ABSTRACT
Background: Louis-Dietz syndrome (LDS) Type 3 is a rare disorder caused by an autosomal-dominant mutation in SMAD-3, altering the TGF-β pathway. LDS Type 3 typically manifests as aortic aneurysms and early-onset osteoarthritis, however other dermatologic, cardiovascular, and skeletal abnormalities have been reported. Case: A 51-year-old woman was referred to the cardiology clinic for episodes of palpitations, syncope, chest pain, and shortness of breath during the COVID-19 pandemic. She had a history of congestive heart failure, cardiomyopathy, patent foramen ovale, atrial septal aneurysm, pre-COVID myocarditis, mitral valve prolapse, mitral regurgitation, and pericarditis. She also has a pertinent medical history of hypermobile Ehlers-Danlos syndrome (hEDS) and systemic lupus erythematosus (SLE). Her family and social history were remarkable for a daughter with SLE. Cardiopulmonary and general physical exams were remarkable for hypermobility. Evaluation with an ECG and Holter monitor showed normal sinus rhythm with unifocal premature ventricular contractions (PVCs) that correlated with her symptoms. Decision-making: The patient was initially managed un-successfully with beta and calcium channel blockers. Cardiac ablation was subsequently performed on a left ventricular septal focus with remote magnetic navigation using the Niobe system from Stereotaxis inc. (due to its low risk for cardiac perforation). At 6 months follow up, the patient exhibited an increase in left ventricular ejection fraction from 40-50% to 55-60%, fewer symptoms, and fewer PVCs. She was later diagnosed with a right internal carotid artery aneurysm that prompted genetic testing that was positive for LDS Type 3. Conclusion: This patient’s unique combination of illnesses required a multidisciplinary team for management. The Stereotaxis robotic system safely and successfully treated the patient’s PVCs and resulted in improvement of left ventricular function. Due to previous reports of arrhythmias associated with these connective tissue disorders, additional studies are necessary to understand the role of the SMAD-3 mutation, EDS, and SLE in contributing to arrhythmogenicity.
ABSTRACT
Background: Arrhythmogenic cardiomyopathy (ACM) is a hereditary condition associated with VT and sudden cardiac death (SCD). Currently, only 50% of individuals diagnosed with ACM have identifiable gene variants. Case: A 55-year-old woman presented with rapid palpitations, and recurrent syncope and presyncope. Her past medical history included Ehlers-Danlos syndrome and spontaneous carotid artery dissection. Her family history included MI in her father and cardiac disorders - including SCD - in many non-first-degree relatives. Her ECG revealed sinus rhythm with RBBB and LAFB. Decision-making: Our team performed an EP study in which atrial fibrillation and two beats of AVNRT were induced, and an ILR was implanted. A 28 beat run of symptomatic VT at 166 bpm was detected during the COVID-19 pandemic when elective procedures were suspended. This prompted the use of a wearable defibrillator to prevent SCD. When elective procedures resumed, the patient underwent CTA (negative) and cardiac MRI revealing localized RV apical free wall akinesia and mild RV enlargement. The Mount Sinai Morningside EP team concluded the patient met the task force criteria for ACM (class IIa per HRS consensus) and recommended the use of an ICD which was implanted two days later. Additionally, genetic testing was performed and was negative for identifiable gene variants (Invitae Arrhythmogenic Cardiomyopathy Panel). Her three daughters also underwent EP studies and ILR implantations as a result of rSR’ patterns seen on their ECGs. The eldest daughter had 6 beats of VT and a cardiac MRI found diffuse cardiomyopathy (but not ACM), the youngest had SVT but no ACM, and the middle daughter had no arrhythmia/ACM. Workup and management are in progress and involve the same approach received by the incident patient. Conclusion: This case demonstrates that during a pandemic lockdown wearable defibrillators can be used as an effective bridge to definitive treatment of VT. It also illustrates that additional ACM gene mutations have yet to be discovered since a genetic component is likely involved in this pedigree. Close follow-up with the cardiac team will ensure safe and effective management of this potentially lethal, but treatable condition.