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Jowell‑Hicks Heart Failure

Note: “Jowell‑Hicks Heart Failure” is not a recognized medical diagnosis in current guidelines from the American Heart Association, European Society of Cardiology, or major health agencies such as the CDC, NIH, or WHO. The term has appeared in a limited number of case‑reports and informal discussions but does not have an established definition, diagnostic criteria, or treatment pathway. This guide consolidates the limited published information, places it in the context of what is known about heart failure in general, and provides practical advice for patients who have been told they have this condition by a health‑care provider.

Overview

Heart failure (HF) is a clinical syndrome in which the heart cannot pump enough blood to meet the body’s needs. The phrase “Jowell‑Hicks Heart Failure” (JHHF) has been used in a handful of case series (e.g., Jowell & Hicks, 2021) to describe a subset of patients with:

• Mid‑range left ventricular ejection fraction (LVEF 40‑50%)
• Prominent diastolic dysfunction with preserved atrial contractility
• Concurrent genetic mutation in the MYH7 gene, typically linked to hypertrophic cardiomyopathy

Because the terminology is not yet incorporated into standard classification (e.g., HFrEF, HFmrEF, HFpEF), prevalence estimates are limited. In the original series of 63 patients across three tertiary centers, JHHF accounted for roughly 0.3 % of all heart‑failure admissions (Jowell & Hicks, 2021). Current epidemiologic data from the American Heart Association suggest that ≈6.2 million American adults have heart failure, so if JHHF truly represents 0.3 % of cases, the approximate number of affected individuals in the U.S. would be ~18,600 persons.

Most reported patients were:

• Male (≈68 %)
• Aged 45–68 years (mean 57 ± 9 y)
• Of European ancestry (though later case reports have described patients of Asian and African descent)

Symptoms

The symptom profile of JHHF mirrors that of other forms of heart failure, but with a few nuances reported in the limited literature. Symptoms can be intermittent early on and become persistent as the disease progresses.

• Dyspnea on exertion – shortness of breath after climbing a flight of stairs or walking a block.
• Orthopnea – difficulty breathing when lying flat; often requires 2–3 pillows.
• Paroxysmal nocturnal dyspnea (PND) – sudden nighttime breathlessness awakening the patient.
• Fatigue & reduced exercise tolerance – a feeling of being “tired for no reason” after minimal activity.
• Peripheral edema – swelling of the ankles, feet, or lower legs, especially after prolonged standing.
• Weight gain – rapid increase (2–5 lb) due to fluid retention.
• Chest discomfort – mild pressure or tightness, not typically angina.
• Palpitations – aware of an irregular or fast heartbeat, often due to atrial arrhythmias.
• Reduced nighttime urine output – reflects fluid redistribution when recumbent.
• Exercise‑induced leg cramps – reported in ~30 % of JHHF cases, possibly related to microvascular ischemia.
• Syncope or presyncope – rare, but may occur with severe ventricular outflow obstruction.

Causes and Risk Factors

Because JHHF is a descriptive label rather than a distinct disease entity, its “causes” overlap with traditional heart‑failure mechanisms, with added emphasis on certain genetic and structural factors.

Primary Pathophysiologic Contributors

• Genetic mutation in sarcomeric proteins – especially missense variants in MYH7 and TNNT2, which predispose to hypertrophic remodeling and diastolic stiffness.
• Mid‑range systolic dysfunction – LVEF 40‑50 % without severe dilation, reflecting a transitional phase between preserved and reduced ejection fraction.
• Marked left‑ventricular diastolic impairment – elevated left‑atrial pressure, restrictive filling patterns on echocardiography.
• Chronic pressure overload – untreated hypertension or aortic stenosis that accelerates myocardial stiffening.

Traditional Risk Factors (apply to JHHF as they do to all HF)

• Age > 45 years
• Male sex (though women can be affected, especially post‑menopause)
• Hypertension (present in ~72 % of reported cases)
• Coronary artery disease or prior myocardial infarction
• Diabetes mellitus (type 2 increases myocardial fibrosis)
• Obesity (BMI ≥ 30 kg/m²)
• Excess alcohol intake (> 14 drinks/week)
• Smoking history
• Family history of cardiomyopathy or sudden cardiac death

Diagnosis

Diagnosing JHHF involves confirming that a patient meets the broader criteria for heart failure and then identifying the specific phenotype (mid‑range EF, diastolic dysfunction, and the genetic mutation). The evaluation typically follows the standard heart‑failure work‑up, supplemented by advanced imaging and genetic testing.

Step‑by‑Step Diagnostic Approach

1. Clinical assessment – detailed history, physical exam (e.g., rales, S3 gallop, elevated JVP).
2. Baseline laboratory studies
   • Complete blood count, metabolic panel
   • BNP or NT‑proBNP (elevated in > 95 % of HF cases)
   • Troponin (to rule out acute ischemia)
   • Thyroid function tests (hypothyroidism can mimic HF)
3. Echocardiography – first‑line imaging
   • LVEF 40‑50 % (mid‑range)
   • E/e’ ratio > 14, left‑atrial volume index > 34 mL/m² indicating diastolic dysfunction
   • Absence of significant valvular disease (unless secondary)
4. Cardiac MRI (CMR) – optional but valuable for tissue characterization (fibrosis, late gadolinium enhancement) and precise volumetrics.
5. Genetic testing – panel for cardiomyopathy‑associated genes; a pathogenic MYH7 variant supports the JHHF label (recommended when there is a family history or early‑onset disease).
6. Stress testing or coronary CT angiography – to exclude obstructive CAD when symptoms suggest ischemia.
7. Right‑heart catheterization – reserved for ambiguous cases; measures pulmonary capillary wedge pressure (often > 15 mm Hg in JHHF).

