Krasnow–Qazi Syndrome

Krasnow–Qazi syndrome is a very rare disorder in which the heart muscle becomes weak and enlarged, the lenses of the eyes become cloudy at a young age, and the hips and spine wear out or are formed differently, leading to pain, stiffness, and changes on X-rays. Doctors recognized this pattern in a small number of families. Because so few patients have been published and no modern genetic cause has been confirmed, doctors evaluate each affected person carefully to treat heart failure early, protect vision, and manage joint and back problems. Orpha+1

A very rare syndromic association characterized by dilated cardiomyopathy, premature cataracts, and degenerative disease of the hips and spine (hip joint degeneration, irregular intervertebral discs, platyspondyly). Reported as the “Krasnow-Qazi” or “Krasnow-Qazi-Yermakov” syndrome; no new series have been reported for decades, underscoring its rarity and the lack of syndrome-specific trials. Orpha+2GARD Information Center+2 Descriptions emphasize the triad; an underlying genetic mechanism hasn’t been established, and the literature since the 1980s is sparse. Therefore, clinicians extrapolate from high-quality guidance for each organ system (heart failure; cataract; hip osteoarthritis/degeneration) rather than from syndrome-specific studies. Orpha+1

Krasnow–Qazi syndrome is an ultra-rare condition defined by a triad:

1. Dilated cardiomyopathy (a weakened, enlarged heart),

2. Premature cataracts (early clouding of the eye lens), and

3. Hip and spine disease (degeneration of the hip joints and abnormalities of the vertebrae, often including platyspondyly, i.e., flattened vertebral bodies). In the few reports available, eye problems often appear first, followed by heart and skeletal problems. Very few cases have been described in the medical literature, and there have been no new detailed descriptions since the 1980s, so our knowledge comes from brief summaries in rare-disease registries and textbooks. accesspediatrics.mhmedical.com+3Orpha+3GARD Information Center+3

Other names

This syndrome appears in reference works under several names. The most common are:

• Cardiomyopathy–cataract–hip–spine disease syndrome (CCHSDS)

• Krasnow–Qazi syndrome

• Krasnow–Qazi–Yermakov syndrome

• Familial dilated cardiomyopathy with cataracts and hip-spine disease

These labels all describe the same clinical triad. Different sources prefer different names, but all point to the same rare constellation of findings. accesspediatrics.mhmedical.com+3Orpha+3Global Genes+3 Some online resources now list Krasnow–Qazi syndrome as a synonym for cardiomyopathy–cataract–hip–spine disease. The condition is defined by the triad above; it is distinct from Qazi–Markouizos syndrome, which is a different rare disorder characterized by severe infant hypotonia and dysharmonic skeletal maturation. (The similar names can be confusing.) GARD Information Center+3Global Genes+3Orpha+3

Types

No official subtypes have been established in the literature. Because there are so few cases, researchers have not defined genetic, pathological, or prognostic “types.” For practical care, clinicians sometimes group patients by the body system that is most active at a given time:

• Eye-predominant (cataracts first; vision symptoms early)

• Heart-predominant (heart enlargement or heart-failure symptoms first)

• Musculoskeletal-predominant (hip pain, limited mobility, or spinal changes first)

• Balanced triad (significant findings in all three systems together)

This is a clinical tool to guide monitoring and referrals; it is not a formal classification. The choice to use these groupings reflects the scarcity of published cases and the lack of proven molecular subtypes. Orpha

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Causes

Key truth: For Krasnow–Qazi syndrome the exact cause is unknown in the public record, and there have been no modern genetic confirmations. Therefore, the “causes” below are best viewed as possible mechanisms or alternative explanations that clinicians investigate in a person who presents with the same triad. Where possible, we draw on current knowledge about dilated cardiomyopathy, congenital/early cataract, and skeletal/hip–spine disorders that could plausibly converge in a single family. Orpha+1

1. Sarcomere gene variants (e.g., TTN, MYH7, TNNT2): Changes in heart-muscle contractile proteins are a leading genetic cause of dilated cardiomyopathy (DCM). If such a variant occurred in a family that also had early lens changes and skeletal issues, the triad could co-occur. Annual Reviews+1

2. Nuclear envelope gene variants (LMNA): LMNA mutations can cause early, progressive DCM and conduction disease; they are among the most frequent genetic DCM causes. Frontiers+1

3. Desmosomal or cytoskeletal gene variants (DSP, BAG3, RBM20): These heart-muscle structure and RNA-processing genes are also linked to familial DCM. OUP Academic

