Patient case (clinical description): A 23-year-old man comes to the emergency department following an episode of syncope.  He was working out when he felt dizzy and passed out without head injury.  He has had 3 other episodes of light-headedness over the last year, all happening during physical activity. He never had this experience while resting. He has no other medical conditions.  The patient does not use tobacco, alcohol, or illicit drugs.  His father died suddenly at age 35.  Vital signs are within normal limits.  On physical examination, the patient has a harsh systolic murmur.  The lungs are clear with no peripheral edema. Echocardiography shows asymmetric interventricular septal hypertrophy.

Patient's own account: I'm 23, and I got admitted to the ER because I fainted all of a sudden. I was in the gym, working out, when all of a sudden, I just got dizzy and passed out. Hopefully, I didn't hit my head. It's not my first time having that kind of dizziness at the gym, never when I'm chilling at home tho. I don't have any special medical conditions and I'm not even smoking, drinking or doing drugs! My dad died suddenly when he was 35, so I'm kind of scared. My vitals were normal while at the ER and they did a physical exam and they told me my heart sounds abnormal. My lungs are ok, but I had to do an echography of my heart, and they told me it is bigger than average.

Clinical trial: Hypertrophic Regression With N-Acetylcysteine in HCM

Eligibility criteria:
Inclusion Criteria:

          -  Patients with primary cardiac hypertrophy, non-dilated LV cavity and preserved LV
             systolic function, hence, the diagnosis of HCM, who have at least an LV end diastolic
             (LVSD) wall thickness of at least 15 mm on a 2D echocardiogram and

          -  Known to have mutations in genes encoding sarcomeric proteins

        Exclusion Criteria:

          -  Hypersensitivity to NAC

          -  Individuals younger than 18 years old (in the pilot study)

          -  Phenocopy conditions, diagnosed clinically or genetically

          -  Patients who have undergone transcatheter (alcohol) septal ablation within 6 months.

          -  Individuals (typically family members) with causal mutations but an LVSD wall
             thickness of <15 mm

          -  Patients with concomitant diseases such as:

               -  Significant coronary artery disease >70% luminal diameter stenosis in ny of the
                  major coronary arteries (if known);

               -  Valvular heart diseases (more than mild aortic stenosis and mitral regurgitation,
                  the latter judged to be due to primary mitral valve abnormalities);

               -  Uncontrolled hypertension, defined as systolic blood pressure of

                    -  140 mmHg and diastolic blood pressure of ≥90 mmHg on medication, mean of
                       three measurements at rest);

               -  Other significant medical problems, such as moderate to severe chronic renal
                  failure (GFR<45 ml/min/1.73m2), advanced liver disease, cancer, or other
                  disabling conditions

          -  Pregnant women, nursing mothers and those who plan pregnancy during the study period

          -  Those with active asthma (albeit the concern is relevant to nebulizer form but not
             oral formulations)
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.


Eligibility (NLI label): Entailment