden of comorbidities and symptoms in our population alters myocardial function regardless of the level of ischemia.

Resumen Objetivo: La asociación de comorbilidades y síntomas cardíacos que alteran la función miocárdica podría ayudar a los médicos a identificar correctamente a poblaciones de riesgo. Métodos: Se realizó un estudio transversal en población abierta de pacientes referidos a una unidad de PET/CT en la Ciudad de México para evaluación de la función miocárdica, perfusión y circulación coronaria. La isquemia se definió como una suma de diferencia de puntuación (SDS) ≥ 2. La asociación entre las comorbilidades y los síntomas cardíacos se fundamentó mediante modelos de regresión logística y análisis de tendencias. Realizamos un análisis de interacción para evaluar la adición de cualquier síntoma acompañante a condiciones comórbidas en el deterioro de la función miocárdica. Resultados: Se incluyeron 1.273 pacientes, 66,1% del sexo masculino, con una edad media de 62,4 (± 12.7) años, 360 (28,7%) con isquemia, 925 (72,7%) con al menos una comorbilidad y 676 (53,1%) con al menos una menos un síntoma cardíaco asociado. En pacientes sin isquemia, la diabetes mellitus tipo 2, la hipertensión arterial y los síntomas cardíacos adversos se asociaron con parámetros mecánicos, de perfusión y de flujo coronario adversos. Se observó una tendencia con el número acumulado de comorbilidades y síntomas cardíacos con aumento de la isquemia y disminución del flujo coronario. Solo en la disminución de la FEVI se demostró un efecto de interacción entre el aumento de las comorbilidades y los síntomas adversos. Conclusión: La alta carga de comorbilidades y síntomas en nuestra población altera la función miocárdica independientemente del nivel de isquemia.

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A 31-year-old man was referred to our hospital because of exertional dyspnea and palpitations. Cardiac examination revealed a systolic murmur in the pulmonic area. Owing to the suspicion of pulmonary stenosis, cardiac magnetic resonance was notable for apical hypertrophy of the right ventricle and mixed pulmonary stenosis. (Level of Difficulty: Intermediate.).