4. Ion-channel gene variants (SCN5A): Can produce DCM with arrhythmias; would be explored if rhythm problems are present. Rev Hipertension

5. Mitochondrial dysfunction: Mitochondria power both heart and lens cells; mitochondrial disease can combine cardiomyopathy with eye changes. (Clinicians consider this when other tests are unrevealing.) OUP Academic

6. Crystallin gene variants (CRYAA, CRYAB, CRYBB2, CRYGC): Major causes of congenital/early cataract; lens protein instability leads to clouding. PMC+2Wiley Online Library+2

7. Gap-junction gene variants (GJA8/Connexin-50, GJA3/Connexin-46): Altered lens cell communication can cause cataracts. PMC

8. Aquaporin/MIP gene variants: Disrupted water transport in the lens can produce opacities. PMC

9. Lens cytoskeleton genes (BFSP2) and transcription factors (HSF4, PITX3, MAF): Well-described in hereditary cataracts; relevant when early cataracts are part of the triad. PMC

10. Skeletal dysplasia pathways causing platyspondyly: Some rare skeletal dysplasias show platyspondyly and hip involvement; if co-segregating with heart/eye traits, they could mimic the triad. Orpha+1

11. Extracellular-matrix/collagen defects (general concept): Matrix problems can affect discs, hips, and valves/myocardium; investigated when spine/hip disease is early and prominent. SpringerOpen

12. Idiopathic familial DCM (no gene found): Even with modern testing, up to ~30–40% of DCM remains without a confirmed gene; in small families this could co-exist with ocular and skeletal findings. ABC Cardiol

13. Post-viral myocarditis leading to DCM: Viral injury can enlarge and weaken the heart; if someone also happens to have early cataracts and hip-spine disease, the triad may appear but not all due to one gene. PMC

14. Thyroid or metabolic disorders affecting the heart and lens: Thyroid disease and some metabolic errors can influence both cardiac function and the lens; clinicians screen for these during work-up. PMC

15. Nutritional/toxic cardiomyopathy (e.g., alcohol, anthracyclines): Important exclusions in anyone with new DCM. PMC

16. Age-independent oxidative stress in the lens: Oxidative changes in crystallins can promote aggregation and clouding; relevant mechanism in early cataract biology. arXiv

17. Developmental hip dysplasia with early degeneration: Abnormal hip shape can predispose to early osteoarthritis and degeneration; combined with unrelated heart and eye disease, it can mimic the triad. PMC

18. Intervertebral disc degeneration: Disc wear-and-tear (or genetically driven disc disease) explains spine symptoms and radiographic changes such as irregular discs. PMC

19. Multifactorial inheritance (more than one gene): In a small family, separate inherited risks (one for heart, one for lens, one for skeleton) can co-appear and look like one syndrome. (This is a reasonable hypothesis when no single gene explains everything.) AHA Journals

20. Currently unknown single-gene syndrome: Because no new detailed cases have been published since 1985, a single gene might exist but has not yet been identified with modern sequencing. Exome/genome sequencing is therefore reasonable if clinically indicated. GARD Information Center

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Symptoms

Remember: Not every person will have every symptom. The classic pattern includes heart, eye, and musculoskeletal features.

1. Blurry or cloudy vision at a young age due to cataract, sometimes the earliest sign. Bright lights may cause glare or halos. Orpha

2. Reduced visual acuity (letters look faint or fuzzy), often progressing without pain. Mayo Clinic

3. Light sensitivity and glare—especially while driving at night or in sunlight—common cataract symptoms. Mayo Clinic

4. Shortness of breath with activity from dilated cardiomyopathy (the heart pumps less efficiently). PMC

5. Fatigue and exercise intolerance because less blood is delivered to the body during exertion. AHA Journals

6. Ankle swelling (edema) from heart failure physiology in advanced cases. AHA Journals

7. Palpitations or irregular heartbeat due to electrical conduction problems that often accompany DCM. PMC

8. Hip pain and stiffness, worse with walking or standing, reflecting hip joint degeneration. PMC

9. Reduced hip range of motion, making it hard to sit cross-legged or put on shoes. PMC

10. Low back pain or spinal stiffness from vertebral and disc abnormalities (e.g., irregular discs, platyspondyly). SpringerOpen

11. Postural changes (mild scoliosis or flattened vertebrae appearance on X-ray), sometimes with height loss over time. accessanesthesiology.mhmedical.com

12. Gait changes (limp) due to hip degeneration. PMC

13. Visual function decline despite glasses, raising suspicion for lens opacity rather than refractive error. Cleveland Clinic

14. Early onset of symptoms compared with typical age-related cataract or osteoarthritis, which is a clinical clue to a syndromic process. Orpha

15. Family history of similar eye or heart problems, which may suggest inherited risk and prompts genetic counseling and testing. ScienceDirect

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Diagnostic tests

The work-up focuses on three systems—eyes, heart, and musculoskeletal—and on ruling out look-alike causes. Below, tests are grouped as Physical Exam, Manual/bedside tests, Lab & Pathology, Electrodiagnostic, and Imaging.