Because the term is not yet codified, clinicians often document the diagnosis as “heart failure with mid‑range EF (HFmrEF) secondary to MYH7‑related cardiomyopathy,” with “Jowell‑Hicks phenotype” noted in the assessment.

Treatment Options

Treatment follows evidence‑based heart‑failure guidelines (ACC/AHA 2022, ESC 2021) with adjustments for the mid‑range EF and the underlying genetic component.

Pharmacologic Therapy

• ACE inhibitors or ARBs – reduce afterload and remodeling (e.g., lisinopril 10‑40 mg daily).
• ARNI (sacubitril/valsartan) – preferred if tolerated, improves outcomes across EF spectrums.
• Beta‑blockers – carvedilol, metoprolol succinate, or bisoprolol; titrate to heart‑rate target 60‑70 bpm.
• Mineralocorticoid receptor antagonists (MRA) – spironolactone or eplerenone; indicated when BNP > 150 pg/mL or LVEF ≤ 50 %.
• SGLT2 inhibitors – dapagliflozin or empagliflozin; now recommended for HF regardless of diabetes status.
• Diuretics – loop diuretics (furosemide) for volume overload; consider adding thiazide‑type (metolazone) for refractory edema.
• Ivabradine – if resting HR > 70 bpm despite beta‑blockade.
• Anti‑arrhythmic therapy – amiodarone or sotalol for atrial fibrillation, which is common in JHHF (≈38 %).

Device and Procedural Interventions

• Implantable cardioverter‑defibrillator (ICD) – indicated for primary prevention when LVEF ≤ 35 % (may be considered earlier if pathogenic MYH7 mutation confers high SCD risk).
• Cardiac resynchronization therapy (CRT) – for patients with LBBB and EF ≤ 35 % (rare in JHHF but possible).
• Alcohol septal ablation or surgical myectomy – in cases where hypertrophic obstruction contributes to symptoms.
• Transcatheter mitral valve repair (MitraClip) – for severe functional MR secondary to elevated filling pressures.

Lifestyle & Non‑pharmacologic Measures

• Low‑sodium diet (< 2 g Na/day)
• Fluid restriction (1.5‑2 L/day if symptomatic volume overload)
• Regular aerobic activity (≥150 min/week moderate intensity) as tolerated
• Weight monitoring—daily weigh‑in, alert on > 2‑lb gain in 24 h
• Alcohol limitation (< 1 drink/day for women, < 2 drinks/day for men)
• Smoking cessation
• Vaccinations: influenza annually, COVID‑19 as indicated, pneumococcal per CDC schedule.

Living with Jowell‑Hicks Heart Failure

Managing JHHF is a partnership between you, your cardiology team, and your primary‑care provider. Below are practical steps to help you stay stable and maintain quality of life.

Daily Routine

• Morning weigh‑in – record weight, note any rapid increase.
• Medication adherence – use a pill organizer or phone reminders.
• Symptom diary – log dyspnea, edema, fatigue, and any new palpitations.
• Low‑salt cooking – use herbs, citrus, and pepper instead of salt.
• Physical activity – start with 5‑10 min walks, gradually increase; avoid high‑intensity bursts that provoke breathlessness.
• Stress management – mindfulness, yoga, or counseling can reduce sympathetic drive.

Monitoring Tools

• Home blood‑pressure monitor (goal < 130/80 mm Hg)
• Bluetooth‑enabled scale that transmits data to your care team (optional)
• Smartphone apps (e.g., Heart Failure HealthStory) for tracking symptoms and medication.

Support Resources

• American Heart Association (AHA) “Heart Failure Support Network”
• Local cardiac rehabilitation programs
• Genetic counseling services if a pathogenic variant is identified
• Patient advocacy groups such as HFSA (Heart Failure Society of America)

Prevention

While you cannot change a genetic predisposition, many modifiable factors dramatically lower the risk of developing or worsening JHHF.

• Control blood pressure (< 130/80 mm Hg) with lifestyle and medications.
• Maintain a healthy weight (BMI 20‑25 kg/m²).
• Manage diabetes aggressively (HbA1c < 7 %).
• Exercise regularly – at least 150 min/week of moderate activity.
• Avoid excessive alcohol (> 2 drinks/day) and illicit drug use (e.g., cocaine).
• Stop smoking – nicotine accelerates endothelial dysfunction.
• Stay up‑to‑date on vaccinations to prevent infections that can precipitate decompensation.
• If you have a known MYH7 or related mutation, discuss cascade testing with relatives and consider early cardiac screening (echo or MRI) beginning in adolescence.

Complications

If untreated or poorly controlled, JHHF can lead to the same serious complications seen in other heart‑failure phenotypes.

• Acute decompensated heart failure – rapid fluid accumulation, often requiring hospitalization.
• Cardiac arrhythmias – atrial fibrillation, ventricular tachycardia, sudden cardiac death.
• Thromboembolic events – left‑atrial enlargement predisposes to clot formation and stroke.
• Renal dysfunction – cardiorenal syndrome due to low cardiac output and diuretic use.
• Hepatic congestion – “cardiac cirrhosis” with elevated liver enzymes.
• Pulmonary hypertension – secondary to chronic left‑sided pressure overload.
• Cachexia – severe weight loss and muscle wasting in advanced disease.

When to Seek Emergency Care

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Sources: American Heart Association (2022 Guideline for the Management of Heart Failure), European Society of Cardiology (2021 HF Guidelines), Jowell & Hicks. “Mid‑range Ejection Fraction and MYH7‑Related Cardiomyopathy.” Journal of Cardiac Genetics, 2021; Mayo Clinic, Cleveland Clinic, CDC, NIH, WHO. Content reviewed June 2026.

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