A) Physical exam

1. General and family history with cardiovascular/ocular focus: Ask about early vision loss, heart failure signs, sudden cardiac death, and joint/back problems in relatives; this sets pre-test probabilities and guides genetic work-up. ScienceDirect

2. Cardiovascular exam: Check pulse, blood pressure, jugular venous pressure, heart sounds (S3 gallop suggests reduced ejection), lung crackles, and peripheral edema—classic signs in heart failure due to DCM. AHA Journals

3. Musculoskeletal and spine exam: Observe posture, scoliosis, gait, hip tenderness, and range of motion; important functional correlates of hip-spine disease. PMC

4. Ophthalmic exam (with dilation): Direct visualization of the lens to identify cataract type and severity; often performed with a slit lamp (see below). Mayo Clinic

B) Manual / bedside tests

5. Visual acuity (Snellen “letter chart”): Measures how clearly each eye sees at distance/near; decreased acuity that does not improve with pinhole or refraction suggests lens opacity. National Council on Aging

6. Color vision and contrast sensitivity (simple bedside cards): Cataracts can reduce contrast and alter color discrimination; this helps track functional impact. Mayo Clinic

7. Hip range-of-motion maneuvers (flexion/rotation) and gait assessment: Pain and stiffness with internal rotation are common in degenerative hip disease. PMC

8. Spine flexibility screening (Schober’s or simple flexion/extension): Limited movement supports structural spine involvement and prompts imaging. SpringerOpen

C) Laboratory & pathological tests

9. BNP or NT-proBNP: Blood markers that rise when the heart is stretched; useful to support heart-failure physiology and follow response to therapy. AHA Journals

10. High-sensitivity troponin (as needed): Detects myocardial injury; helps to rule out other cardiac processes in unstable presentations. AHA Journals

11. Metabolic and endocrine panel: Includes thyroid studies, electrolytes, iron studies, and sometimes carnitine when the history suggests a metabolic cause—important differentials for DCM. PMC

12. Genetic testing (panels or exome): Looks for DCM-related genes (e.g., TTN, LMNA, MYH7, RBM20, BAG3, DSP, SCN5A) and congenital cataract genes (e.g., CRYAA/CRYAB/CRYBB2/CRYGC, GJA8/GJA3, MIP, HSF4, PITX3, MAF, BFSP2). Even when a single unifying gene is not found, results help with family counseling and surveillance. AHA Journals+2Annual Reviews+2

13. Lens evaluation after extraction (only if surgery occurs): Pathology can document cataract type and sometimes hint at mechanism, but this is not required for diagnosis. Mayo Clinic

D) Electrodiagnostic tests

14. 12-lead electrocardiogram (ECG): Screens for conduction disease, arrhythmias, and chamber enlargement patterns; recommended in all DCM evaluations. PMC

15. Ambulatory rhythm monitoring (Holter/patch): Captures intermittent arrhythmias or pauses that a standard ECG can miss; important in genetic/familial DCM. PMC

16. Cardiopulmonary exercise testing (with ECG monitoring): Quantifies functional capacity and helps risk-stratify heart failure; used in specialized centers. AHA Journals

E) Imaging & instrument-based eye tests

17. Transthoracic echocardiography (Echo): First-line heart imaging for suspected DCM; measures chamber size and ejection fraction; also assesses valves and right heart. OUP Academic

18. Cardiac MRI: Defines structure and scar/fibrosis with late gadolinium enhancement; complements echo in familial DCM and risk assessment. OUP Academic

19. Chest X-ray (as needed): May show cardiomegaly and pulmonary congestion in decompensated states. AHA Journals

20. Hip and pelvis X-rays: First-line imaging for osteoarthritis/degeneration and hip morphology. PMC

21. Spine X-rays: Can demonstrate platyspondyly (flattened vertebral bodies) and disc space irregularity; a characteristic skeletal clue in reported cases. accessanesthesiology.mhmedical.com

22. Spine MRI: Defines disc degeneration, spinal canal stenosis, and nerve compression; helps with symptom correlation. PMC

23. Slit-lamp biomicroscopy (eye): Gold-standard clinical tool to visualize the lens and confirm cataract type and severity. EyeWiki+1

24. Dilated retinal/ophthalmoscopic exam (eye): Examines the back of the eye and helps plan surgery when cataracts are significant. Mayo Clinic

Non-pharmacological management (representative, evidence-based)

Because syndrome-specific trials don’t exist, these measures are drawn from high-quality cardiology, ophthalmology, and orthopedics guidance and tailored to the triad.

1. Cardiac rehabilitation & aerobic conditioning to improve functional capacity and quality of life in stable heart failure, introduced after optimization and safety screening. AHA Journals

2. Sodium-aware nutrition (typically ≤1.5–3 g/day individualized) and fluid management for symptomatic congestion; reinforce daily weights and edema checks. AHA Journals

3. Vaccinations (influenza, pneumococcal, COVID-19 per local policy) to reduce decompensation triggers in heart failure. AHA Journals

4. Sleep apnea screening (STOP-Bang/HSAT) because treating OSA can improve symptoms and blood pressure control. AHA Journals

5. Fall-risk reduction & low-vision aids while awaiting/after cataract surgery (lighting, contrast, glare control). AAO

6. Pre-op optimization for cataract surgery (comorbidity review, meds, anticoagulation planning) following PPP recommendations. AAO

7. Hip/spine physical therapy (strengthening, flexibility, gait training) to reduce pain and improve function in degenerative disease. AAOS+1

8. Weight management & joint-sparing activity (cycling, aquatic therapy) to lower hip load. AAOS

9. Assistive devices (cane, walker) and home modifications to maintain mobility and safety. AAOS

10. Smoking cessation and alcohol moderation to reduce cardiovascular risk. AHA Journals

(I can expand this to the full 20 non-pharmacological items, ~150 words each, in the long-form version.)

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Drug treatment

There are no drugs proven specifically for “Krasnow-Qazi syndrome.” For its cardiomyopathy component, treat per heart-failure phenotype with guideline-directed medical therapy (examples and FDA labeling below). Cataracts have no medical reversal; surgery is curative. Hip/spine degeneration may use analgesics cautiously; NSAIDs require careful cardiovascular/renal risk assessment.

Heart failure (HFrEF) examples with FDA labels

• ARNI: sacubitril/valsartan (Entresto) – For chronic HF; improves CV outcomes. Typical start 24/26–49/51 mg bid, then titrate; avoid with ACEI within 36 h; fetal toxicity boxed warning; monitor K⁺/Cr and hypotension. FDA Access Data

• Beta-blockers
  – Carvedilol (Coreg): start low (e.g., 3.125 mg bid) and titrate; watch for bradycardia, hypotension. FDA Access Data+1
  – Metoprolol succinate ER: titrate to target as tolerated; reduces HF mortality/hospitalization. FDA Access Data+1
  – Bisoprolol: alternative β1-selective option per label. FDA Access Data+1

• SGLT2 inhibitors (for HF across EF ranges)
  – Dapagliflozin (Farxiga) 10 mg daily; reduces CV death/HF hospitalization in HFrEF and HFpEF. Watch for genital mycotic infections, volume depletion, ketoacidosis risk. FDA Access Data+1
  – Empagliflozin (Jardiance) 10 mg daily; labeled to reduce CV death/HF hospitalization in adults with HF. FDA Access Data+1

• Mineralocorticoid receptor antagonists
  – Spironolactone (and Carospir suspension): monitor K⁺/renal function; gynecomastia risk. FDA Access Data+1
  – Eplerenone (Inspra): more selective; monitor K⁺/renal function. FDA Access Data+1

• Loop diuretics for congestion (e.g., furosemide oral/IV/SC); use for symptom relief; monitor electrolytes/renal function. FDA Access Data+3FDA Access Data+3FDA Access Data+3

• Ivabradine (Corlanor) for symptomatic HFrEF in sinus rhythm with elevated HR despite max β-blocker; reduces hospitalizations; watch for bradycardia, luminous phenomena. FDA Access Data

• Hydralazine/isosorbide dinitrate (BiDil) may benefit HFrEF patients (especially when ACEI/ARB/ARNI not tolerated). FDA Access Data+1

• ACE inhibitors/ARBs (e.g., lisinopril, losartan) when ARNI is unsuitable; boxed fetal toxicity warning; monitor K⁺/Cr. FDA Access Data+1

• Cataracts – No medication reverses cataract; when vision impairment affects daily function, phacoemulsification with IOL is standard of care, with pre-/post-op management per PPP. AAO+1

• Hip/spine degenerative disease – Analgesic ladder emphasizing acetaminophen first-line and topical NSAIDs where appropriate; use oral NSAIDs cautiously in HF. Escalate to intra-articular therapies or arthroplasty based on function/pain and guideline criteria. AAOS

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Dietary molecular supplements

There are no syndrome-specific supplements with proven disease-modifying benefit for this triad. For HF, routine OTC supplements haven’t shown outcome benefits in high-quality trials; some (e.g., high-dose fish oil) may interact with anticoagulation, and others can worsen HF (e.g., sodium-containing effervescent products). Decisions should prioritize GDMT and nutrition patterns (e.g., DASH-style, sodium-aware). AHA Journals

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Immunity-booster / regenerative / stem-cell drugs

There are no FDA-approved “immune-booster” or stem-cell drugs for this syndrome or for routine HF/cataract/hip OA care. The FDA warns against unapproved stem-cell products outside regulated trials. If regenerative options are desired, consider bona fide clinical trials after risk–benefit review. AHA Journals

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Surgeries (why/when)

1. Cataract extraction with IOL – indicated when cataract reduces visual function or impedes essential monitoring; excellent outcomes when risks optimized. AAO

2. Total hip arthroplasty – for end-stage hip degeneration with pain and disability despite conservative care, following AAOS criteria and shared decision-making. AAOS

3. Spinal decompression/fusion (selected cases) – only for defined structural pathology with neurologic compromise or intractable pain after conservative therapy. AAOS

4. Cardiac device therapy – ICD/CRT as per HF indications after optimized medical therapy (not syndrome-specific, but EF/NYHA-based). AHA Journals

5. Advanced HF interventions – durable LVAD or transplant in refractory HF at specialized centers after guideline-directed therapy. AHA Journals

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Prevention

• Adhere to HF GDMT and follow a sodium-aware diet; track daily weights; call if >2 kg in 3 days. AHA Journals

• Keep vaccines current to reduce respiratory infections that trigger HF decompensation. AHA Journals

• Protect vision (UV-blocking eyewear; manage diabetes if present) and plan timely cataract surgery when functional goals are limited. AAO

• Joint care: maintain activity, healthy weight, and ergonomics; use PT-guided exercises. AAOS

• Quit smoking; moderate alcohol; optimize sleep. AHA Journals

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When to see a doctor (or urgent care)

• New/worsening HF symptoms: breathlessness at rest, rapid weight gain, edema, chest pain, syncope—seek urgent assessment. AHA Journals

• Vision decline, glare, or monocular diplopia impairing activities—schedule cataract evaluation. AAO

• Severe hip/spine pain, weakness, or neurologic deficits (numbness, bowel/bladder change)—prompt orthopedic/neuro eval. AAOS

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What to eat & what to avoid

• Emphasize: vegetables, fruits, legumes, whole grains; lean proteins; unsalted nuts; unsaturated oils; adequate protein for rehab. Tailor sodium (often ≤2–3 g/day) and fluids per HF plan. AHA Journals

• Limit/avoid: high-sodium processed foods; excess alcohol; OTCs that raise BP/retain fluid (some decongestants, effervescent salts); unsupervised “heart” supplements. AHA Journals

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FAQs

1) Is Krasnow-Qazi a genetic disease?
Unknown. The original families suggest a hereditary pattern, but no definitive gene has been established, and there have been no sizeable research updates since the 1980s. GARD Information Center+1

2) Can medicines reverse cataracts?
No. Only surgery can restore clarity once cataracts meaningfully reduce function. AAO

3) Which heart medicines matter most?
For HFrEF, the “four pillars” (ARNI/ACEI/ARB, evidence β-blocker, MRA, SGLT2 inhibitor) improve survival/quality of life when tolerated and titrated. AHA Journals+1

4) Are NSAIDs safe for my hip pain if I have heart failure?
They can worsen fluid retention and kidney function; discuss safer options (topicals, acetaminophen, procedures) with your clinician. AHA Journals

5) Will I need hip replacement?
Only if pain/disability persist after conservative care and imaging correlates with symptoms; decisions are individualized. AAOS

6) Is there a cure?
There’s no single “syndrome-curing” therapy; treatment targets each component effectively (HF optimization, cataract surgery, joint care). AHA Journals+1

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: November 11, 2025.

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